Variant report

Variant	rs62296941
Chromosome Location	chr4:69959112-69959113
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	RCOR1	chr4:69959096-69959221	GM12878	blood:	n/a	n/a
2	YY1	chr4:69958865-69959214	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
UGT2B7	TF binding region

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10025070	0.87[ASN][1000 genomes]
rs10033045	0.87[ASN][1000 genomes]
rs11931604	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11932983	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11933432	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11937195	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11945620	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11945705	0.87[ASN][1000 genomes]
rs11946976	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12499192	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12503622	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12506592	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12507173	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12507556	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12508596	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13136922	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1841052	0.90[ASN][1000 genomes]
rs2125307	0.93[ASN][1000 genomes]
rs28365062	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34545777	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34561399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4259121	0.87[ASN][1000 genomes]
rs4343788	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4348159	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4418041	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4434329	0.87[ASN][1000 genomes]
rs4554146	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4694152	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4694550	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4694606	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55831171	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55905314	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56943005	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57468707	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58965335	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59314351	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59732068	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60276248	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62296919	0.87[ASN][1000 genomes]
rs62296937	0.84[EUR][1000 genomes]
rs62296959	0.87[EUR][1000 genomes]
rs62298861	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62298872	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62298898	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs66698711	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72642938	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72642947	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72642961	0.87[ASN][1000 genomes]
rs7435335	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7680341	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9991142	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999654	chr4:69661415-70132110	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv3420586	chr4:69680878-70322918	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	nsv1067773	chr4:69718248-70715727	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription 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	49 gene(s)	inside rSNPs	diseases
4	esv3468151	chr4:69718675-70322776	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	esv3468153	chr4:69718675-70322776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv594582	chr4:69827340-69988378	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv879379	chr4:69878929-69987249	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv594583	chr4:69928642-69988378	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv427683	chr4:69929701-70414172	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	nsv522091	chr4:69932587-69988378	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv999858	chr4:69933262-70676525	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	nsv1000261	chr4:69954600-70642254	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
13	nsv537134	chr4:69954600-70642254	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69955600-69959400	Weak transcription	HepG2	liver
2	chr4:69957400-69959600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:69957400-69960000	Enhancers	NHEK	skin
4	chr4:69957600-69959800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:69958000-69959200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:69958000-69960800	Weak transcription	HUVEC	blood vessel
7	chr4:69958200-69961000	Weak transcription	HMEC	breast
8	chr4:69958400-69961800	Weak transcription	Osteobl	bone
9	chr4:69958600-69959400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:69958600-69959400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:69958800-69959400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:69958800-69959400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:69958800-69959400	Enhancers	Esophagus	oesophagus
14	chr4:69958800-69959600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr4:69958800-69959600	Enhancers	NH-A	brain
16	chr4:69959000-69959600	ZNF genes & repeats	Fetal Intestine Small	intestine

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