Variant report

Variant	esv1823273
Chromosome Location	chr22:23155111-23277495
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2860)
CpG islands
(count:122)
Chromatin interactive
region (count:241)
LncRNA
region (count:24)
Mature miRNA
region (count: 3)
miRNA target
sites (count:0)

(count:2860 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:23226039-23226556	K562	blood:	n/a	n/a
2	ARID3A	chr22:23258750-23259076	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:23232773-23233217	K562	blood:	n/a	n/a
4	ARID3A	chr22:23185588-23185620	K562	blood:	n/a	n/a
5	ATF1	chr22:23266964-23266992	K562	blood:	n/a	n/a
6	ATF1	chr22:23169293-23169433	K562	blood:	n/a	n/a
7	ATF1	chr22:23166948-23167148	K562	blood:	n/a	n/a
8	ATF1	chr22:23239585-23239595	K562	blood:	n/a	n/a
9	ATF1	chr22:23203811-23204540	K562	blood:	n/a	n/a
10	ATF1	chr22:23203233-23203487	K562	blood:	n/a	n/a
11	ATF1	chr22:23206769-23207349	K562	blood:	n/a	n/a
12	ATF1	chr22:23180385-23181176	K562	blood:	n/a	n/a
13	ATF1	chr22:23202075-23202247	K562	blood:	n/a	n/a
14	ATF1	chr22:23194742-23194752	K562	blood:	n/a	n/a
15	ATF1	chr22:23253446-23253456	K562	blood:	n/a	n/a
16	ATF1	chr22:23270547-23272244	K562	blood:	n/a	n/a
17	ATF1	chr22:23167850-23168098	K562	blood:	n/a	n/a
18	ATF1	chr22:23234038-23234184	K562	blood:	n/a	n/a
19	ATF1	chr22:23262737-23263489	K562	blood:	n/a	n/a
20	ATF1	chr22:23182682-23182828	K562	blood:	n/a	n/a
21	ATF1	chr22:23162146-23162529	K562	blood:	n/a	n/a
22	ATF1	chr22:23233172-23233190	K562	blood:	n/a	n/a
23	ATF1	chr22:23186155-23186439	K562	blood:	n/a	n/a
24	ATF1	chr22:23208195-23208865	K562	blood:	n/a	n/a
25	ATF1	chr22:23158393-23159026	K562	blood:	n/a	n/a
26	ATF1	chr22:23252055-23252437	K562	blood:	n/a	n/a
27	ATF1	chr22:23251232-23251667	K562	blood:	n/a	n/a
28	ATF1	chr22:23210661-23211009	K562	blood:	n/a	n/a
29	ATF1	chr22:23205123-23205389	K562	blood:	n/a	n/a
30	ATF1	chr22:23223851-23224186	K562	blood:	n/a	n/a
31	ATF1	chr22:23254917-23254918	K562	blood:	n/a	n/a
32	ATF1	chr22:23189882-23189945	K562	blood:	n/a	n/a
33	ATF1	chr22:23195676-23195779	K562	blood:	n/a	n/a
34	ATF1	chr22:23249632-23250275	K562	blood:	n/a	n/a
35	ATF1	chr22:23213112-23213543	K562	blood:	n/a	n/a
36	ATF1	chr22:23232791-23232914	K562	blood:	n/a	n/a
37	ATF1	chr22:23209457-23209711	K562	blood:	n/a	n/a
38	ATF1	chr22:23246000-23246189	K562	blood:	n/a	n/a
39	ATF1	chr22:23172635-23172845	K562	blood:	n/a	n/a
40	ATF1	chr22:23205769-23206087	K562	blood:	n/a	n/a
41	ATF1	chr22:23178289-23179177	K562	blood:	n/a	n/a
42	ATF1	chr22:23155091-23155700	K562	blood:	n/a	n/a
43	ATF2	chr22:23248892-23250514	GM12878	blood:	n/a	n/a
44	ATF2	chr22:23277487-23278267	GM12878	blood:	n/a	n/a
