Variant report

Variant	rs1412632
Chromosome Location	chr1:197036868-197036869
allele	C/T
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	TEAD4	chr1:197036290-197037011	HepG2	liver:	n/a	n/a
2	RXRA	chr1:197036597-197036903	HepG2	liver:	n/a	n/a
3	SP1	chr1:197036473-197036946	HepG2	liver:	n/a	n/a
4	MYBL2	chr1:197036333-197037059	HepG2	liver:	n/a	n/a
5	FOXA1	chr1:197036309-197036926	HepG2	liver:	n/a	chr1:197036411-197036423
6	HNF4A	chr1:197036600-197036882	HepG2	liver:	n/a	chr1:197036684-197036699 chr1:197036685-197036698 chr1:197036685-197036697
7	TCF7L2	chr1:197036693-197037023	HepG2	liver:	n/a	n/a
8	FOXA2	chr1:197036221-197037075	HepG2	liver:	n/a	chr1:197036411-197036423
9	CEBPB	chr1:197036597-197036965	HepG2	liver:	n/a	chr1:197036772-197036783
10	ARID3A	chr1:197036264-197036959	HepG2	liver:	n/a	n/a
11	NFIC	chr1:197036157-197036983	HepG2	liver:	n/a	n/a
12	FOXA1	chr1:197036352-197036885	HepG2	liver:	n/a	chr1:197036411-197036423
13	JUN	chr1:197036641-197036924	HepG2	liver:	n/a	n/a
14	EP300	chr1:197036477-197036909	HepG2	liver:	n/a	chr1:197036499-197036513
15	EP300	chr1:197036527-197036979	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
F13B	TF binding region

Extended variants
information (count: 127 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs1034162	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10429911	0.87[CEU][hapmap]
rs10732295	0.87[CEU][hapmap];1.00[GIH][hapmap];0.81[TSI][hapmap]
rs10732296	0.87[CEU][hapmap]
rs10733087	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10737687	0.91[EUR][1000 genomes]
rs10754213	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10754214	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10754215	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10754219	0.87[CEU][hapmap]
rs10801587	1.00[EUR][1000 genomes]
rs10801588	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10801590	1.00[EUR][1000 genomes]
rs10801591	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10922165	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10922166	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10922169	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1102176	0.87[AMR][1000 genomes]
rs1115246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1115247	1.00[CEU][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1170878	0.86[EUR][1000 genomes]
rs1170880	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs1170881	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1170882	0.86[EUR][1000 genomes]
rs1170883	0.86[EUR][1000 genomes]
rs12039586	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12092294	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs12677	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12731209	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1332662	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs1332663	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1332669	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1412631	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1412633	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1412634	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1412638	0.87[AMR][1000 genomes]
rs1412639	0.96[EUR][1000 genomes]
rs1415217	0.87[CEU][hapmap]
rs1537319	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1556763	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap]
rs1571964	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes]
rs1576878	0.96[EUR][1000 genomes]
rs1627765	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1759006	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1759007	1.00[EUR][1000 genomes]
rs1759008	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1759009	1.00[EUR][1000 genomes]
rs1759013	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1794003	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1794010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1855116	0.86[EUR][1000 genomes]
rs1888991	0.94[ASW][hapmap];0.87[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1953064	1.00[EUR][1000 genomes]
rs2026429	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2151133	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2151134	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2151135	0.93[EUR][1000 genomes]
rs2336595	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2336597	0.96[EUR][1000 genomes]
rs3891964	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4342879	0.87[CEU][hapmap];0.84[YRI][hapmap];0.81[EUR][1000 genomes]
rs4350226	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs4556392	0.93[EUR][1000 genomes]
rs4915148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4915156	1.00[EUR][1000 genomes]
rs4915313	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4915315	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4915316	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4915327	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4915337	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4915345	0.93[EUR][1000 genomes]
rs4915378	0.83[ASW][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];0.93[MKK][hapmap];0.83[YRI][hapmap]
rs4915379	0.89[ASW][hapmap];0.87[CEU][hapmap];0.95[GIH][hapmap];0.93[TSI][hapmap]
rs5029273	0.84[YRI][hapmap]
rs510135	0.87[CEU][hapmap]
rs518149	0.87[CEU][hapmap]
rs5997	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6003	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs615647	0.87[CEU][hapmap]
rs6428387	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6656448	0.85[CEU][hapmap];0.84[YRI][hapmap]
rs6656858	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6657171	0.86[EUR][1000 genomes]
rs6657246	0.86[EUR][1000 genomes]
rs6671696	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6677082	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.90[EUR][1000 genomes]
rs6679189	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6680497	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6685259	1.00[EUR][1000 genomes]
rs6694672	0.86[EUR][1000 genomes]
rs6694853	0.86[EUR][1000 genomes]
rs6695300	0.93[EUR][1000 genomes]
rs6702340	0.86[EUR][1000 genomes]
rs6703400	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7411719	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7513826	0.87[CEU][hapmap]
rs7516700	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7520503	0.87[CEU][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap]
rs7523013	0.87[CEU][hapmap]
rs7534353	1.00[CEU][hapmap];0.96[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7539642	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7541429	0.91[EUR][1000 genomes]
rs7542397	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7554757	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs857017	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs857020	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs857021	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs857022	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs857023	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs857026	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs857027	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs865071	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs877897	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs928439	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs928440	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs9427660	1.00[CEU][hapmap]
rs9427661	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs9427662	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs9427942	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs9726778	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer 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 miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv2756880	chr1:196709223-197066074	ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	esv2757767	chr1:196977799-197169772	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv873065	chr1:197027749-197076194	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv873067	chr1:197028634-197064496	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197035600-197038000	Enhancers	HepG2	liver
2	chr1:197036600-197037400	Flanking Active TSS	Liver	Liver
3	chr1:197036800-197037600	Enhancers	Fetal Intestine Large	intestine

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