Variant report

Variant	nsv1060228
Chromosome Location	chr22:23053532-23255556
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5173)
CpG islands
(count:122)
Chromatin interactive
region (count:443)
LncRNA
region (count:23)
Mature miRNA
region (count: 3)
miRNA target
sites (count:0)

(count:5173 , 50 per page) page: 1 2 3 4 5 6 7 ... 104

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:23096142-23096349	HepG2	liver:	n/a	n/a
2	ARID3A	chr22:23062560-23063183	K562	blood:	n/a	n/a
3	ARID3A	chr22:23226039-23226556	K562	blood:	n/a	n/a
4	ARID3A	chr22:23123576-23123779	K562	blood:	n/a	n/a
5	ARID3A	chr22:23112680-23113069	K562	blood:	n/a	n/a
6	ARID3A	chr22:23088195-23088474	K562	blood:	n/a	n/a
7	ARID3A	chr22:23122421-23122441	K562	blood:	n/a	n/a
8	ARID3A	chr22:23232773-23233217	K562	blood:	n/a	n/a
9	ARID3A	chr22:23062845-23063144	HepG2	liver:	n/a	n/a
10	ARID3A	chr22:23119431-23119566	K562	blood:	n/a	n/a
11	ARID3A	chr22:23095901-23096393	K562	blood:	n/a	n/a
12	ARID3A	chr22:23071123-23071265	K562	blood:	n/a	n/a
13	ARID3A	chr22:23185588-23185620	K562	blood:	n/a	n/a
14	ATF1	chr22:23223851-23224186	K562	blood:	n/a	n/a
15	ATF1	chr22:23094264-23095307	K562	blood:	n/a	n/a
16	ATF1	chr22:23055701-23055768	K562	blood:	n/a	n/a
17	ATF1	chr22:23105060-23105238	K562	blood:	n/a	n/a
18	ATF1	chr22:23143924-23144313	K562	blood:	n/a	n/a
19	ATF1	chr22:23092911-23093602	K562	blood:	n/a	n/a
20	ATF1	chr22:23104460-23104637	K562	blood:	n/a	n/a
21	ATF1	chr22:23147092-23147291	K562	blood:	n/a	n/a
22	ATF1	chr22:23076119-23076216	K562	blood:	n/a	n/a
23	ATF1	chr22:23138336-23138394	K562	blood:	n/a	n/a
24	ATF1	chr22:23084998-23085399	K562	blood:	n/a	n/a
25	ATF1	chr22:23112583-23113133	K562	blood:	n/a	n/a
26	ATF1	chr22:23088109-23088530	K562	blood:	n/a	n/a
27	ATF1	chr22:23090785-23091442	K562	blood:	n/a	n/a
28	ATF1	chr22:23249632-23250275	K562	blood:	n/a	n/a
29	ATF1	chr22:23155091-23155700	K562	blood:	n/a	n/a
30	ATF1	chr22:23208195-23208865	K562	blood:	n/a	n/a
31	ATF1	chr22:23254917-23254918	K562	blood:	n/a	n/a
32	ATF1	chr22:23166948-23167148	K562	blood:	n/a	n/a
33	ATF1	chr22:23172635-23172845	K562	blood:	n/a	n/a
34	ATF1	chr22:23065741-23065840	K562	blood:	n/a	n/a
35	ATF1	chr22:23096027-23096489	K562	blood:	n/a	n/a
36	ATF1	chr22:23069790-23071225	K562	blood:	n/a	n/a
37	ATF1	chr22:23189882-23189945	K562	blood:	n/a	n/a
38	ATF1	chr22:23078516-23079011	K562	blood:	n/a	n/a
39	ATF1	chr22:23151564-23151800	K562	blood:	n/a	n/a
40	ATF1	chr22:23180385-23181176	K562	blood:	n/a	n/a
41	ATF1	chr22:23203233-23203487	K562	blood:	n/a	n/a
42	ATF1	chr22:23125944-23126543	K562	blood:	n/a	n/a
43	ATF1	chr22:23111363-23111688	K562	blood:	n/a	n/a
44	ATF1	chr22:23110486-23110686	K562	blood:	n/a	n/a
45	ATF1	chr22:23086152-23086162	K562	blood:	n/a	n/a
46	ATF1	chr22:23158393-23159026	K562	blood:	n/a	n/a
47	ATF1	chr22:23203811-23204540	K562	blood:	n/a	n/a
48	ATF1	chr22:23066966-23067564	K562	blood:	n/a	n/a
49	ATF1	chr22:23205123-23205389	K562	blood:	n/a	n/a
50	ATF1	chr22:23072639-23072759	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:23196971-23197021	SAEC	small airway:	n/a
2	chr22:23196862-23196912	BE2_C	brain:	n/a
3	chr22:23196862-23196912	BJ	skin:	n/a
4	chr22:23196862-23196912	HCM	heart:	n/a
5	chr22:23196862-23196912	HCPEpiC	choroid plexus:	n/a
6	chr22:23196971-23197021	HIPEpiC	eye:	n/a
7	chr22:23196862-23196912	HNPCEpiC	eye:	n/a
8	chr22:23196862-23196912	SK-N-SH_RA	brain:	n/a
9	chr22:23196862-23196912	Jurkat	blood:	n/a
10	chr22:23196971-23197021	PrEC	prostate:	n/a
11	chr22:23196971-23197021	H1-hESC	embryonic stem cell:	embryo