45	ATF2	chr22:23273903-23274587	GM12878	blood:	n/a	n/a
46	ATF2	chr22:23243556-23245167	GM12878	blood:	n/a	n/a
47	ATF2	chr22:23270597-23271768	GM12878	blood:	n/a	n/a
48	ATF2	chr22:23277251-23278348	GM12878	blood:	n/a	n/a
49	ATF2	chr22:23241920-23242220	GM12878	blood:	n/a	n/a
50	ATF2	chr22:23243571-23245290	GM12878	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	PrEC	prostate:	n/a
2	chr22:23196971-23197021	HRCEpiC	kidney:	n/a
3	chr22:23196971-23197021	K562	blood:	n/a
4	chr22:23196971-23197021	NHBE	bronchial:	n/a
5	chr22:23196971-23197021	GM12891	blood:	n/a
6	chr22:23196862-23196912	HL-60	blood:	n/a
7	chr22:23196971-23197021	AoSMC	blood vessel:	n/a
8	chr22:23196862-23196912	GM12878	blood:	n/a
9	chr22:23196862-23196912	GM06990	blood:	n/a
10	chr22:23196971-23197021	AG09319	gingival:	n/a
11	chr22:23196862-23196912	H1-hESC	embryonic stem cell:	embryo
12	chr22:23196971-23197021	T-47D	breast:	n/a
13	chr22:23196862-23196912	AG04450	lung:	fetal
14	chr22:23196971-23197021	GM12892	blood:	n/a
15	chr22:23196971-23197021	HCPEpiC	choroid plexus:	n/a
16	chr22:23196971-23197021	AG04449	skin:	fetal
17	chr22:23196862-23196912	HCF	heart:	n/a
18	chr22:23196971-23197021	SK-N-MC	brain:	n/a
19	chr22:23196862-23196912	GM12892	blood:	n/a
20	chr22:23196971-23197021	ProgFib	skin:	n/a
21	chr22:23196862-23196912	HCPEpiC	choroid plexus:	n/a
22	chr22:23196862-23196912	HCM	heart:	n/a
23	chr22:23196971-23197021	IMR90	lung:	fetal
24	chr22:23196971-23197021	Caco-2	colon:	n/a
25	chr22:23196971-23197021	NB4	blood:	n/a
26	chr22:23196971-23197021	GM19239	blood:	n/a
27	chr22:23196971-23197021	LNCaP	prostate:	n/a
28	chr22:23196862-23196912	NHDF-neo	bronchial:	n/a
29	chr22:23196971-23197021	HEK293	kidney:	embryo
30	chr22:23196862-23196912	T-47D	breast:	n/a
31	chr22:23196971-23197021	SKMC	muscle:	n/a
32	chr22:23196862-23196912	CMK	blood:	n/a
33	chr22:23196862-23196912	NB4	blood:	n/a
34	chr22:23196862-23196912	SAEC	small airway:	n/a
35	chr22:23196862-23196912	U87	brain:	n/a
36	chr22:23196971-23197021	NT2-D1	testis:	n/a
37	chr22:23196862-23196912	PrEC	prostate:	n/a
38	chr22:23196862-23196912	NH-A	brain:	n/a
39	chr22:23196862-23196912	MCF-7	breast:	n/a
40	chr22:23196862-23196912	HRCEpiC	kidney:	n/a
41	chr22:23196971-23197021	SAEC	small airway:	n/a
42	chr22:23196862-23196912	Hela-S3	cervix:	n/a
43	chr22:23196862-23196912	HUVEC	blood vessel:	n/a
44	chr22:23196971-23197021	HPAEpiC	pulmonary alveolar:	n/a
45	chr22:23196971-23197021	ovcar-3	ovarian:	n/a
46	chr22:23196862-23196912	AoSMC	blood vessel:	n/a
47	chr22:23196971-23197021	HRPEpiC	eye:	n/a
48	chr22:23196862-23196912	SKMC	muscle:	n/a
49	chr22:23196971-23197021	HRE	kidney:	n/a
50	chr22:23196971-23197021	HepG2	liver:	n/a

