Variant report

Variant	rs3761418
Chromosome Location	chr22:23521094-23521095
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr22:23520612-23521340	Hela-S3	cervix:	n/a	chr22:23520806-23520816 chr22:23520806-23520818 chr22:23520801-23520820 chr22:23520804-23520817
2	TBL1XR1	chr22:23520604-23527305	K562	blood:	n/a	n/a
3	CTCF	chr22:23520610-23521118	MCF-7	breast:	n/a	chr22:23520803-23520816 chr22:23520800-23520818 chr22:23520802-23520823
4	TBL1XR1	chr22:23520619-23523842	K562	blood:	n/a	n/a
5	HDAC2	chr22:23520523-23526205	K562	blood:	n/a	chr22:23521032-23521051
6	POLR2A	chr22:23520633-23526356	K562	blood:	n/a	n/a
7	CUX1	chr22:23520618-23522723	K562	blood:	n/a	chr22:23521379-23521393
8	STAT5A	chr22:23520445-23522610	K562	blood:	n/a	chr22:23521510-23521521 chr22:23522547-23522559
9	RAD21	chr22:23520580-23521209	A549	lung:	n/a	chr22:23520806-23520816 chr22:23520806-23520818 chr22:23520801-23520820 chr22:23520804-23520817
10	EP300	chr22:23520596-23523878	K562	blood:	n/a	chr22:23522854-23522870 chr22:23521047-23521060 chr22:23522997-23523010 chr22:23521637-23521650
11	CTCF	chr22:23520447-23521176	A549	lung:	n/a	chr22:23520803-23520816 chr22:23520800-23520818 chr22:23520802-23520823
12	ZNF143	chr22:23520620-23521267	GM12878	blood:	n/a	n/a
13	SIN3A	chr22:23520614-23521185	H1-hESC	embryonic stem cell:	n/a	n/a
14	UBTF	chr22:23520613-23526470	K562	blood:	n/a	n/a
15	CHD2	chr22:23520603-23521193	K562	blood:	n/a	n/a
16	TAL1	chr22:23520659-23522885	K562	blood:	n/a	n/a
17	EGR1	chr22:23520563-23521198	K562	blood:	n/a	chr22:23520830-23520837 chr22:23520829-23520844
18	RAD21	chr22:23520611-23521189	MCF-7	breast:	n/a	chr22:23520806-23520816 chr22:23520806-23520818 chr22:23520801-23520820 chr22:23520804-23520817
19	RAD21	chr22:23520593-23521796	K562	blood:	n/a	chr22:23520806-23520816 chr22:23520806-23520818 chr22:23520801-23520820 chr22:23520804-23520817
20	TEAD4	chr22:23520448-23527326	K562	blood:	n/a	n/a
21	TBP	chr22:23520623-23526179	K562	blood:	n/a	n/a
22	RAD21	chr22:23520590-23521366	IMR90	lung:	n/a	chr22:23520806-23520816 chr22:23520806-23520818 chr22:23520801-23520820 chr22:23520804-23520817
23	RAD21	chr22:23520523-23521174	H1-hESC	embryonic stem cell:	n/a	chr22:23520806-23520816 chr22:23520806-23520818 chr22:23520801-23520820 chr22:23520804-23520817
24	ZNF143	chr22:23520626-23521164	H1-hESC	embryonic stem cell:	n/a	n/a
25	RAD21	chr22:23520599-23521103	K562	blood:	n/a	chr22:23520806-23520816 chr22:23520806-23520818 chr22:23520801-23520820 chr22:23520804-23520817
26	ZC3H11A	chr22:23520594-23526970	K562	blood:	n/a	n/a
27	FOSL1	chr22:23520529-23522897	K562	blood:	n/a	chr22:23522595-23522604
28	MAX	chr22:23520537-23526174	K562	blood:	n/a	chr22:23524440-23524449 chr22:23525734-23525744 chr22:23524440-23524449 chr22:23522597-23522607 chr22:23524441-23524448
29	GTF2F1	chr22:23520624-23526023	K562	blood:	n/a	n/a
30	MYC	chr22:23520609-23526146	K562	blood:	n/a	chr22:23524440-23524449 chr22:23525734-23525744 chr22:23524440-23524449 chr22:23522597-23522607 chr22:23524441-23524448
31	RAD21	chr22:23520592-23521210	MCF-7	breast:	n/a	chr22:23520806-23520816 chr22:23520806-23520818 chr22:23520801-23520820 chr22:23520804-23520817
32	CBX3	chr22:23520451-23527677	K562	blood:	n/a	chr22:23520879-23520890
33	RAD21	chr22:23520581-23521128	HCT-116	colon:	n/a	chr22:23520806-23520816 chr22:23520806-23520818 chr22:23520801-23520820 chr22:23520804-23520817
34	SMC3	chr22:23520596-23521229	HepG2	liver:	n/a	chr22:23520802-23520816
35	RAD21	chr22:23520451-23522047	SK-N-SH	brain:	n/a	chr22:23520806-23520816 chr22:23520806-23520818 chr22:23520801-23520820 chr22:23520804-23520817
36	RAD21	chr22:23520620-23521211	HepG2	liver:	n/a	chr22:23520806-23520816 chr22:23520806-23520818 chr22:23520801-23520820 chr22:23520804-23520817
37	SMC3	chr22:23520607-23521358	Hela-S3	cervix:	n/a	chr22:23520802-23520816
38	RAD21	chr22:23520557-23521120	SK-N-SH_RA	brain:	n/a	chr22:23520806-23520816 chr22:23520806-23520818 chr22:23520801-23520820 chr22:23520804-23520817
39	RAD21	chr22:23520541-23521103	A549	lung:	n/a	chr22:23520806-23520816 chr22:23520806-23520818 chr22:23520801-23520820 chr22:23520804-23520817
40	ELK1	chr22:23520614-23521287	K562	blood:	n/a	n/a