12	chr22:23196971-23197021	ProgFib	skin:	n/a
13	chr22:23196971-23197021	SK-N-SH_RA	brain:	n/a
14	chr22:23196862-23196912	ECC-1	luminal epithelium:	n/a
15	chr22:23196862-23196912	LNCaP	prostate:	n/a
16	chr22:23196862-23196912	HAEpiC	amniotic membrane:	n/a
17	chr22:23196862-23196912	ovcar-3	ovarian:	n/a
18	chr22:23196862-23196912	NT2-D1	testis:	n/a
19	chr22:23196971-23197021	AG09309	skin:	n/a
20	chr22:23196971-23197021	AG04449	skin:	fetal
21	chr22:23196862-23196912	AG09309	skin:	n/a
22	chr22:23196862-23196912	NHDF-neo	bronchial:	n/a
23	chr22:23196971-23197021	HepG2	liver:	n/a
24	chr22:23196862-23196912	NH-A	brain:	n/a
25	chr22:23196971-23197021	PFSK-1	brain:	n/a
26	chr22:23196971-23197021	A549	lung:	n/a
27	chr22:23196862-23196912	GM12878	blood:	n/a
28	chr22:23196971-23197021	NB4	blood:	n/a
29	chr22:23196862-23196912	GM19239	blood:	n/a
30	chr22:23196971-23197021	AG04450	lung:	fetal
31	chr22:23196971-23197021	NHBE	bronchial:	n/a
32	chr22:23196971-23197021	SK-N-SH	brain:	n/a
33	chr22:23196862-23196912	GM12892	blood:	n/a
34	chr22:23196862-23196912	CMK	blood:	n/a
35	chr22:23196971-23197021	LNCaP	prostate:	n/a
36	chr22:23196971-23197021	Caco-2	colon:	n/a
37	chr22:23196862-23196912	HL-60	blood:	n/a
38	chr22:23196862-23196912	AG10803	skin:	n/a
39	chr22:23196862-23196912	HPAEpiC	pulmonary alveolar:	n/a
40	chr22:23196862-23196912	SK-N-MC	brain:	n/a
41	chr22:23196971-23197021	U87	brain:	n/a
42	chr22:23196971-23197021	RPTEC	kidney:	n/a
43	chr22:23196971-23197021	ECC-1	luminal epithelium:	n/a
44	chr22:23196862-23196912	Caco-2	colon:	n/a
45	chr22:23196971-23197021	NH-A	brain:	n/a
46	chr22:23196971-23197021	T-47D	breast:	n/a
47	chr22:23196862-23196912	PANC-1	pancreas:	n/a
48	chr22:23196971-23197021	AoSMC	blood vessel:	n/a
49	chr22:23196971-23197021	ovcar-3	ovarian:	n/a
50	chr22:23196971-23197021	AG10803	skin:	n/a

(count:443 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Distal block	Cell Line	Cell type
1	chr22:23224116..23226301-chr22:23252932..23255620,2	K562	blood:
2	chr22:23190306..23191721-chr22:23225246..23226597,7	MCF-7	breast:
3	chr22:23044807..23045428-chr22:23062295..23063052,3	MCF-7	breast:
4	chr22:23130059..23131366-chr22:23152103..23153385,6	K562	blood:
5	chr22:23044550..23045444-chr22:23053127..23053727,2	K562	blood:
6	chr22:22818275..22818824-chr22:23226158..23226792,2	MCF-7	breast:
7	chr22:23034942..23035446-chr22:23090868..23091472,2	K562	blood:
8	chr22:23152221..23152901-chr22:23190288..23191157,3	K562	blood:
9	chr22:23095736..23096392-chr22:23219351..23220241,3	MCF-7	breast:
10	chr22:23112331..23113021-chr22:23223423..23224541,3	K562	blood:
11	chr22:23151728..23153719-chr22:23225682..23227093,23	K562	blood:
12	chr22:23071304..23074253-chr22:23078346..23081293,2	K562	blood:
13	chr22:23211841..23214589-chr22:23214813..23217953,3	K562	blood:
14	chr22:22818098..22818959-chr22:23130713..23131308,3	K562	blood:
15	chr22:22899832..22902524-chr22:23054881..23057157,2	K562	blood:
16	chr22:23237287..23240210-chr22:23254703..23257164,2	K562	blood:
17	chr22:23198020..23198527-chr22:23209390..23209956,2	K562	blood:
18	chr22:23082377..23083071-chr22:23239318..23240169,2	K562	blood:
19	chr22:23131123..23132637-chr22:23301462..23303842,2	K562	blood:
20	chr22:23049724..23050322-chr22:23112347..23112891,3	K562	blood:
21	chr22:23111937..23114253-chr22:23218482..23221359,2	K562	blood:
22	chr22:23143333..23145097-chr22:23222921..23225680,2	K562	blood:
23	chr22:23198000..23198685-chr22:23284805..23285520,2	MCF-7	breast:
24	chr22:23143333..23145097-chr22:23222921..23225680,2	K562	blood:
25	chr22:22815066..22815979-chr22:23225208..23226122,2	K562	blood:
26	chr22:23221725..23222375-chr22:23284654..23285494,2	K562	blood:
27	chr22:23168657..23170784-chr22:23171805..23174406,4	K562	blood:
28	chr22:23249849..23250456-chr22:23284637..23285518,2	K562	blood:
29	chr22:23112086..23113814-chr22:23188708..23190847,2	K562	blood:
30	chr22:23125660..23127842-chr22:23129980..23132039,4	K562	blood:
31	chr22:22929292..22930184-chr22:23219224..23220044,2	K562	blood:
32	chr22:23149559..23151668-chr22:23154879..23157298,2	MCF-7	breast:
33	chr22:23034964..23035875-chr22:23226239..23227006,2	K562	blood:
34	chr22:23095720..23096793-chr22:23225681..23226777,7	K562	blood:
35	chr22:23197941..23198519-chr22:23296672..23297562,5	MCF-7	breast:
36	chr22:23144565..23145628-chr22:23297770..23298814,8	K562	blood:
37	chr22:23082377..23083071-chr22:23239318..23240169,2	K562	blood:
38	chr22:23204517..23207085-chr22:23207637..23209482,2	K562	blood:
39	chr22:23185728..23186473-chr22:23296561..23297083,2	K562	blood:
40	chr22:23049285..23050242-chr22:23107821..23108351,2	K562	blood:
41	chr22:23061644..23064154-chr22:23089157..23090984,2	K562	blood:
42	chr22:23237287..23240210-chr22:23254703..23257164,2	K562	blood:
43	chr22:23062316..23063283-chr22:23225816..23226768,5	K562	blood:
44	chr22:23152545..23153119-chr22:23292977..23293913,2	K562	blood:
45	chr22:23125400..23127839-chr22:23232318..23234700,2	K562	blood:
46	chr22:23034627..23035920-chr22:23062552..23063228,3	K562	blood:
47	chr22:23145087..23146964-chr22:23157198..23158794,2	K562	blood:
48	chr22:23142654..23146460-chr22:23147411..23151043,4	K562	blood:
49	chr22:23195204..23197105-chr22:23594404..23596670,2	K562	blood:
50	chr22:23219790..23220746-chr22:23282871..23283800,2	K562	blood:

(count:23 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RTDR1-6	chr22:23221233-23221684	NONHSAT083832
2	lnc-IGLL5-4	chr22:23192550-23192799	NONHSAT083828
3	lnc-POM121L1P-5	chr22:23220658-23220783	refGeneNc_260_NR_028483
4	lnc-RTDR1-6	chr22:23220011-23220059	NONHSAT083832
5	lnc-GGTLC2-9	chr22:23098043-23098286	NONHSAT083817
6	lnc-RTDR1-4	chr22:23243491-23243570	NONHSAT083834
7	lnc-D87017.1-3	chr22:23252998-23253245	NONHSAT083835
8	lnc-POM121L1P-5	chr22:23178179-23178296	refGeneNc_260_NR_028483
9	lnc-RTDR1-1	chr22:23248506-23248831	NONHSAT083775
10	lnc-POM121L1P-5	chr22:23167960-23168108	refGeneNc_260_NR_028483
11	lnc-RTDR1-4	chr22:23242926-23243073	NONHSAT083834
12	lnc-POM121L1P-5	chr22:23197736-23197863	refGeneNc_260_NR_028483
13	lnc-POM121L1P-5	chr22:23186421-23186739	refGeneNc_260_NR_028483
14	lnc-POM121L1P-4	chr22:23155178-23156344	ucscGeneNc_uc002zzz_1
15	lnc-IGLL5-5	chr22:23180779-23181049	NONHSAT083827
16	lnc-IGLL5-7	chr22:23157168-23157423	NONHSAT083824
17	lnc-GGTLC2-10	chr22:23104787-23105009	NONHSAT083819
18	lnc-GGTLC2-8	chr22:23081432-23081675	NONHSAT083816
19	lnc-POM121L1P-3	chr22:23053951-23054068	NONHSAT083813
20	lnc-POM121L1P-5	chr22:23200951-23201121	refGeneNc_260_NR_028483
21	lnc-POM121L1P-5	chr22:23164245-23164726	refGeneNc_260_NR_028483
22	lnc-RTDR1-4	chr22:23243305-23243327	NONHSAT083834
23	lnc-POM121L1P-5	chr22:23165262-23165535	refGeneNc_260_NR_028483

miRNA name	Chromosome Location	mirBase accession
hsa-miR-5571-5p	chr22:23228471-23228491	MIMAT0022257
hsa-miR-5571-3p	chr22:23228511-23228529	MIMAT0022258
hsa-miR-650	chr22:23165285-23165305	MIMAT0003320

No data

Variant related genes	Relation type
ENSG00000264824	TF binding region
IGLV3-7	TF binding region
ENSG00000207832	TF binding region