(count:241 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr22:23164487..23167017-chr22:23176059..23177602,2	K562	blood:
2	chr22:23029760..23030722-chr22:23225908..23226768,3	K562	blood:
3	chr22:23158068..23161031-chr22:23161901..23164849,3	K562	blood:
4	chr22:23270409..23272197-chr22:23283086..23285103,2	K562	blood:
5	chr22:23221725..23222375-chr22:23284654..23285494,2	K562	blood:
6	chr22:23153953..23157348-chr22:23159325..23163829,7	K562	blood:
7	chr22:23245468..23247565-chr22:23249258..23251335,3	K562	blood:
8	chr22:23130817..23133388-chr22:23167138..23169692,2	K562	blood:
9	chr22:23237456..23241868-chr22:23242613..23249057,9	K562	blood:
10	chr22:23204517..23207085-chr22:23207637..23209482,2	K562	blood:
11	chr22:23219377..23220300-chr22:23285004..23285686,2	MCF-7	breast:
12	chr22:23190687..23191337-chr22:23223552..23224057,2	K562	blood:
13	chr22:23261117..23263641-chr22:23264707..23267231,3	K562	blood:
14	chr22:23159718..23160596-chr22:23297843..23298719,2	K562	blood:
15	chr22:23144093..23145546-chr22:23219335..23220248,5	K562	blood:
16	chr22:23191756..23192453-chr9:133873463..133874284,2	K562	blood:
17	chr22:23197571..23198566-chr22:23219290..23220277,6	K562	blood:
18	chr22:23262831..23264788-chr22:23270674..23273625,2	K562	blood:
19	chr22:23234328..23239223-chr22:23249114..23253993,6	K562	blood:
20	chr22:23095720..23096793-chr22:23225681..23226777,7	K562	blood:
21	chr22:23190687..23191337-chr22:23223552..23224057,2	K562	blood:
22	chr22:23165215..23167481-chr22:23176988..23179274,2	K562	blood:
23	chr22:22776723..22777608-chr22:23219224..23219850,2	K562	blood:
24	chr22:23145087..23146964-chr22:23157198..23158794,2	K562	blood:
25	chr22:23189493..23191074-chr22:23219299..23220302,6	K562	blood:
26	chr22:23221177..23222015-chr22:23285000..23285592,2	MCF-7	breast:
27	chr22:23184287..23186851-chr22:23189473..23192216,2	MCF-7	breast:
28	chr22:23197941..23198519-chr22:23296672..23297562,5	MCF-7	breast:
29	chr22:23035302..23036023-chr22:23237968..23238493,2	K562	blood:
30	chr22:23248970..23251030-chr22:23266059..23268328,2	K562	blood:
31	chr22:23197136..23198035-chr22:23213028..23213809,2	K562	blood:
32	chr22:23175812..23179209-chr22:23186134..23188076,3	K562	blood:
33	chr22:23190657..23191158-chr22:23221234..23221856,2	MCF-7	breast:
34	chr22:23197196..23198079-chr22:23219738..23220255,2	MCF-7	breast:
35	chr22:22785736..22786496-chr22:23219303..23220252,2	K562	blood:
36	chr22:23195204..23197105-chr22:23594404..23596670,2	K562	blood:
37	chr22:23221668..23222214-chr22:23295526..23296047,2	MCF-7	breast:
38	chr22:23130552..23131359-chr22:23219351..23220305,4	MCF-7	breast:
39	chr22:23175286..23177452-chr22:23191943..23195481,3	K562	blood:
40	chr22:23249460..23256264-chr22:23263399..23267410,8	K562	blood:
41	chr22:23269159..23271034-chr22:23285763..23287373,2	K562	blood:
42	chr22:23157854..23159575-chr22:23265576..23269716,3	K562	blood:
43	chr22:23052932..23053844-chr22:23225037..23226369,5	K562	blood:
44	chr22:23152218..23152785-chr22:23197596..23198419,2	K562	blood:
45	chr22:23168657..23170784-chr22:23171805..23174406,4	K562	blood:
46	chr22:23203006..23203931-chr22:23230116..23230981,2	K562	blood:
47	chr22:23211841..23214589-chr22:23214813..23217953,3	K562	blood:
48	chr22:23221440..23222221-chr22:23297786..23298354,2	MCF-7	breast:
49	chr22:22818275..22818824-chr22:23226158..23226792,2	MCF-7	breast:
50	chr22:23181478..23184287-chr22:23201719..23203304,2	K562	blood:

(count:24 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RTDR1-4	chr22:23243305-23243327	NONHSAT083834
2	lnc-RTDR1-4	chr22:23243491-23243570	NONHSAT083834
3	lnc-RTDR1-4	chr22:23262147-23262154	NONHSAT083834
4	lnc-RTDR1-4	chr22:23261700-23261973	NONHSAT083834
5	lnc-POM121L1P-5	chr22:23200951-23201121	refGeneNc_260_NR_028483
6	lnc-RTDR1-4	chr22:23242926-23243073	NONHSAT083834
7	lnc-POM121L1P-5	chr22:23178179-23178296	refGeneNc_260_NR_028483
8	lnc-POM121L1P-5	chr22:23165262-23165535	refGeneNc_260_NR_028483
9	lnc-IGLL5-7	chr22:23157168-23157423	NONHSAT083824
10	lnc-RTDR1-6	chr22:23220011-23220059	NONHSAT083832
11	lnc-POM121L1P-5	chr22:23220658-23220783	refGeneNc_260_NR_028483
12	lnc-RTDR1-4	chr22:23264861-23264965	NONHSAT083834
13	lnc-D87017.1-3	chr22:23252998-23253245	NONHSAT083835
14	lnc-RTDR1-6	chr22:23221233-23221684	NONHSAT083832
15	lnc-POM121L1P-5	chr22:23164245-23164726	refGeneNc_260_NR_028483
16	lnc-IGLL5-4	chr22:23192550-23192799	NONHSAT083828
17	lnc-POM121L1P-4	chr22:23155178-23156344	ucscGeneNc_uc002zzz_1
18	lnc-POM121L1P-5	chr22:23186421-23186739	refGeneNc_260_NR_028483
19	lnc-IGLL5-5	chr22:23180779-23181049	NONHSAT083827
20	lnc-D87017.1-2	chr22:23257805-23258097	NONHSAT083836
21	lnc-POM121L1P-5	chr22:23197736-23197863	refGeneNc_260_NR_028483
22	lnc-RTDR1-1	chr22:23248506-23248831	NONHSAT083775
23	lnc-RTDR1-4	chr22:23264978-23265153	NONHSAT083834
24	lnc-POM121L1P-5	chr22:23167960-23168108	refGeneNc_260_NR_028483

