Variant report

Variant	nsv1055698
Chromosome Location	chr22:23101771-23258603
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3597)
CpG islands
(count:122)
Chromatin interactive
region (count:338)
LncRNA
region (count:21)
Mature miRNA
region (count: 3)
miRNA target
sites (count:0)

(count:3597 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

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	chr22:23232773-23233217	K562	blood:	n/a	n/a
3	ARID3A	chr22:23112680-23113069	K562	blood:	n/a	n/a
4	ARID3A	chr22:23122421-23122441	K562	blood:	n/a	n/a
5	ARID3A	chr22:23119431-23119566	K562	blood:	n/a	n/a
6	ARID3A	chr22:23185588-23185620	K562	blood:	n/a	n/a
7	ARID3A	chr22:23123576-23123779	K562	blood:	n/a	n/a
8	ATF1	chr22:23143924-23144313	K562	blood:	n/a	n/a
9	ATF1	chr22:23210661-23211009	K562	blood:	n/a	n/a
10	ATF1	chr22:23102745-23102967	K562	blood:	n/a	n/a
11	ATF1	chr22:23194742-23194752	K562	blood:	n/a	n/a
12	ATF1	chr22:23110486-23110686	K562	blood:	n/a	n/a
13	ATF1	chr22:23239585-23239595	K562	blood:	n/a	n/a
14	ATF1	chr22:23105060-23105238	K562	blood:	n/a	n/a
15	ATF1	chr22:23180385-23181176	K562	blood:	n/a	n/a
16	ATF1	chr22:23162146-23162529	K562	blood:	n/a	n/a
17	ATF1	chr22:23112583-23113133	K562	blood:	n/a	n/a
18	ATF1	chr22:23145476-23145970	K562	blood:	n/a	n/a
19	ATF1	chr22:23203811-23204540	K562	blood:	n/a	n/a
20	ATF1	chr22:23246000-23246189	K562	blood:	n/a	n/a
21	ATF1	chr22:23167850-23168098	K562	blood:	n/a	n/a
22	ATF1	chr22:23104460-23104637	K562	blood:	n/a	n/a
23	ATF1	chr22:23205769-23206087	K562	blood:	n/a	n/a
24	ATF1	chr22:23138336-23138394	K562	blood:	n/a	n/a
25	ATF1	chr22:23178289-23179177	K562	blood:	n/a	n/a
26	ATF1	chr22:23253446-23253456	K562	blood:	n/a	n/a
27	ATF1	chr22:23147092-23147291	K562	blood:	n/a	n/a
28	ATF1	chr22:23172635-23172845	K562	blood:	n/a	n/a
29	ATF1	chr22:23186155-23186439	K562	blood:	n/a	n/a
30	ATF1	chr22:23111363-23111688	K562	blood:	n/a	n/a
31	ATF1	chr22:23232791-23232914	K562	blood:	n/a	n/a
32	ATF1	chr22:23213112-23213543	K562	blood:	n/a	n/a
33	ATF1	chr22:23189882-23189945	K562	blood:	n/a	n/a
34	ATF1	chr22:23223851-23224186	K562	blood:	n/a	n/a
35	ATF1	chr22:23254917-23254918	K562	blood:	n/a	n/a
36	ATF1	chr22:23166948-23167148	K562	blood:	n/a	n/a
37	ATF1	chr22:23124165-23124332	K562	blood:	n/a	n/a
38	ATF1	chr22:23251232-23251667	K562	blood:	n/a	n/a
39	ATF1	chr22:23138855-23138979	K562	blood:	n/a	n/a
40	ATF1	chr22:23129491-23129501	K562	blood:	n/a	n/a
41	ATF1	chr22:23203233-23203487	K562	blood:	n/a	n/a
42	ATF1	chr22:23158393-23159026	K562	blood:	n/a	n/a
43	ATF1	chr22:23146315-23146329	K562	blood:	n/a	n/a
