Variant report

Variant	rs11229612
Chromosome Location	chr11:58530198-58530199
allele	G/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	chr11:58529968-58530627	HepG2	liver:	n/a	n/a
2	TCF7L2	chr11:58530096-58530923	HepG2	liver:	n/a	n/a
3	NFIC	chr11:58529983-58530885	HepG2	liver:	n/a	n/a
4	MYBL2	chr11:58530024-58530575	HepG2	liver:	n/a	n/a
5	RCOR1	chr11:58529989-58530484	HepG2	liver:	n/a	n/a
6	TEAD4	chr11:58529842-58530690	HepG2	liver:	n/a	n/a
7	NFIC	chr11:58530045-58530528	HepG2	liver:	n/a	n/a
8	EP300	chr11:58529730-58530681	HepG2	liver:	n/a	n/a
9	FOXA1	chr11:58529650-58530584	HepG2	liver:	n/a	n/a
10	CEBPB	chr11:58530168-58530635	HepG2	liver:	n/a	n/a
11	FOXA1	chr11:58529665-58530703	HepG2	liver:	n/a	n/a
12	HNF4A	chr11:58530015-58530512	HepG2	liver:	n/a	chr11:58530326-58530341
13	HEY1	chr11:58529984-58530210	HepG2	liver:	n/a	n/a
14	ARID3A	chr11:58529753-58530625	HepG2	liver:	n/a	chr11:58530557-58530573 chr11:58530596-58530612
15	FOXA1	chr11:58529731-58530767	HepG2	liver:	n/a	n/a
16	HNF4A	chr11:58529802-58530581	HepG2	liver:	n/a	chr11:58530326-58530341
17	MBD4	chr11:58530055-58530585	HepG2	liver:	n/a	n/a
18	RXRA	chr11:58530121-58530507	HepG2	liver:	n/a	n/a
19	MAFK	chr11:58529949-58530469	HepG2	liver:	n/a	n/a
20	SP1	chr11:58529765-58530618	HepG2	liver:	n/a	n/a
21	FOXA1	chr11:58529724-58530528	HepG2	liver:	n/a	n/a
22	HNF4A	chr11:58530079-58530558	HepG2	liver:	n/a	chr11:58530326-58530341
23	HNF4G	chr11:58530117-58530568	HepG2	liver:	n/a	chr11:58530327-58530342
24	EP300	chr11:58530016-58530524	HepG2	liver:	n/a	n/a
25	TCF12	chr11:58530178-58530433	HepG2	liver:	n/a	n/a
26	FOXA2	chr11:58529040-58530816	HepG2	liver:	n/a	chr11:58529329-58529341
27	MAZ	chr11:58530161-58530586	HepG2	liver:	n/a	n/a
28	FOXA2	chr11:58529770-58530560	HepG2	liver:	n/a	n/a
29	EP300	chr11:58530024-58530652	HepG2	liver:	n/a	n/a
30	MYBL2	chr11:58529718-58530803	HepG2	liver:	n/a	n/a
31	HNF4G	chr11:58530006-58530579	HepG2	liver:	n/a	chr11:58530327-58530342
32	HDAC2	chr11:58529804-58530578	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000254926	TF binding region

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

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10896818	0.86[ASN][1000 genomes]
rs10896820	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10896822	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11229578	0.85[ASN][1000 genomes]
rs11229593	0.85[ASN][1000 genomes]
rs11229594	0.85[ASN][1000 genomes]
rs11229595	0.86[ASN][1000 genomes]
rs11229596	0.84[ASN][1000 genomes]
rs11229597	0.85[ASN][1000 genomes]
rs11229601	0.86[ASN][1000 genomes]
rs11229602	0.86[ASN][1000 genomes]
rs11229603	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11229613	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229617	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11229618	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11229620	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11229623	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11229652	0.85[AMR][1000 genomes]
rs11229662	0.83[AMR][1000 genomes]
rs11530801	0.84[ASN][1000 genomes]
rs12222236	0.85[AMR][1000 genomes]
rs12226395	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12417075	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420969	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12421060	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17152916	0.86[ASN][1000 genomes]
rs1938695	0.85[ASN][1000 genomes]
rs1938696	0.85[ASN][1000 genomes]
rs1938707	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1938713	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938717	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1938730	0.85[ASN][1000 genomes]
rs1941965	0.85[ASN][1000 genomes]
rs1943267	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1943268	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1943271	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1943277	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1943285	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1943305	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1954965	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2105743	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2186414	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35649133	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3920943	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4373954	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4418828	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55906811	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56000500	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56073415	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56699801	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57121352	0.85[ASN][1000 genomes]
rs60850183	0.83[AMR][1000 genomes]
rs72925740	0.85[ASN][1000 genomes]
rs72925778	0.86[ASN][1000 genomes]
rs72927728	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72927767	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72929757	0.83[AMR][1000 genomes]
rs7951340	0.86[ASN][1000 genomes]
rs9943655	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832168	chr11:58394060-58564651	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58529800-58530600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:58529800-58530600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr11:58529800-58530600	Flanking Active TSS	Liver	Liver
4	chr11:58529800-58530800	Flanking Active TSS	HepG2	liver
5	chr11:58529800-58531000	Enhancers	Fetal Kidney	kidney
6	chr11:58529800-58531000	Enhancers	Pancreas	Pancrea
7	chr11:58529800-58531200	Enhancers	Fetal Intestine Large	intestine
8	chr11:58530000-58530400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:58530000-58531200	Enhancers	Fetal Intestine Small	intestine

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