Variant report

Variant	rs71446728
Chromosome Location	chr12:20961501-20961502
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	NR2F2	chr12:20961468-20961890	HepG2	liver:	n/a	n/a
2	TCF7L2	chr12:20961335-20961995	HepG2	liver:	n/a	n/a
3	NFIC	chr12:20961377-20962029	HepG2	liver:	n/a	n/a
4	FOXA1	chr12:20961459-20961998	HepG2	liver:	n/a	n/a
5	CEBPB	chr12:20961462-20961896	HepG2	liver:	n/a	chr12:20961744-20961757
6	NR2F2	chr12:20961440-20962012	HepG2	liver:	n/a	n/a
7	CEBPB	chr12:20961440-20961862	HepG2	liver:	n/a	chr12:20961744-20961757
8	FOXA2	chr12:20961397-20961913	HepG2	liver:	n/a	n/a
9	FOXA2	chr12:20961309-20962079	HepG2	liver:	n/a	n/a
10	TEAD4	chr12:20961380-20962096	HepG2	liver:	n/a	n/a
11	POLR2A	chr12:20961481-20962017	HUVEC	blood vessel:	n/a	n/a
12	ARID3A	chr12:20961418-20961995	HepG2	liver:	n/a	n/a
13	FOXA1	chr12:20961452-20961958	HepG2	liver:	n/a	n/a
14	NFIC	chr12:20961430-20961923	HepG2	liver:	n/a	n/a
15	MYBL2	chr12:20961445-20961978	HepG2	liver:	n/a	n/a
16	EP300	chr12:20961404-20961889	HepG2	liver:	n/a	chr12:20961742-20961756
17	FOXA1	chr12:20961321-20961979	HepG2	liver:	n/a	n/a
18	FOXA1	chr12:20961392-20961875	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
SLCO1B3	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10841650	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10841652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10841654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10841660	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11045510	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045511	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045512	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045513	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045514	0.89[ASN][1000 genomes]
rs11045515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045517	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045531	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11045540	0.93[EUR][1000 genomes]
rs11045541	0.84[EUR][1000 genomes]
rs11608908	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11611945	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11611994	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11612020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612051	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614106	0.89[ASN][1000 genomes]
rs12810377	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12812137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12815346	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12816821	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12818051	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12820092	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12822246	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12824927	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12825751	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12829169	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12831149	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17674085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34274711	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34303444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34873412	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34890245	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34911114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34934875	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35069963	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35431286	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36124215	0.89[EUR][1000 genomes]
rs59312184	0.89[ASN][1000 genomes]
rs71436838	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71446727	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs71446729	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7310629	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043890	chr12:20659151-21309993	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv541410	chr12:20659151-21309993	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1054997	chr12:20682009-21292602	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv17347	chr12:20892854-21029179	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv1051454	chr12:20893994-20999635	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1040033	chr12:20914439-21078855	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv869995	chr12:20929531-21081863	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv2758297	chr12:20942215-21117820	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv2759882	chr12:20942215-21117820	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv427905	chr12:20942215-21117820	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv428275	chr12:20942215-21117820	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv898859	chr12:20950737-21082276	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20957800-20962400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:20960800-20961800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr12:20960800-20962400	Enhancers	Primary hematopoietic stem cells	blood
4	chr12:20961200-20962000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:20961200-20962000	Strong transcription	A549	lung
6	chr12:20961400-20961800	Enhancers	Fetal Kidney	kidney
7	chr12:20961400-20962200	Flanking Active TSS	Liver	Liver
8	chr12:20961400-20962400	Enhancers	HepG2	liver

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