IGLV4-3	TF binding region
IGLJ5	TF binding region
IGLV3-13	TF binding region
IGLC1	TF binding region
IGLV2-5	TF binding region
IGLV2-18	TF binding region
IGLV3-17	TF binding region
IGLJ6	TF binding region
IGLV3-12	TF binding region
ENSG00000207835	TF binding region
IGLJ2	TF binding region
IGLV3-15	TF binding region
IGLV3-19	TF binding region
IGLV2-14	TF binding region
IGLVI-20	TF binding region
IGLJ1	TF binding region
ENSG00000207833	TF binding region
MIR650	TF binding region
ENSG00000226477	TF binding region
IGLV3-2	TF binding region
IGLV3-4	TF binding region
ENSG00000237127	TF binding region
IGLV3-6	TF binding region
IGLV3-16	TF binding region
ENSG00000264629	TF binding region
IGLJ4	TF binding region
IGLC4	TF binding region
ENSG00000231392	TF binding region
IGLV2-8	TF binding region
IGLC5	TF binding region
IGLV3-10	TF binding region
IGLV2-11	TF binding region
IGLL5	TF binding region
IGLJ3	TF binding region
IGLC3	TF binding region
IGLV3-9	TF binding region
IGLV3-1	TF binding region
IGLV3-21	TF binding region
IGLC2	TF binding region
ENSG00000264824	CpG island
IGLV3-7	CpG island
ENSG00000207832	CpG island
IGLV4-3	CpG island
IGLJ5	CpG island
IGLV3-13	CpG island
IGLC1	CpG island
IGLV2-5	CpG island
IGLV2-18	CpG island
IGLV3-17	CpG island
IGLJ6	CpG island
IGLV3-12	CpG island
ENSG00000207835	CpG island
IGLJ2	CpG island
IGLV3-15	CpG island
IGLV3-19	CpG island
IGLV2-14	CpG island
IGLVI-20	CpG island
IGLJ1	CpG island
ENSG00000207833	CpG island
MIR650	CpG island
ENSG00000226477	CpG island
IGLV3-2	CpG island
IGLV3-4	CpG island
ENSG00000237127	CpG island
IGLV3-6	CpG island
IGLV3-16	CpG island
ENSG00000264629	CpG island
IGLJ4	CpG island
IGLC4	CpG island
ENSG00000231392	CpG island
IGLV2-8	CpG island
IGLC5	CpG island
IGLV3-10	CpG island
IGLV2-11	CpG island
IGLL5	CpG island
IGLJ3	CpG island
IGLC3	CpG island
IGLV3-9	CpG island
IGLV3-1	CpG island
IGLV3-21	CpG island
IGLC2	CpG island
ENSG00000211672	chromatin interactions
ENSG00000264824	chromatin interactions
ENSG00000211669	chromatin interactions
ENSG00000187556	chromatin interactions
ENSG00000211674	chromatin interactions
ENSG00000211673	chromatin interactions
ENSG00000254030	chromatin interactions
ENSG00000211678	chromatin interactions
ENSG00000253786	chromatin interactions
ENSG00000186716	chromatin interactions
ENSG00000226420	chromatin interactions
ENSG00000253822	chromatin interactions
ENSG00000207832	chromatin interactions
ENSG00000253963	chromatin interactions
ENSG00000211679	chromatin interactions
ENSG00000226477	chromatin interactions
ENSG00000211657	chromatin interactions
ENSG00000211666	chromatin interactions
ENSG00000253234	chromatin interactions
ENSG00000185686	chromatin interactions
ENSG00000254240	chromatin interactions
ENSG00000211682	chromatin interactions
ENSG00000264629	chromatin interactions
ENSG00000254709	chromatin interactions
ENSG00000211681	chromatin interactions
ENSG00000231392	chromatin interactions
ENSG00000211662	chromatin interactions
ENSG00000254077	chromatin interactions
ENSG00000237127	chromatin interactions
ENSG00000211675	chromatin interactions
ENSG00000236794	chromatin interactions
ENSG00000211680	chromatin interactions
ENSG00000211676	chromatin interactions
ENSG00000211665	chromatin interactions
ENSG00000220891	chromatin interactions
ENSG00000222037	chromatin interactions
ENSG00000207835	chromatin interactions
ENSG00000207836	chromatin interactions
ENSG00000211667	chromatin interactions
ENSG00000211663	chromatin interactions
ENSG00000254029	chromatin interactions
ENSG00000211685	chromatin interactions
