Variant report

Variant	rs10067991
Chromosome Location	chr5:5033469-5033470
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:5021569..5024371-chr5:5031180..5034159,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10056566	1.00[CEU][hapmap]
rs10512763	1.00[CEU][hapmap]
rs11951905	1.00[CEU][hapmap]
rs16874638	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap]
rs16874650	1.00[CEU][hapmap]
rs171607	1.00[CEU][hapmap]
rs173625	0.96[EUR][1000 genomes]
rs249449	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs249451	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs249454	1.00[CEU][hapmap]
rs249456	1.00[CEU][hapmap]
rs249463	0.96[EUR][1000 genomes]
rs249464	0.96[EUR][1000 genomes]
rs249465	0.96[EUR][1000 genomes]
rs249468	0.96[EUR][1000 genomes]
rs249469	0.96[EUR][1000 genomes]
rs249474	0.92[EUR][1000 genomes]
rs30484	0.96[EUR][1000 genomes]
rs419611	0.96[EUR][1000 genomes]
rs457382	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs464252	0.96[EUR][1000 genomes]
rs465434	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021653	chr5:4932992-5201887	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2757980	chr5:4980876-5184615	Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2759318	chr5:4980876-5184615	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS 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	17 gene(s)	inside rSNPs	diseases
5	nsv880436	chr5:4982643-5038540	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv830194	chr5:5002459-5187667	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5033200-5033800	Enhancers	Adipose Nuclei	Adipose
2	chr5:5033200-5034000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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