41	RFX5	chr22:23520628-23522640	K562	blood:	n/a	n/a
42	PML	chr22:23520528-23526389	K562	blood:	n/a	n/a
43	TEAD4	chr22:23520525-23527111	K562	blood:	n/a	n/a
44	CTCF	chr22:23520530-23521303	K562	blood:	n/a	chr22:23520803-23520816 chr22:23520800-23520818 chr22:23520802-23520823
45	ZNF263	chr22:23520618-23525299	K562	blood:	n/a	chr22:23521369-23521378 chr22:23524591-23524600 chr22:23524513-23524522 chr22:23524594-23524603
46	HCFC1	chr22:23520599-23526421	K562	blood:	n/a	n/a
47	MTA3	chr22:23520537-23521094	GM12878	blood:	n/a	n/a
48	CTCF	chr22:23521040-23521190	GM12875	blood:	n/a	n/a
49	RAD21	chr22:23520621-23521209	ECC-1	luminal epithelium:	n/a	chr22:23520806-23520816 chr22:23520806-23520818 chr22:23520801-23520820 chr22:23520804-23520817
50	HDAC2	chr22:23520527-23521458	K562	blood:	n/a	chr22:23521032-23521051

No.	Distal block	Cell Line	Cell type
1	chr22:23520788..23521291-chr22:23578289..23578791,2	K562	blood:
2	chr12:120728308..120731053-chr22:23519442..23522442,4	MCF-7	breast:
3	chr22:23520289..23523680-chr22:23623216..23625593,134	K562	blood:
4	chr22:23520315..23521264-chr22:23627226..23627950,2	K562	blood:
5	chr22:23520909..23526395-chr22:23622717..23628021,9	MCF-7	breast:
6	chr22:23520547..23521329-chr9:133815605..133817046,4	K562	blood:
7	chr22:23520612..23521284-chr22:23637283..23637857,2	K562	blood:
8	chr12:120728953..120730250-chr22:23520442..23521442,4	MCF-7	breast:
9	chr22:23520679..23521332-chr22:23632210..23633200,4	MCF-7	breast:
10	chr22:23520292..23521317-chr9:133738584..133739634,13	K562	blood:
11	chr22:23520782..23521294-chr22:23611645..23612373,2	MCF-7	breast:
12	chr22:23520336..23521327-chr9:133646057..133647024,3	K562	blood:
13	chr22:23520350..23521289-chr22:23611618..23612941,3	K562	blood:
14	chr22:23498268..23499065-chr22:23520404..23521247,2	K562	blood:
15	chr22:23520305..23521477-chr22:23623626..23624696,9	MCF-7	breast:
16	chr22:23520400..23521352-chr9:133873402..133874291,3	K562	blood:
17	chr22:23520356..23521778-chr9:133741049..133742733,6	K562	blood:
18	chr12:120729243..120729861-chr22:23520462..23521462,3	MCF-7	breast:
19	chr12:120728297..120729929-chr22:23519462..23522442,4	MCF-7	breast:
20	chr22:23519615..23526434-chr22:23614924..23625964,20	MCF-7	breast:
21	chr22:23520308..23521485-chr22:23625664..23627054,5	K562	blood:
22	chr22:23519543..23521281-chr22:23587399..23590262,2	MCF-7	breast:
23	chr22:23520309..23521292-chr22:23592207..23593551,8	K562	blood:
24	chr22:23520778..23521515-chr22:23623922..23624706,2	MCF-7	breast:
25	chr22:23301479..23302049-chr22:23520363..23521253,2	K562	blood:
26	chr22:23520305..23521309-chr22:23631752..23633320,11	K562	blood:
27	chr22:23520341..23521308-chr22:23602297..23603379,4	K562	blood:
28	chr22:23519910..23521360-chr22:23623104..23624706,17	MCF-7	breast:
29	chr12:120728333..120732236-chr22:23519442..23524202,7	K562	blood:
30	chr22:23520263..23521248-chr9:133735957..133736953,3	K562	blood:

Variant related genes	Relation type
BCR	TF binding region
ENSG00000202538	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000186716	Chromatin interaction

Extended variants
information (count: 171 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:147)

rs_ID	r²[population]
rs1051875	0.84[JPT][hapmap]
rs10775764	0.84[ASN][1000 genomes]
rs12167308	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs12484280	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13054985	0.83[JPT][hapmap]
rs1805058	0.88[CEU][hapmap];0.84[JPT][hapmap]
rs1807460	0.81[CHB][hapmap]
rs1807702	0.82[ASN][1000 genomes]
rs1807705	0.82[ASN][1000 genomes]
rs1807706	0.84[ASN][1000 genomes]
rs1858746	0.84[CEU][hapmap]
rs1989777	0.84[CEU][hapmap]
rs2008176	0.84[ASN][1000 genomes]
rs2071431	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2071432	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2071433	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2071434	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2071435	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2071436	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2106109	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2157710	0.80[CHB][hapmap];0.84[JPT][hapmap]