ENSG00000211684	chromatin interactions
ENSG00000211670	chromatin interactions
ENSG00000253152	chromatin interactions
ENSG00000253448	chromatin interactions
ENSG00000253590	chromatin interactions
ENSG00000211671	chromatin interactions
ENSG00000211664	chromatin interactions
ENSG00000211655	chromatin interactions
ENSG00000211677	chromatin interactions
ENSG00000223999	chromatin interactions
ING4	Mature miRNA region

Extended variants
information (count: 12462 )
Associated
traits (count: 219 )

Variant overlapped rSNPs/rCNVs (count:12462 , 50 per page) page: 1 2 3 4 5 6 7 ... 250

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190467739	chr22:23053562-23053563	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs192981864	chr22:23053623-23053624	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs576264286	chr22:23053708-23053709	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs78417449	chr22:23053711-23053712	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs540459839	chr22:23053726-23053727	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs150017497	chr22:23053747-23053748	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs116796430	chr22:23053779-23053780	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs75494762	chr22:23053789-23053790	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs564560383	chr22:23053790-23053791	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs144547775	chr22:23053803-23053804	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs543926928	chr22:23053807-23053808	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs184318953	chr22:23053826-23053827	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs77613054	chr22:23053827-23053828	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs549262725	chr22:23053877-23053878	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs148466822	chr22:23053902-23053903	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs116117878	chr22:23053920-23053921	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs114836025	chr22:23053924-23053925	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs571260869	chr22:23053940-23053941	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs536732342	chr22:23054042-23054043	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
20	rs550290510	chr22:23054058-23054059	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
21	rs145246136	chr22:23054070-23054071	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs16991444	chr22:23054081-23054082	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs188656683	chr22:23054089-23054090	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs555602410	chr22:23054114-23054115	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs16991445	chr22:23054127-23054128	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs142297030	chr22:23054159-23054160	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs75964429	chr22:23054181-23054182	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs181143105	chr22:23054185-23054186	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs75797398	chr22:23054197-23054198	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs149400230	chr22:23054207-23054208	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs368629955	chr22:23054208-23054209	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs115752598	chr22:23054227-23054228	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs144167946	chr22:23054250-23054251	