Variant report

Variant	rs2157050
Chromosome Location	chr6:26020431-26020432
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:92)
CpG islands
(count:61)
Chromatin interactive
region (count:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:92 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr6:26020253-26020849	H1-hESC	embryonic stem cell:	n/a	chr6:26020582-26020603
2	POLR2A	chr6:26020372-26022413	MCF-7	breast:	n/a	n/a
3	ATF2	chr6:26020387-26022657	H1-hESC	embryonic stem cell:	n/a	n/a
4	STAT3	chr6:26020004-26021961	MCF10A-Er-Src	breast:	n/a	chr6:26020153-26020173 chr6:26020159-26020167 chr6:26021706-26021718
5	TCF12	chr6:26020392-26022752	A549	lung:	n/a	n/a
6	GATA3	chr6:26020325-26022724	A549	lung:	n/a	chr6:26022570-26022578
7	POLR2A	chr6:26020353-26022750	PFSK-1	brain:	n/a	n/a
8	POU2F2	chr6:26020410-26022417	GM12878	blood:	n/a	n/a
9	POLR2A	chr6:26020302-26022826	SK-N-MC	brain:	n/a	n/a
10	CHD1	chr6:26020088-26022955	IMR90	lung:	n/a	chr6:26021724-26021734
11	ELF1	chr6:26020415-26021218	GM12878	blood:	n/a	n/a
12	MAZ	chr6:26020377-26022720	IMR90	lung:	n/a	n/a
13	BCL3	chr6:26020343-26021390	A549	lung:	n/a	n/a
14	POLR2A	chr6:26020261-26022922	Hela-S3	cervix:	n/a	n/a
15	CREB1	chr6:26020311-26022635	H1-hESC	embryonic stem cell:	n/a	n/a
16	BCL3	chr6:26020413-26022401	A549	lung:	n/a	n/a
17	REST	chr6:26020406-26022626	A549	lung:	n/a	n/a
18	ZBTB33	chr6:26020376-26022806	SK-N-SH	brain:	n/a	n/a
19	NFYA	chr6:26020427-26020926	Hela-S3	cervix:	n/a	chr6:26020581-26020595 chr6:26020581-26020596 chr6:26020581-26020596
20	CEBPB	chr6:26020199-26021525	GM12878	blood:	n/a	n/a
21	POLR2A	chr6:26020416-26022708	HCT-116	colon:	n/a	n/a
22	TAF1	chr6:26020390-26021086	MCF-7	breast:	n/a	n/a
23	TAF1	chr6:26020409-26022357	H1-hESC	embryonic stem cell:	n/a	n/a
24	SIX5	chr6:26020425-26021487	A549	lung:	n/a	n/a
25	POLR2A	chr6:26020426-26022668	GM12891	blood:	n/a	n/a
26	NFATC1	chr6:26020352-26021467	GM12878	blood:	n/a	n/a
27	POLR2A	chr6:26020429-26022746	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr6:26020386-26022783	GM12892	blood:	n/a	n/a
29	YY1	chr6:26020330-26021839	SK-N-SH	brain:	n/a	n/a
30	SIN3AK20	chr6:26020375-26022344	PANC-1	pancreas:	n/a	n/a
31	TAF1	chr6:26020376-26022345	A549	lung:	n/a	n/a
32	POLR2A	chr6:26020392-26022766	GM12892	blood:	n/a	n/a
33	FOXM1	chr6:26020408-26021273	MCF-7	breast:	n/a	n/a
34	POLR2A	chr6:26020298-26023073	MCF-7	breast:	n/a	n/a
35	POLR2A	chr6:26020351-26022880	PANC-1	pancreas:	n/a	n/a
36	POU2F2	chr6:26020425-26021335	GM12891	blood:	n/a	n/a
37	NFIC	chr6:26020408-26022138	GM12878	blood:	n/a	n/a
38	FOXM1	chr6:26020367-26022592	GM12878	blood:	n/a	n/a
39	RUNX3	chr6:26020426-26022513	GM12878	blood:	n/a	n/a
40	SP1	chr6:26020338-26021161	GM12878	blood:	n/a	chr6:26020582-26020603
41	POLR2A	chr6:26020325-26022664	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr6:26020235-26022819	H1-hESC	embryonic stem cell:	n/a	n/a
43	SP1	chr6:26020242-26022736	A549	lung:	n/a	chr6:26021704-26021718 chr6:26021819-26021833 chr6:26022535-26022556 chr6:26020582-26020603 chr6:26021825-26021839 chr6:26021745-26021759
44	RFX5	chr6:26020340-26021563	IMR90	lung:	n/a	chr6:26020584-26020593
45	ZBTB33	chr6:26020394-26022650	SK-N-SH	brain:	n/a	n/a
46	TAF1	chr6:26020398-26021129	MCF-7	breast:	n/a	n/a
47	SP1	chr6:26020254-26022763	HCT-116	colon:	n/a	chr6:26021704-26021718 chr6:26021819-26021833 chr6:26022535-26022556 chr6:26020582-26020603 chr6:26021825-26021839 chr6:26021745-26021759
48	SP1	chr6:26020243-26022617	A549	lung:	n/a	chr6:26021704-26021718 chr6:26021819-26021833 chr6:26022535-26022556 chr6:26020582-26020603 chr6:26021825-26021839 chr6:26021745-26021759
49	POLR2A	chr6:26020292-26022864	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr6:26020382-26022864	HUVEC	blood vessel:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:26020421-26020471	HCT-116	colon:	n/a
2	chr6:26020421-26020471	Jurkat	blood:	n/a
3	chr6:26020421-26020471	ECC-1	luminal epithelium:	n/a
4	chr6:26020421-26020471	T-47D	breast:	n/a
5	chr6:26020421-26020471	PFSK-1	brain:	n/a
6	chr6:26020421-26020471	GM19239	blood:	n/a
7	chr6:26020421-26020471	SK-N-SH_RA	brain:	n/a
8	chr6:26020421-26020471	GM12892	blood:	n/a
9	chr6:26020421-26020471	HUVEC	blood vessel:	n/a
10	chr6:26020421-26020471	AG04449	skin:	fetal
11	chr6:26020421-26020471	HIPEpiC	eye:	n/a