44	ATF1	chr22:23249632-23250275	K562	blood:	n/a	n/a
45	ATF1	chr22:23202075-23202247	K562	blood:	n/a	n/a
46	ATF1	chr22:23151564-23151800	K562	blood:	n/a	n/a
47	ATF1	chr22:23195676-23195779	K562	blood:	n/a	n/a
48	ATF1	chr22:23125167-23125353	K562	blood:	n/a	n/a
49	ATF1	chr22:23206769-23207349	K562	blood:	n/a	n/a
50	ATF1	chr22:23107124-23107149	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	T-47D	breast:	n/a
2	chr22:23196971-23197021	SK-N-SH	brain:	n/a
3	chr22:23196971-23197021	HEEpiC	esophagus:	n/a
4	chr22:23196971-23197021	HRCEpiC	kidney:	n/a
5	chr22:23196971-23197021	HCF	heart:	n/a
6	chr22:23196862-23196912	Hela-S3	cervix:	n/a
7	chr22:23196862-23196912	NT2-D1	testis:	n/a
8	chr22:23196862-23196912	NHBE	bronchial:	n/a
9	chr22:23196862-23196912	MCF-7	breast:	n/a
10	chr22:23196862-23196912	AG09319	gingival:	n/a
11	chr22:23196862-23196912	BJ	skin:	n/a
12	chr22:23196862-23196912	U87	brain:	n/a
13	chr22:23196862-23196912	HIPEpiC	eye:	n/a
14	chr22:23196862-23196912	HL-60	blood:	n/a
15	chr22:23196862-23196912	HEEpiC	esophagus:	n/a
16	chr22:23196862-23196912	GM19239	blood:	n/a
17	chr22:23196862-23196912	GM12891	blood:	n/a
18	chr22:23196971-23197021	HEK293	kidney:	embryo
19	chr22:23196971-23197021	BJ	skin:	n/a
20	chr22:23196862-23196912	MCF10A-Er-Src	breast:	n/a
21	chr22:23196862-23196912	Caco-2	colon:	n/a
22	chr22:23196971-23197021	HRPEpiC	eye:	n/a
23	chr22:23196971-23197021	GM06990	blood:	n/a
24	chr22:23196862-23196912	HMEC	breast:	n/a
25	chr22:23196862-23196912	Jurkat	blood:	n/a
26	chr22:23196862-23196912	GM12878	blood:	n/a
27	chr22:23196971-23197021	AG04449	skin:	fetal
28	chr22:23196862-23196912	Hepatocyte	liver:	n/a
29	chr22:23196862-23196912	NH-A	brain:	n/a
30	chr22:23196862-23196912	HRPEpiC	eye:	n/a
31	chr22:23196862-23196912	HCM	heart:	n/a
32	chr22:23196862-23196912	BE2_C	brain:	n/a
33	chr22:23196971-23197021	AG10803	skin:	n/a
34	chr22:23196862-23196912	LNCaP	prostate:	n/a
35	chr22:23196862-23196912	HRCEpiC	kidney:	n/a
36	chr22:23196971-23197021	NT2-D1	testis:	n/a
37	chr22:23196971-23197021	ovcar-3	ovarian:	n/a
38	chr22:23196862-23196912	NB4	blood:	n/a
39	chr22:23196971-23197021	SK-N-MC	brain:	n/a
40	chr22:23196862-23196912	SK-N-SH_RA	brain:	n/a
41	chr22:23196862-23196912	PANC-1	pancreas:	n/a
42	chr22:23196862-23196912	HEK293	kidney:	embryo
43	chr22:23196971-23197021	HL-60	blood:	n/a
44	chr22:23196862-23196912	SKMC	muscle:	n/a
45	chr22:23196971-23197021	PrEC	prostate:	n/a
46	chr22:23196862-23196912	AG04449	skin:	fetal
47	chr22:23196971-23197021	NB4	blood:	n/a
48	chr22:23196971-23197021	U87	brain:	n/a
49	chr22:23196971-23197021	K562	blood:	n/a
50	chr22:23196862-23196912	HRE	kidney:	n/a