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

No data

Variant related genes	Relation type
ENSG00000264824	TF binding region
IGLV3-7	TF binding region
MIR650	TF binding region
ENSG00000226477	TF binding region
ENSG00000207832	TF binding region
IGLV4-3	TF binding region
IGLJ5	TF binding region
IGLV3-2	TF binding region
IGLC7	TF binding region
IGLV3-4	TF binding region
ENSG00000237127	TF binding region
IGLJ7	TF binding region
IGLC1	TF binding region
IGLV3-6	TF binding region
IGLV2-5	TF binding region
IGLJ6	TF binding region
IGLJ4	TF binding region
IGLC4	TF binding region
IGLJ2	TF binding region
IGLV2-8	TF binding region
IGLC5	TF binding region
IGLL5	TF binding region
IGLJ3	TF binding region
IGLC3	TF binding region
IGLC6	TF binding region
IGLV3-9	TF binding region
IGLV3-1	TF binding region
IGLJ1	TF binding region
IGLC2	TF binding region
ENSG00000264824	CpG island
IGLV3-7	CpG island
MIR650	CpG island
ENSG00000226477	CpG island
ENSG00000207832	CpG island
IGLV4-3	CpG island
IGLJ5	CpG island
IGLV3-2	CpG island
IGLC7	CpG island
IGLV3-4	CpG island
ENSG00000237127	CpG island
IGLJ7	CpG island
IGLC1	CpG island
IGLV3-6	CpG island
IGLV2-5	CpG island
IGLJ6	CpG island
IGLJ4	CpG island
IGLC4	CpG island
IGLJ2	CpG island
IGLV2-8	CpG island
IGLC5	CpG island
IGLL5	CpG island
IGLJ3	CpG island
IGLC3	CpG island
IGLC6	CpG island
IGLV3-9	CpG island
IGLV3-1	CpG island
IGLJ1	CpG island
IGLC2	CpG island
ENSG00000226477	chromatin interactions
ENSG00000211674	chromatin interactions
ENSG00000211671	chromatin interactions
ENSG00000211675	chromatin interactions
ENSG00000211669	chromatin interactions
ENSG00000222037	chromatin interactions
ENSG00000226420	chromatin interactions
ENSG00000211684	chromatin interactions
ENSG00000211678	chromatin interactions
ENSG00000264824	chromatin interactions
ENSG00000211676	chromatin interactions
ENSG00000254030	chromatin interactions
ENSG00000186716	chromatin interactions
ENSG00000211680	chromatin interactions
ENSG00000211677	chromatin interactions
ENSG00000211679	chromatin interactions
ENSG00000207836	chromatin interactions
ENSG00000211657	chromatin interactions
ENSG00000254077	chromatin interactions
ENSG00000211685	chromatin interactions
ENSG00000254029	chromatin interactions
ENSG00000207832	chromatin interactions
ENSG00000223999	chromatin interactions
ENSG00000211673	chromatin interactions
ENSG00000236794	chromatin interactions
ENSG00000253234	chromatin interactions
ENSG00000237127	chromatin interactions
ENSG00000211655	chromatin interactions
ENSG00000253963	chromatin interactions
ENSG00000253448	chromatin interactions
ENSG00000211670	chromatin interactions
ENSG00000211681	chromatin interactions
ENSG00000211663	chromatin interactions
ENSG00000211672	chromatin interactions
ENSG00000211682	chromatin interactions
ING4	Mature miRNA region

Extended variants
information (count: 8083 )
Associated
traits (count: 218 )

Variant overlapped rSNPs/rCNVs (count:8083 , 50 per page) page: 1 2 3 4 5 6 7 ... 162