rs2246716	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs2249692	0.90[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2266995	0.84[CEU][hapmap]
rs2266997	0.84[CEU][hapmap];0.84[JPT][hapmap];0.82[MEX][hapmap]
rs2266998	0.84[CEU][hapmap];0.87[MEX][hapmap]
rs2266999	0.88[CEU][hapmap]
rs2267000	0.80[CHB][hapmap]
rs2267004	0.84[JPT][hapmap]
rs2267006	0.84[JPT][hapmap]
rs2267007	0.90[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs2267008	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2267009	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2267010	0.85[JPT][hapmap]
rs2267011	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2267012	0.85[JPT][hapmap]
rs2267013	0.84[GIH][hapmap]
rs2267014	0.81[JPT][hapmap]
rs2267016	0.80[GIH][hapmap]
rs2283802	0.92[CEU][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.82[MEX][hapmap]
rs2283803	0.80[CHB][hapmap];0.84[JPT][hapmap]
rs2283804	0.84[JPT][hapmap]
rs2301554	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs2301555	0.90[CHB][hapmap]
rs2330336	0.88[CEU][hapmap];0.84[JPT][hapmap]
rs2330338	0.84[CEU][hapmap];0.82[MEX][hapmap]
rs2330361	0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs3788343	0.84[CEU][hapmap];0.82[MEX][hapmap]
rs3788347	0.84[JPT][hapmap]
rs3788348	0.84[JPT][hapmap]
rs3788356	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3788357	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3810614	0.84[CEU][hapmap]
rs3827315	0.84[CEU][hapmap];0.82[MEX][hapmap]
rs4552283	0.84[ASN][1000 genomes]
rs4820536	0.88[CEU][hapmap]
rs4820537	0.80[CHB][hapmap];0.84[JPT][hapmap]
rs4820539	0.84[JPT][hapmap]
rs4820541	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4820542	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4822354	0.84[CEU][hapmap]
rs4822357	0.84[JPT][hapmap]
rs4822359	0.84[JPT][hapmap]
rs4822360	0.84[JPT][hapmap]
rs4822361	0.84[JPT][hapmap]
rs4822362	0.84[JPT][hapmap]
rs4822369	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55637879	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5751578	0.83[CEU][hapmap]
rs5751579	0.83[CEU][hapmap]
rs5751587	0.81[JPT][hapmap]
rs5751589	0.84[JPT][hapmap]
rs5751593	0.90[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs5751596	0.90[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs5751597	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5751598	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5751600	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5751601	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5751602	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5751603	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5751606	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5751607	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5759593	0.84[JPT][hapmap]
rs5759598	0.84[JPT][hapmap]
rs5759600	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs5759603	0.84[JPT][hapmap]
rs5759604	1.00[CHB][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5759607	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5759608	0.90[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs5759609	0.84[ASN][1000 genomes]
rs5759611	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5759612	0.90[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs5759613	0.90[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs5759614	0.86[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs5759615	0.90[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs5759616	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5759617	0.83[ASN][1000 genomes]
rs5759618	0.84[ASN][1000 genomes]
rs5759619	0.90[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs5759620	0.90[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs5759621	0.90[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs5759622	0.82[ASN][1000 genomes]
rs5759624	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5759628	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5759629	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5759630	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5759631	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5759635	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5759637	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5759638	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57983679	0.82[ASN][1000 genomes]