12	chr6:26020421-26020471	HL-60	blood:	n/a
13	chr6:26020421-26020471	HNPCEpiC	eye:	n/a
14	chr6:26020421-26020471	K562	blood:	n/a
15	chr6:26020421-26020471	H1-hESC	embryonic stem cell:	embryo
16	chr6:26020421-26020471	AG10803	skin:	n/a
17	chr6:26020421-26020471	HCPEpiC	choroid plexus:	n/a
18	chr6:26020421-26020471	SK-N-SH	brain:	n/a
19	chr6:26020421-26020471	BE2_C	brain:	n/a
20	chr6:26020421-26020471	AG04450	lung:	fetal
21	chr6:26020421-26020471	HCM	heart:	n/a
22	chr6:26020421-26020471	HPAEpiC	pulmonary alveolar:	n/a
23	chr6:26020421-26020471	RPTEC	kidney:	n/a
24	chr6:26020421-26020471	Hela-S3	cervix:	n/a
25	chr6:26020421-26020471	HAEpiC	amniotic membrane:	n/a
26	chr6:26020421-26020471	GM12878	blood:	n/a
27	chr6:26020421-26020471	PANC-1	pancreas:	n/a
28	chr6:26020421-26020471	AoSMC	blood vessel:	n/a
29	chr6:26020421-26020471	SK-N-MC	brain:	n/a
30	chr6:26020421-26020471	HRPEpiC	eye:	n/a
31	chr6:26020421-26020471	NT2-D1	testis:	n/a
32	chr6:26020421-26020471	SAEC	small airway:	n/a
33	chr6:26020421-26020471	GM12891	blood:	n/a
34	chr6:26020421-26020471	PrEC	prostate:	n/a
35	chr6:26020421-26020471	AG09319	gingival:	n/a
36	chr6:26020421-26020471	LNCaP	prostate:	n/a
37	chr6:26020421-26020471	Hepatocyte	liver:	n/a
38	chr6:26020421-26020471	HEK293	kidney:	embryo
39	chr6:26020421-26020471	MCF10A-Er-Src	breast:	n/a
40	chr6:26020421-26020471	HRE	kidney:	n/a
41	chr6:26020421-26020471	AG09309	skin:	n/a
42	chr6:26020421-26020471	GM06990	blood:	n/a
43	chr6:26020421-26020471	Caco-2	colon:	n/a
44	chr6:26020421-26020471	HMEC	breast:	n/a
45	chr6:26020421-26020471	HepG2	liver:	n/a
46	chr6:26020421-26020471	ProgFib	skin:	n/a
47	chr6:26020421-26020471	HRCEpiC	kidney:	n/a
48	chr6:26020421-26020471	NB4	blood:	n/a
49	chr6:26020421-26020471	HCF	heart:	n/a
50	chr6:26020421-26020471	ovcar-3	ovarian:	n/a

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26020264..26023736-chr6:26216792..26220704,4	MCF-7	breast:
2	chr15:51057335..51059727-chr6:26020365..26022635,2	MCF-7	breast:
3	chr6:26019943..26022943-chr6:27098200..27102148,7	MCF-7	breast:
4	chr1:151254480..151256114-chr6:26019497..26022258,2	MCF-7	breast:
5	chr6:26017750..26036418-chr6:26116875..26130553,65	MCF-7	breast:
6	chr6:26020084..26022289-chr6:32156982..32159978,2	MCF-7	breast:
7	chr14:93580806..93583213-chr6:26020153..26021693,2	MCF-7	breast:
8	chr6:26018945..26024445-chr6:27858774..27864727,7	MCF-7	breast:
9	chr6:26020316..26021315-chr6:26031886..26032731,2	Hela-S3	cervix:
10	chr6:26020252..26023371-chr6:27112256..27114607,3	MCF-7	breast:
11	chr6:25999088..26001646-chr6:26019532..26021139,2	MCF-7	breast:
12	chr16:68768954..68771315-chr6:26019686..26022088,2	MCF-7	breast:
13	chr6:26020260..26024010-chr6:27780504..27784636,5	MCF-7	breast:
14	chr5:133706714..133707696-chr6:26020039..26020817,2	Hela-S3	cervix:
15	chr16:67207864..67208415-chr6:26020204..26021119,2	Hela-S3	cervix:
16	chr6:26019620..26034082-chr6:26100355..26110400,33	MCF-7	breast:
17	chr1:28832300..28833074-chr6:26020398..26021163,2	Hela-S3	cervix:
18	chr1:180991642..180992156-chr6:26020348..26021120,2	Hela-S3	cervix:
19	chr6:26020317..26021145-chr9:123605108..123605640,2	Hela-S3	cervix:
20	chr6:26019525..26036768-chr6:26154463..26163826,38	MCF-7	breast:
21	chr11:118977716..118978572-chr6:26020266..26021245,2	Hela-S3	cervix:
22	chr6:26019660..26022685-chr6:27833901..27836758,3	MCF-7	breast:
23	chr19:1039734..1040641-chr6:26020384..26020987,2	Hela-S3	cervix:
24	chr12:53773232..53774107-chr6:26020191..26021115,2	Hela-S3	cervix:
25	chr6:26020331..26021154-chrX:16804305..16804892,2	Hela-S3	cervix:
26	chr6:26020054..26021608-chr6:30585009..30586563,2	K562	blood:
27	chr6:25990980..25994781-chr6:26019644..26023390,9	MCF-7	breast:
28	chr1:150521664..150522336-chr6:26020248..26020914,2	Hela-S3	cervix:
29	chr6:26019231..26022068-chr6:26204049..26206272,3	MCF-7	breast:
30	chr16:1426787..1429300-chr6:26019723..26021363,2	MCF-7	breast:
31	chr6:26019933..26022464-chr6:27857272..27860270,2	MCF-7	breast:

No data

Variant related genes	Relation type
HIST1H3A	TF binding region
HIST1H1A	TF binding region
HIST1H4A	TF binding region
HIST1H3A	CpG island
HIST1H4A	CpG island
HIST1H1A	CpG island
ENSG00000226752	Chromatin interaction
ENSG00000272558	Chromatin interaction
ENSG00000185591	Chromatin interaction