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545370784	chr22:23155143-23155144	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs565620529	chr22:23155178-23155179	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
3	rs147957683	chr22:23155190-23155191	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
4	rs139839495	chr22:23155198-23155199	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
5	rs527952735	chr22:23155204-23155205	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
6	rs113004752	chr22:23155205-23155206	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
7	rs187234857	chr22:23155245-23155246	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
8	rs190112683	chr22:23155246-23155247	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
9	rs566539939	chr22:23155285-23155286	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
10	rs532381797	chr22:23155288-23155289	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
11	rs552140343	chr22:23155355-23155356	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
12	rs62218782	chr22:23155382-23155383	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs181715534	chr22:23155431-23155432	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
14	rs530754764	chr22:23155488-23155489	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
15	rs185879185	chr22:23155548-23155549	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
16	rs9623928	chr22:23155687-23155688	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
17	rs145360226	chr22:23155737-23155738	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs553876288	chr22:23155769-23155770	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	rs550274935	chr22:23155816-23155817	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
20	rs5996391	chr22:23155833-23155834	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs376313901	chr22:23155864-23155865	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
22	rs147688854	chr22:23155865-23155866	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
23	rs149171927	chr22:23155904-23155905	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs4822324	chr22:23155988-23155989	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs77444582	chr22:23156032-23156033	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
26	rs560929234	chr22:23156043-23156044	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
27	rs530075268	chr22:23156054-23156055	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
28	rs540368410	chr22:23156063-23156064	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
29	rs142613592	chr22:23156068-23156069	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
30	rs532166163	chr22:23156108-23156109	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
31	rs5996393	chr22:23156144-23156145	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs569145843	chr22:23156145-23156146	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
33	rs190203191	chr22:23156159-23156160	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
34	rs74764912	chr22:23156160-23156161	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
35	rs62218783	chr22:23156181-23156182	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
36	rs553771322	chr22:23156193-23156194	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
37	rs568056162	chr22:23156217-23156218	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs533834032	chr22:23156232-23156233	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs150993801	chr22:23156233-23156234	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs370215768	chr22:23156265-23156266	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs556791952	chr22:23156291-23156292	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs116066725	chr22:23156305-23156306	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs2330253	chr22:23156398-23156399	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs575464286	chr22:23156408-23156409	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs538137983	chr22:23156412-23156413	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs115304741	chr22:23156421-23156422	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs574694293	chr22:23156437-23156438	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs78098444	chr22:23156440-23156441	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs2330254	chr22:23156516-23156517	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs576968638	chr22:23156564-23156565	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:218)

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
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:936 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23144400-23157800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr22:23152200-23161200	Enhancers	Primary T cells fromperipheralblood	blood
3	chr22:23152400-23155200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr22:23152400-23155400	Enhancers	Primary B cells from peripheral blood	blood
5	chr22:23152400-23156800	Strong transcription	Right Atrium	heart
6	chr22:23152800-23156400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr22:23153200-23157400	Weak transcription	Thymus	Thymus
8	chr22:23153200-23157600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr22:23153400-23163000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr22:23153600-23155200	Enhancers	Primary B cells from cord blood	blood
11	chr22:23153600-23155200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr22:23153600-23155800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr22:23153600-23156000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr22:23153600-23156800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr22:23153800-23156800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr22:23153800-23157800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr22:23154000-23158000	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr22:23154200-23155600	Weak transcription	Primary T cells from cord blood	blood
19	chr22:23154600-23155200	Enhancers	Fetal Thymus	thymus
20	chr22:23154600-23155800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr22:23154600-23157600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr22:23154800-23155800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr22:23154800-23155800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr22:23154800-23156400	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr22:23155000-23155600	Enhancers	Brain Hippocampus Middle	brain
26	chr22:23155000-23157000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr22:23155000-23158200	Weak transcription	GM12878-XiMat	blood
28	chr22:23155200-23156200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr22:23155200-23157200	Weak transcription	Fetal Thymus	thymus
30	chr22:23155200-23157600	Weak transcription	Primary B cells from cord blood	blood
31	chr22:23155200-23160800	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr22:23155600-23156000	Enhancers	Primary T cells from cord blood	blood
33	chr22:23155800-23157200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr22:23155800-23161400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr22:23156000-23156600	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr22:23156000-23157400	Weak transcription	Primary T cells from cord blood	blood
37	chr22:23156200-23161400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr22:23156400-23157200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr22:23156400-23157400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr22:23156600-23157000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr22:23156800-23158600	Weak transcription	Right Atrium	heart
42	chr22:23156800-23161200	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr22:23156800-23161600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr22:23157000-23157800	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr22:23157000-23158000	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr22:23157200-23159000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr22:23157200-23160400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr22:23157200-23161200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr22:23157200-23169000	Enhancers	Fetal Thymus	thymus
50	chr22:23157400-23157600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links