(count:338 , 50 per page) page: 1 2 3 4 5 6 7

No.	Distal block	Cell Line	Cell type
1	chr22:23129985..23132046-chr22:23176209..23178175,2	K562	blood:
2	chr22:23144093..23145546-chr22:23219335..23220248,5	K562	blood:
3	chr22:23190687..23191337-chr22:23223552..23224057,2	K562	blood:
4	chr22:23146953..23149689-chr22:23184394..23186463,2	K562	blood:
5	chr22:23163155..23166043-chr22:23174311..23175945,2	K562	blood:
6	chr22:23130105..23131333-chr22:23284629..23286108,6	K562	blood:
7	chr22:22929141..22930076-chr22:23197585..23198490,2	K562	blood:
8	chr22:23152570..23153090-chr22:23180111..23180906,2	K562	blood:
9	chr22:23181478..23184287-chr22:23201719..23203304,2	K562	blood:
10	chr22:23130356..23131091-chr22:23296600..23297514,2	K562	blood:
11	chr22:23152561..23153138-chr22:23161897..23162687,2	K562	blood:
12	chr22:23052682..23053499-chr22:23107688..23108625,2	K562	blood:
13	chr22:23221907..23223794-chr22:23225476..23227325,2	K562	blood:
14	chr22:23130059..23131366-chr22:23152103..23153385,6	K562	blood:
15	chr22:23152352..23153037-chr22:23301206..23301893,2	K562	blood:
16	chr22:23082377..23083071-chr22:23239318..23240169,2	K562	blood:
17	chr22:23211923..23213773-chr22:23255638..23258101,2	K562	blood:
18	chr22:23130412..23130917-chr22:23197633..23198506,2	K562	blood:
19	chr22:23130817..23133388-chr22:23167138..23169692,2	K562	blood:
20	chr22:23095831..23096696-chr22:23112250..23113064,2	MCF-7	breast:
21	chr22:23230851..23232657-chr22:23258084..23260097,2	K562	blood:
22	chr22:23190277..23191237-chr22:23225486..23226820,11	K562	blood:
23	chr22:23095720..23096793-chr22:23225681..23226777,7	K562	blood:
24	chr22:23112599..23113281-chr7:123133990..123134500,2	K562	blood:
25	chr22:23212291..23215001-chr22:23221350..23224011,2	K562	blood:
26	chr22:23144565..23145628-chr22:23297770..23298814,8	K562	blood:
27	chr22:23112209..23116239-chr22:23118193..23121960,6	K562	blood:
28	chr22:23196132..23197336-chr22:23225306..23226816,4	K562	blood:
29	chr22:23112678..23113353-chr22:23153551..23154062,2	K562	blood:
30	chr22:23190657..23191158-chr22:23221234..23221856,2	MCF-7	breast:
31	chr22:23190239..23191191-chr22:23300316..23300864,2	K562	blood:
32	chr22:23143333..23145097-chr22:23222921..23225680,2	K562	blood:
33	chr22:23114436..23117393-chr22:23139915..23142223,3	K562	blood:
34	chr22:23168657..23170784-chr22:23171805..23174406,4	K562	blood:
35	chr22:23095767..23096731-chr22:23112385..23113012,4	K562	blood:
36	chr22:23197959..23198625-chr22:23297727..23298760,3	MCF-7	breast:
37	chr22:23125400..23127839-chr22:23232318..23234700,2	K562	blood:
38	chr22:23112678..23113353-chr22:23153551..23154062,2	K562	blood:
39	chr22:23146528..23149689-chr22:23183624..23186463,3	K562	blood:
40	chr22:23088995..23090989-chr22:23106393..23109304,2	K562	blood:
41	chr22:23143003..23150762-chr22:23151719..23155574,10	K562	blood:
42	chr22:23095801..23096340-chr22:23225919..23226704,2	MCF-7	breast:
43	chr22:23111970..23113299-chr22:23297822..23298802,4	K562	blood:
44	chr22:23204580..23206520-chr22:23226685..23228516,2	K562	blood:
45	chr22:23112382..23113353-chr22:23225822..23226588,5	K562	blood:
46	chr22:23180259..23182675-chr22:23196400..23198584,2	K562	blood:
47	chr22:23104599..23107279-chr22:23109416..23113501,6	K562	blood:
48	chr22:23194788..23197635-chr22:23204916..23207702,3	K562	blood:
49	chr22:23151972..23153147-chr22:23296580..23298928,25	K562	blood:
50	chr22:23130308..23131793-chr22:23219322..23220417,8	K562	blood:

(count:21 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RTDR1-4	chr22:23243305-23243327	NONHSAT083834
2	lnc-POM121L1P-4	chr22:23155178-23156344	ucscGeneNc_uc002zzz_1
3	lnc-RTDR1-1	chr22:23248506-23248831	NONHSAT083775
4	lnc-IGLL5-4	chr22:23192550-23192799	NONHSAT083828
5	lnc-RTDR1-4	chr22:23243491-23243570	NONHSAT083834
6	lnc-RTDR1-4	chr22:23242926-23243073	NONHSAT083834
7	lnc-GGTLC2-10	chr22:23104787-23105009	NONHSAT083819
8	lnc-D87017.1-3	chr22:23252998-23253245	NONHSAT083835
9	lnc-POM121L1P-5	chr22:23197736-23197863	refGeneNc_260_NR_028483
10	lnc-IGLL5-5	chr22:23180779-23181049	NONHSAT083827
11	lnc-D87017.1-2	chr22:23257805-23258097	NONHSAT083836
12	lnc-RTDR1-6	chr22:23220011-23220059	NONHSAT083832
13	lnc-POM121L1P-5	chr22:23164245-23164726	refGeneNc_260_NR_028483
14	lnc-POM121L1P-5	chr22:23178179-23178296	refGeneNc_260_NR_028483
15	lnc-POM121L1P-5	chr22:23167960-23168108	refGeneNc_260_NR_028483
16	lnc-RTDR1-6	chr22:23221233-23221684	NONHSAT083832
17	lnc-POM121L1P-5	chr22:23165262-23165535	refGeneNc_260_NR_028483
18	lnc-IGLL5-7	chr22:23157168-23157423	NONHSAT083824
19	lnc-POM121L1P-5	chr22:23220658-23220783	refGeneNc_260_NR_028483
20	lnc-POM121L1P-5	chr22:23200951-23201121	refGeneNc_260_NR_028483
21	lnc-POM121L1P-5	chr22:23186421-23186739	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
ENSG00000207833	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
IGLV3-13	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
IGLV3-12	TF binding region
ENSG00000231392	TF binding region
IGLJ2	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
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
ENSG00000207833	CpG island
MIR650	CpG island
ENSG00000226477	CpG island
ENSG00000207832	CpG island
IGLV4-3	CpG island
IGLJ5	CpG island
IGLV3-2	CpG island
IGLV3-13	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
IGLV3-12	CpG island
ENSG00000231392	CpG island
IGLJ2	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
IGLC6	CpG island
IGLV3-9	CpG island
IGLV3-1	CpG island
IGLJ1	CpG island
IGLC2	CpG island
ENSG00000253448	chromatin interactions
ENSG00000231392	chromatin interactions
ENSG00000211666	chromatin interactions
ENSG00000211665	chromatin interactions
ENSG00000236794	chromatin interactions
ENSG00000211677	chromatin interactions
ENSG00000254030	chromatin interactions
ENSG00000211679	chromatin interactions
ENSG00000211680	chromatin interactions
ENSG00000211663	chromatin interactions
ENSG00000207832	chromatin interactions
ENSG00000211657	chromatin interactions
ENSG00000211670	chromatin interactions
ENSG00000211681	chromatin interactions
ENSG00000254709	chromatin interactions
ENSG00000264824	chromatin interactions
ENSG00000211678	chromatin interactions
ENSG00000254029	chromatin interactions
ENSG00000211675	chromatin interactions
ENSG00000207836	chromatin interactions
ENSG00000211676	chromatin interactions
ENSG00000211669	chromatin interactions
ENSG00000211685	chromatin interactions
ENSG00000253590	chromatin interactions
ENSG00000223999	chromatin interactions
ENSG00000253234	chromatin interactions
ENSG00000211667	chromatin interactions
ENSG00000226477	chromatin interactions
ENSG00000211674	chromatin interactions
ENSG00000211673	chromatin interactions
ENSG00000211671	chromatin interactions
ENSG00000211672	chromatin interactions
ENSG00000253963	chromatin interactions
ENSG00000211682	chromatin interactions
ENSG00000254077	chromatin interactions
ENSG00000187556	chromatin interactions
ENSG00000207835	chromatin interactions
ENSG00000222037	chromatin interactions
ENSG00000186716	chromatin interactions
ENSG00000211655	chromatin interactions
ENSG00000237127	chromatin interactions
ENSG00000226420	chromatin interactions
ENSG00000211684	chromatin interactions
ING4	Mature miRNA region

Extended variants
information (count: 9623 )
Associated
traits (count: 219 )

Variant overlapped rSNPs/rCNVs (count:9623 , 50 per page) page: 1 2 3 4 5 6 7 ... 193