rs5996483	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6003502	0.84[CEU][hapmap];0.84[JPT][hapmap];0.87[MEX][hapmap]
rs6003518	0.84[JPT][hapmap]
rs60037456	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6519411	0.84[CEU][hapmap];0.87[MEX][hapmap]
rs6519421	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs713617	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs713682	0.90[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs7289172	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73152631	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs737818	0.86[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs737819	0.90[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs737820	0.84[ASN][1000 genomes]
rs739362	0.84[CEU][hapmap];0.83[JPT][hapmap]
rs756633	0.90[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs768514	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8138361	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8142746	0.90[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs874138	0.88[CEU][hapmap];0.84[JPT][hapmap];0.82[MEX][hapmap]
rs885964	0.84[JPT][hapmap]
rs916583	0.84[JPT][hapmap]
rs916584	0.84[JPT][hapmap]
rs916585	0.81[JPT][hapmap]
rs9608085	0.84[ASN][1000 genomes]
rs9612234	0.84[JPT][hapmap]
rs9612237	0.83[JPT][hapmap]
rs9612244	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9612251	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9612252	0.90[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs9612253	0.84[ASN][1000 genomes]
rs9612257	0.84[JPT][hapmap]
rs9624047	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9624048	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9624049	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9624050	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9624051	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915235	chr22:22971768-23650987	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	101 gene(s)	inside rSNPs	diseases
2	esv3388845	chr22:22973346-23652447	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	100 gene(s)	inside rSNPs	diseases
3	nsv531799	chr22:22993679-23642142	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
4	nsv1061433	chr22:22997799-23649107	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
5	nsv521695	chr22:22998337-23648009	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
6	nsv915236	chr22:22998337-23650987	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
7	nsv588512	chr22:22998337-23667731	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
8	nsv531800	chr22:23002708-23648163	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
9	nsv916593	chr22:23002709-23648790	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
10	nsv993496	chr22:23002709-23654222	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
11	nsv1067002	chr22:23007167-23643363	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
12	nsv1067324	chr22:23007367-23654223	Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
13	nsv533839	chr22:23012013-23643223	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
14	nsv916933	chr22:23012069-23654237	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
15	nsv531801	chr22:23028586-23657804	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	92 gene(s)	inside rSNPs	diseases
16	nsv531802	chr22:23046186-23627391	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	85 gene(s)	inside rSNPs	diseases
17	nsv1060509	chr22:23055148-23648719	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	83 gene(s)	inside rSNPs	diseases
18	nsv1056324	chr22:23055148-23750989	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
19	nsv1062780	chr22:23060449-23648719	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
20	nsv948942	chr22:23063178-23645718	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
21	nsv1063200	chr22:23097177-23643224	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	80 gene(s)	inside rSNPs	diseases