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs6003234	chr22:23054251-23054252	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs140171573	chr22:23054252-23054253	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs80230004	chr22:23054273-23054274	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs111761358	chr22:23054276-23054277	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs118059459	chr22:23054277-23054278	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs530550748	chr22:23054278-23054279	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs74765210	chr22:23054324-23054325	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs150335839	chr22:23054336-23054337	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs138266521	chr22:23054344-23054345	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs549165023	chr22:23054367-23054368	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6003235	chr22:23054375-23054376	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs553717139	chr22:23054395-23054396	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6003236	chr22:23054411-23054412	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs558444846	chr22:23054432-23054433	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34972066	chr22:23054436-23054437	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571515479	chr22:23054440-23054441	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs5996353	chr22:23054454-23054455	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:219)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Emanuel syndrome	21549014	CNVD
Digeorge syndrome	22283845	CNVD
Schizophrenia	17504246	CNVD
Digeorge syndrome	18033723	CNVD
22q11 deletion syndrome	17034021	CNVD
22q11 deletion syndrome	22511897	CNVD
22q11 deletion syndrome	16829213	CNVD
Autism	22067053	CNVD
Autism	19218893	CNVD
Biliary cancer	22067053	CNVD
Congenital heart defect	21390462	CNVD
Digeorge syndrome	16617304	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Obsessive-compulsive disorder	22067053	CNVD
Psychosis	22067053	CNVD
Schizophrenia	19415332	CNVD
Schizophrenia	20587603	CNVD
Shprintzen syndrome	19443537	CNVD
absent pulmonary valve syndrome	16795129	CNVD
language delay	22067053	CNVD
periventricular nodular heterotopia	20648244	CNVD
renal disease	17924346	CNVD
Schizophrenia	20433910	CNVD
22q11 deletion syndrome	17028864	CNVD
Schizophrenia	16969581	CNVD
Non-syndromic sensorineural hearing loss	17135275	CNVD
velo-cardio-facial syndrome	17135275	CNVD
Digeorge syndrome	18787571	CNVD
Autism	18925931	CNVD
Non-small cell lung cancer	21829676	CNVD
22q11.2 microdeletion syndrome	21547621	CNVD
Congenital heart defect	21308838	CNVD
Digeorge syndrome	16512914	CNVD
Digeorge syndrome	20954168	CNVD
Nuchal translucency	21837766	CNVD
Right aortic arch in the fetus	17066500	CNVD
Shprintzen syndrome	17117043	CNVD
Tetralogy of fallot	17405110	CNVD
Velocardiofacial syndrome	20140301	CNVD
Velocardiofacial syndrome	16512914	CNVD
bone mass and metabolism	20516202	CNVD
choanal atresia	18209138	CNVD
extracardiac malformations	17086578	CNVD
fetal heart defects	21308838	CNVD
parathyroid gland dysfunction	16793949	CNVD
prenatal diagnosis	20453657	CNVD
velopharyngeal insufficiency	19620585	CNVD
Prader-willi syndrome	20942916	CNVD
22q11 deletion syndrome	17653112	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Cat eye syndrome	21549014	CNVD
Digeorge syndrome	21549014	CNVD
22q11.2 microdeletion syndrome	22051516	CNVD
22q11.2 microdeletion syndrome	18483005	CNVD
22q11.2 microdeletion syndrome	19565140	CNVD