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192279591	chr22:23101776-23101777	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs545548196	chr22:23101786-23101787	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs565072345	chr22:23101788-23101789	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs554326129	chr22:23101799-23101800	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs547926164	chr22:23101813-23101814	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs544479030	chr22:23101818-23101819	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs561239493	chr22:23101853-23101854	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs181882309	chr22:23101869-23101870	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs370396562	chr22:23101876-23101877	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs187011675	chr22:23101922-23101923	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs191397918	chr22:23101928-23101929	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs112555725	chr22:23101929-23101930	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs182747081	chr22:23101930-23101931	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs565625215	chr22:23101931-23101932	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs551892181	chr22:23101990-23101991	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs187038460	chr22:23102005-23102006	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs537248810	chr22:23102011-23102012	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs189982141	chr22:23102012-23102013	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs567966952	chr22:23102013-23102014	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs536580509	chr22:23102016-23102017	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs553310960	chr22:23102020-23102021	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs528082146	chr22:23102077-23102078	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs573204925	chr22:23102086-23102087	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs1807647	chr22:23102088-23102089	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs34220900	chr22:23102125-23102126	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs559103573	chr22:23102130-23102131	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs575463721	chr22:23102170-23102171	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs182188687	chr22:23102171-23102172	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs544434277	chr22:23102193-23102194	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs560958617	chr22:23102198-23102199	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs188950858	chr22:23102207-23102208	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs554738353	chr22:23102215-23102216	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs193241600	chr22:23102224-23102225	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs374505692	chr22:23102227-23102228	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs59252726	chr22:23102239-23102240	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs185394508	chr22:23102265-23102266	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs551806714	chr22:23102269-23102270	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs537100621	chr22:23102280-23102281	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs188664589	chr22:23102281-23102282	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs367890679	chr22:23102290-23102291	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs62220408	chr22:23102291-23102292	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs536950308	chr22:23102296-23102297	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs559419960	chr22:23102309-23102310	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs142770055	chr22:23102311-23102312	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs6003280	chr22:23102312-23102313	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs191950958	chr22:23102368-23102369	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs184119325	chr22:23102385-23102386	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs6003281	chr22:23102411-23102412	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs538369250	chr22:23102430-23102431	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs556605708	chr22:23102436-23102437	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	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:1007 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23095200-23103200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr22:23099600-23104400	Weak transcription	Right Atrium	heart
3	chr22:23100200-23102200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr22:23101000-23102200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr22:23101200-23101800	Enhancers	Primary T cells fromperipheralblood	blood
6	chr22:23101200-23101800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr22:23101200-23101800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr22:23101200-23105200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr22:23101400-23101800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr22:23101600-23102000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
11	chr22:23101800-23102200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
12	chr22:23101800-23102200	Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr22:23101800-23103000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr22:23101800-23103000	Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr22:23102000-23102400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
16	chr22:23102200-23102600	Enhancers	Primary T cells fromperipheralblood	blood
17	chr22:23102200-23103000	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr22:23102200-23103000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr22:23102200-23103200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr22:23102400-23102600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr22:23102600-23103200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr22:23102600-23104200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr22:23103000-23103200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr22:23103000-23103200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr22:23103000-23106600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr22:23103000-23116800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr22:23103200-23103400	Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr22:23103200-23104000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr22:23103200-23105000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr22:23103200-23106800	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr22:23103200-23107000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr22:23103400-23104600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr22:23104000-23108000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr22:23104200-23105800	Genic enhancers	Primary T cells fromperipheralblood	blood
35	chr22:23104400-23104600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr22:23104400-23105200	Strong transcription	Right Atrium	heart
37	chr22:23104600-23106000	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr22:23105000-23107200	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr22:23105200-23105800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr22:23105200-23106200	Weak transcription	Right Atrium	heart
41	chr22:23105800-23106600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr22:23105800-23107800	Enhancers	Primary T cells fromperipheralblood	blood
43	chr22:23106200-23106400	Strong transcription	Right Atrium	heart
44	chr22:23106400-23106800	Weak transcription	Right Atrium	heart
45	chr22:23106600-23106800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr22:23106600-23107200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr22:23106800-23107000	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr22:23106800-23107000	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr22:23106800-23107200	Strong transcription	Right Atrium	heart
50	chr22:23106800-23107200	Enhancers	HSMMtube	muscle

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