22	nsv949250	chr22:23157485-23645718	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
23	nsv1057659	chr22:23400739-24138788	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
24	nsv1058604	chr22:23497533-23545751	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs3761418	BCR	cis	cerebellum	SCAN
rs3761418	BCR///FLJ42953///LOC644165///LOC728468	N/A	lymphoblastoid	RTeQTL
rs3761418	RAB36	cis	parietal	SCAN
rs3761418	PI4KA	cis	cerebellum	SCAN
rs3761418	BCR	Cis_1M	lymphoblastoid	RTeQTL
rs3761418	SUSD2	cis	cerebellum	SCAN

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23490400-23522000	Weak transcription	Aorta	Aorta
2	chr22:23516000-23522000	Enhancers	Primary T cells fromperipheralblood	blood
3	chr22:23517800-23522000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr22:23517800-23522200	Enhancers	GM12878-XiMat	blood
5	chr22:23518000-23521200	Strong transcription	Right Atrium	heart
6	chr22:23518000-23522000	Enhancers	Esophagus	oesophagus
7	chr22:23518000-23522200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr22:23519000-23521600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr22:23519200-23521400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr22:23519200-23522200	Enhancers	Primary B cells from peripheral blood	blood
11	chr22:23519400-23522000	Weak transcription	Thymus	Thymus
12	chr22:23519400-23522200	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr22:23519600-23521400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr22:23519600-23521400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr22:23519600-23521800	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr22:23519600-23522000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr22:23519600-23522000	Enhancers	Placenta	Placenta
18	chr22:23519600-23522200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr22:23519800-23521200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr22:23519800-23522000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr22:23519800-23522000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr22:23519800-23522200	Enhancers	Primary B cells from cord blood	blood
23	chr22:23520200-23521200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr22:23520200-23521800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr22:23520600-23521200	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr22:23520600-23521200	Enhancers	Colonic Mucosa	Colon
27	chr22:23520600-23521400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr22:23520600-23521400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr22:23520600-23521600	Enhancers	Brain Germinal Matrix	brain
30	chr22:23520600-23521600	Enhancers	Colon Smooth Muscle	Colon
31	chr22:23520600-23521600	Enhancers	Fetal Stomach	stomach
32	chr22:23520600-23521800	Enhancers	Brain Anterior Caudate	brain
33	chr22:23520600-23521800	Enhancers	Brain Hippocampus Middle	brain
34	chr22:23520600-23522000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr22:23520600-23522000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr22:23520600-23522000	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr22:23520600-23522000	Enhancers	Brain Cingulate Gyrus	brain
38	chr22:23520600-23522000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr22:23520600-23522000	Enhancers	Pancreas	Pancrea
40	chr22:23520600-23522200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr22:23520600-23522200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr22:23520600-23522200	Bivalent Enhancer	Fetal Muscle Leg	muscle
43	chr22:23520600-23522200	Enhancers	Fetal Thymus	thymus
44	chr22:23520600-23522400	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr22:23520800-23521200	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr22:23520800-23521400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr22:23520800-23521400	Enhancers	Fetal Lung	lung
48	chr22:23520800-23521600	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr22:23520800-23521600	Enhancers	HSMM	muscle
50	chr22:23520800-23521800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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