ENSG00000198518	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000172375	Chromatin interaction
ENSG00000196374	Chromatin interaction
ENSG00000225996	Chromatin interaction
ENSG00000119048	Chromatin interaction
ENSG00000184357	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000100605	Chromatin interaction
ENSG00000272065	Chromatin interaction
ENSG00000272462	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000140939	Chromatin interaction
ENSG00000135823	Chromatin interaction
ENSG00000273345	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000138600	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000143382	Chromatin interaction
ENSG00000086712	Chromatin interaction
ENSG00000059145	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000124693	Chromatin interaction
ENSG00000039068	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000180198	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000064687	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000197061	Chromatin interaction
ENSG00000006837	Chromatin interaction
ENSG00000095261	Chromatin interaction
ENSG00000204304	Chromatin interaction
ENSG00000182611	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000242125	Chromatin interaction
ENSG00000187475	Chromatin interaction
ENSG00000168274	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs1061482	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10807006	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10807007	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs1130000	0.92[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12195653	0.88[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs1436306	0.82[MEX][hapmap]
rs1436307	0.83[ASN][1000 genomes]
rs1436308	0.82[ASN][1000 genomes]
rs1436309	0.81[CEU][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1436310	0.81[CEU][hapmap]
rs1539183	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1540273	0.81[CHB][hapmap]
rs1541987	0.82[MEX][hapmap]
rs1800702	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1816546	0.83[ASN][1000 genomes]
rs1865760	0.81[CHB][hapmap];0.91[CHD][hapmap];0.87[MEX][hapmap]
rs1971509	0.80[EUR][1000 genomes]
rs2006736	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2008015	0.83[ASN][1000 genomes]
rs2013063	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2032443	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2032445	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2032449	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2032450	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2051544	0.92[CEU][hapmap];0.82[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2071297	0.81[CHB][hapmap];0.91[CHD][hapmap];0.87[MEX][hapmap]
rs2071298	0.81[CHB][hapmap];0.91[CHD][hapmap];0.87[MEX][hapmap]
rs2071299	0.81[CHB][hapmap];0.91[CHD][hapmap];0.87[MEX][hapmap]
rs2071300	0.85[CHD][hapmap]
rs2071301	0.81[CHB][hapmap];0.91[CHD][hapmap];0.83[MEX][hapmap]
rs2328903	0.88[CHB][hapmap];0.94[CHD][hapmap];0.84[JPT][hapmap];0.82[MEX][hapmap];0.83[ASN][1000 genomes]
rs2794719	0.88[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.88[YRI][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2794720	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2858993	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2876693	0.88[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs2876694	0.82[ASN][1000 genomes]
rs3752419	0.96[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3752420	0.96[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3752421	0.81[CHB][hapmap];0.91[CHD][hapmap];0.87[MEX][hapmap]
rs3799371	0.81[CHB][hapmap];0.91[CHD][hapmap];0.87[MEX][hapmap]
rs3799372	0.81[CHB][hapmap]
rs3799373	0.81[CHB][hapmap]
rs4529296	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6456705	0.83[ASN][1000 genomes]
rs6910138	0.81[CHB][hapmap]
rs6910174	0.81[CHB][hapmap];0.91[CHD][hapmap];0.87[MEX][hapmap]
rs6915834	0.83[ASN][1000 genomes]
rs6928717	0.92[AMR][1000 genomes]
rs6928951	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6932113	0.81[CHB][hapmap];0.91[CHD][hapmap];0.82[MEX][hapmap];0.83[TSI][hapmap]
rs6938083	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs6938233	0.81[CHB][hapmap];0.91[CHD][hapmap];0.87[MEX][hapmap]