22q11.2 microdeletion syndrome	20396437	CNVD
22q11.2 microdeletion syndrome	21390462	CNVD
22q11.2 microdeletion syndrome	21573985	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Congenital heart defect	21257016	CNVD
Developmental delay	18414209	CNVD
DiGeorge-Velo cardiofacial	19284877	CNVD
Epilepsy	20970697	CNVD
Heart disease	20551144	CNVD
Hughes'' syndrome	16595601	CNVD
Mental retardation	18414209	CNVD
Okamoto syndrome	19046188	CNVD
Primary immunodeficiency	22566803	CNVD
Schizophrenia	20877625	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Tetralogy of Fallot	22912587	CNVD
Velocardiofacial syndrome	17556857	CNVD
Velocardiofacial syndrome	20206275	CNVD
Velocardiofacial syndrome	20970697	CNVD
delayed speech development	21274400	CNVD
velo-cardio-facial syndrome	16511839	CNVD
velo-cardio-facial syndrome	21763005	CNVD
22q11.2 microdeletion syndrome	18799940	CNVD
Digeorge syndrome	20877625	CNVD
22q11.2 microdeletion syndrome	18923514	CNVD
Congenital heart defect	22185286	CNVD
DiGeorge-Velo cardiofacial	16773131	CNVD
Digeorge syndrome	20186050	CNVD
velo-cardio-facial conotruncal-face syndrome	20186050	CNVD
22q11.2 microdeletion syndrome	22116936	CNVD
Disorders of sex development	22290220	CNVD
22q11.2 duplication syndrome	18923514	CNVD
Autism	22095694	CNVD
Mental retardation	19951919	CNVD
Honadal dysgenesis	21048976	CNVD
Mental retardation	16773131	CNVD
22q11.2 microdeletion syndrome	22395003	CNVD
22q11.2 microdeletion syndrome	18691436	CNVD
22q11.2 microdeletion syndrome	18053182	CNVD
22q11.2 microdeletion syndrome	18324686	CNVD
22q11.2 microdeletion syndrome	20074913	CNVD
Congenital heart defect	20802965	CNVD
Congenital heart defect	21134246	CNVD
DiGeorge syndrome	19040613	CNVD
DiGeorge-Velo cardiofacial	18179902	CNVD
Digeorge syndrome	18172682	CNVD
Digeorge syndrome	22470819	CNVD
Digeorge syndrome	21364285	CNVD
Neuroendocrine carcinoma	22470819	CNVD
Non-syndromic sensorineural hearing loss	20069674	CNVD
Smith-Magenis syndrome	18301319	CNVD
Tetralogy of fallot	19144126	CNVD
Velo-cardio-facial syndrome	21364285	CNVD
Velocardiofacial syndrome	18788013	CNVD
cardiac malformation	20573211	CNVD
cardiac malformation	18172682	CNVD
velo-cardio-facial syndrome	18636631	CNVD
Schizophrenia	21822266	CNVD
synaptic plasticity	21368174	CNVD
Schizophrenia	18043741	CNVD
sporadic birth defects	19047251	CNVD
Autism	19046189	CNVD
DiGeorge-Velo cardiofacial	19047251	CNVD
Hypernasal speech	21968682	CNVD
Mental retardation	17339581	CNVD
diverse phenotype	16760730	CNVD
Mental retardation	20152051	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
DiGeorge-Velo cardiofacial	17597781	CNVD
Digeorge syndrome	17576883	CNVD
Schizophrenia	18806272	CNVD
Schizophrenia	18990708	CNVD
Velocardiofacial syndrome	17576883	CNVD
Schizophrenia	20075378	CNVD
Neurodevelopmental disorder	17015230	CNVD
Neuropsychiatric disorder	20069037	CNVD
Williams-beuren syndrome	18553513	CNVD
Emphysema	19352772	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Disease	21346257	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Asthma	21956041	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	21128281	CNVD
Systemic lupus erythematosus	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
22q11.23 microdeletion syndrome	19193630	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Chronic myeloid leukemia	21384125	CNVD
Autism	20841430	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	17989066	CNVD

