Variant report

Variant	rs12643593
Chromosome Location	chr4:20984833-20984834
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10516368	1.00[JPT][hapmap]
rs10516372	1.00[JPT][hapmap]
rs10516373	1.00[JPT][hapmap]
rs10938820	1.00[JPT][hapmap]
rs11735132	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11737267	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11931507	1.00[JPT][hapmap]
rs11946257	1.00[JPT][hapmap]
rs12639782	1.00[JPT][hapmap]
rs12640610	0.88[CHB][hapmap];0.85[AMR][1000 genomes]
rs12642219	1.00[JPT][hapmap]
rs12645600	1.00[JPT][hapmap]
rs12647136	1.00[JPT][hapmap]
rs12647761	1.00[JPT][hapmap]
rs12648562	1.00[JPT][hapmap]
rs12649754	1.00[JPT][hapmap]
rs12650301	1.00[JPT][hapmap]
rs12650955	1.00[JPT][hapmap]
rs13143622	1.00[JPT][hapmap]
rs1434954	1.00[JPT][hapmap]
rs1434955	1.00[JPT][hapmap]
rs1491371	1.00[JPT][hapmap]
rs16870186	1.00[JPT][hapmap]
rs16870225	1.00[JPT][hapmap]
rs16870226	1.00[JPT][hapmap]
rs16870239	1.00[JPT][hapmap]
rs16870246	1.00[JPT][hapmap]
rs1988092	1.00[JPT][hapmap]
rs41389548	1.00[JPT][hapmap]
rs4235287	1.00[JPT][hapmap]
rs4499695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56271214	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6834010	1.00[JPT][hapmap]
rs6834492	1.00[JPT][hapmap]
rs6836818	1.00[JPT][hapmap]
rs6856054	1.00[JPT][hapmap]
rs7340882	1.00[JPT][hapmap]
rs7660907	1.00[JPT][hapmap]
rs7675477	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7676308	1.00[JPT][hapmap]
rs7676475	1.00[JPT][hapmap]
rs7678620	1.00[JPT][hapmap]
rs920019	1.00[CHB][hapmap]

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	nsv1010145	chr4:20601908-21057992	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv537052	chr4:20601908-21057992	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1014941	chr4:20611726-21345226	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv537053	chr4:20611726-21345226	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv1013365	chr4:20834054-21609078	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv829877	chr4:20847465-20992544	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv829878	chr4:20966047-21138626	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	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	chr4:20984800-20985400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
2	chr4:20984800-20986200	Active TSS	Rectal Smooth Muscle	rectum
3	chr4:20984800-20986400	Active TSS	Duodenum Smooth Muscle	Duodenum

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