rs6942196	0.92[CEU][hapmap];0.82[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7450342	0.86[CHD][hapmap]
rs7738854	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7749342	0.85[CHD][hapmap]
rs7753253	0.93[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7766342	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7770139	0.81[CHB][hapmap];0.91[CHD][hapmap];0.87[MEX][hapmap]
rs7772312	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9295677	0.81[ASN][1000 genomes]
rs9295684	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs9295685	0.88[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9295686	0.82[ASN][1000 genomes]
rs9295687	0.92[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.88[YRI][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9295688	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9348704	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs9348706	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9356991	0.81[CHB][hapmap];0.91[CHD][hapmap];0.87[MEX][hapmap]
rs9356998	0.82[ASN][1000 genomes]
rs9358893	0.81[CHB][hapmap]
rs9358896	0.88[CHB][hapmap];0.94[CHD][hapmap];0.84[JPT][hapmap];0.82[MEX][hapmap];0.83[ASN][1000 genomes]
rs9358902	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9358903	0.88[CEU][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs9358904	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9366634	0.92[CEU][hapmap];0.82[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9366636	0.82[ASN][1000 genomes]
rs9379801	0.81[CHB][hapmap]
rs9379806	0.83[ASN][1000 genomes]
rs9379807	0.82[ASN][1000 genomes]
rs9379814	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs9379815	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs9379818	0.92[CEU][hapmap];0.93[GIH][hapmap];0.93[LWK][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9379819	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs9379820	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9379821	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9379823	0.82[ASN][1000 genomes]
rs9379825	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9393681	0.83[ASW][hapmap];0.92[CEU][hapmap];0.91[GIH][hapmap];0.97[LWK][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.88[TSI][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs9393683	0.88[CEU][hapmap];0.86[GIH][hapmap];0.93[LWK][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs9461224	0.83[ASN][1000 genomes]
rs9461229	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9461230	0.96[CEU][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9467636	0.81[CHB][hapmap]
rs9467646	0.88[CHB][hapmap];0.94[CHD][hapmap];0.84[JPT][hapmap];0.82[MEX][hapmap];0.83[ASN][1000 genomes]
rs9467656	0.87[CEU][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs9467658	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9467662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9467663	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9467672	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv1030351	chr6:25813178-26352046	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1189 gene(s)	inside rSNPs	diseases
4	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1201 gene(s)	inside rSNPs	diseases
5	nsv1025237	chr6:25874326-26280867	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1166 gene(s)	inside rSNPs	diseases
6	nsv538163	chr6:25874326-26280867	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1166 gene(s)	inside rSNPs	diseases
7	nsv432857	chr6:25957109-26072445	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	451 gene(s)	inside rSNPs	diseases
8	nsv1015627	chr6:25973495-26100483	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	447 gene(s)	inside rSNPs	diseases
9	nsv538164	chr6:25973495-26100483	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	447 gene(s)	inside rSNPs	diseases
10	nsv1028456	chr6:25984457-26174993	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	873 gene(s)	inside rSNPs	diseases
11	nsv538165	chr6:25984457-26174993	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	873 gene(s)	inside rSNPs	diseases
12	nsv428137	chr6:25987413-26351920	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1181 gene(s)	inside rSNPs	diseases
13	nsv916992	chr6:25991630-26280921	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1159 gene(s)	inside rSNPs	diseases