Chromatin state (count:1363 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23050800-23054800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr22:23051600-23056800	Strong transcription	Right Atrium	heart
3	chr22:23052400-23054600	Enhancers	Stomach Mucosa	stomach
4	chr22:23052600-23053800	Enhancers	Duodenum Mucosa	Duodenum
5	chr22:23052600-23059600	Enhancers	Primary B cells from cord blood	blood
6	chr22:23053000-23053600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr22:23053000-23053600	Weak transcription	Spleen	Spleen
8	chr22:23053000-23053800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr22:23053000-23058800	Enhancers	Primary B cells from peripheral blood	blood
10	chr22:23053200-23054800	Enhancers	Ovary	ovary
11	chr22:23053400-23053800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr22:23053400-23054200	Enhancers	Pancreas	Pancrea
13	chr22:23053400-23054600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr22:23053600-23053800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr22:23053600-23053800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
16	chr22:23053600-23053800	Enhancers	Spleen	Spleen
17	chr22:23053600-23054200	Enhancers	Adipose Nuclei	Adipose
18	chr22:23053600-23055400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr22:23053800-23054000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr22:23053800-23054600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr22:23053800-23055000	Weak transcription	Spleen	Spleen
22	chr22:23053800-23055400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr22:23053800-23062600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr22:23054000-23054200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr22:23054200-23054600	Enhancers	Primary hematopoietic stem cells	blood
26	chr22:23054200-23054600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr22:23054200-23058400	Enhancers	GM12878-XiMat	blood
28	chr22:23054600-23054800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr22:23054600-23055000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr22:23054600-23055200	Enhancers	Colonic Mucosa	Colon
31	chr22:23054600-23056600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr22:23054800-23055000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr22:23054800-23055200	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr22:23054800-23056800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr22:23055000-23055200	Enhancers	Primary hematopoietic stem cells	blood
36	chr22:23055000-23056200	Enhancers	Spleen	Spleen
37	chr22:23055200-23059800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr22:23055200-23060000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr22:23055400-23055800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr22:23055400-23057800	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr22:23055400-23059000	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr22:23055400-23059600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr22:23055800-23056000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr22:23056000-23059800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr22:23056200-23063200	Weak transcription	Spleen	Spleen
46	chr22:23056600-23057600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr22:23056800-23070000	Weak transcription	Right Atrium	heart
48	chr22:23057600-23058600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr22:23057800-23058000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr22:23058000-23058200	Enhancers	Monocytes-CD14+_RO01746	blood

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