14	nsv1028232	chr6:26005449-26319756	Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1171 gene(s)	inside rSNPs	diseases
15	nsv870314	chr6:26008435-26280807	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1151 gene(s)	inside rSNPs	diseases
16	nsv1023457	chr6:26014014-26305407	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1170 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs2157050	HIST1H2AH	cis	parietal	SCAN
rs2157050	HIST1H2AA	cis	parietal	SCAN
rs2157050	HIST1H1C	cis	parietal	SCAN
rs2157050	HIST1H2BC	cis	cerebellum	SCAN
rs2157050	HIST1H3B	cis	cerebellum	SCAN
rs2157050	U91328.19	cis	Adipose Subcutaneous	GTEx
rs2157050	HIST1H3H	cis	parietal	SCAN
rs2157050	U91328.19	cis	Muscle Skeletal	GTEx
rs2157050	BTN3A2	cis	cerebellum	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26001600-26020600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:26008800-26020600	Weak transcription	Spleen	Spleen
3	chr6:26017400-26020600	ZNF genes & repeats	GM12878-XiMat	blood
4	chr6:26017800-26020600	Weak transcription	Pancreas	Pancrea
5	chr6:26018000-26020600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:26018000-26020600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:26018000-26020600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr6:26018000-26020600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr6:26018000-26020600	Weak transcription	Brain Substantia Nigra	brain
10	chr6:26018200-26020600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:26018200-26020600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:26018200-26020600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:26018200-26020600	Weak transcription	Colonic Mucosa	Colon
14	chr6:26018200-26020600	Weak transcription	Esophagus	oesophagus
15	chr6:26018200-26020600	Weak transcription	Gastric	stomach
16	chr6:26018200-26020600	Weak transcription	Ovary	ovary
17	chr6:26018200-26020600	Weak transcription	HSMMtube	muscle
18	chr6:26018400-26020600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr6:26018400-26020600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr6:26018400-26020600	Weak transcription	Brain Angular Gyrus	brain
21	chr6:26018400-26020600	Weak transcription	Left Ventricle	heart
22	chr6:26018400-26020600	Weak transcription	Stomach Mucosa	stomach
23	chr6:26018400-26020600	Weak transcription	HSMM	muscle
24	chr6:26018400-26020800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:26018400-26020800	Weak transcription	Fetal Heart	heart
26	chr6:26018800-26020600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr6:26019000-26020600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:26019000-26023400	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr6:26019400-26020600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr6:26019400-26022800	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr6:26019600-26022800	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr6:26019800-26020600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
33	chr6:26019800-26020600	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr6:26019800-26020600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr6:26019800-26020600	Weak transcription	HepG2	liver
36	chr6:26019800-26021800	Active TSS	Stomach Smooth Muscle	stomach
37	chr6:26019800-26022000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:26019800-26022000	Active TSS	Duodenum Mucosa	Duodenum
39	chr6:26019800-26022200	Active TSS	Liver	Liver
40	chr6:26019800-26022600	Active TSS	H9 Cell Line	embryonic stem cell
41	chr6:26019800-26022600	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr6:26019800-26022800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr6:26019800-26023000	Active TSS	Brain Germinal Matrix	brain
44	chr6:26019800-26023400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:26020000-26020600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr6:26020000-26020600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr6:26020000-26020600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr6:26020000-26020600	Flanking Active TSS	Dnd41	blood
49	chr6:26020000-26020800	Active TSS	Osteobl	bone
50	chr6:26020000-26021000	Active TSS	NHEK	skin

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