Variant report

Variant	rs2008488
Chromosome Location	chr4:86820208-86820209
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10023559	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10023650	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11944662	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12645494	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13115144	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1473010	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1812330	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1812331	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2175309	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2575685	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs345360	1.00[CHB][hapmap]
rs346468	1.00[CHB][hapmap]
rs346511	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs346512	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs346514	1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs346515	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs346519	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35900112	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4147415	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4599406	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4693750	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6531879	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6531880	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6842979	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7684201	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7685869	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830000	chr4:86745341-86909059	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv879519	chr4:86786204-86871282	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv2753470	chr4:86804078-86844350	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv968779	chr4:86818256-86824356	Strong transcription Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86790800-86835400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:86791200-86844400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:86808200-86846000	Weak transcription	HUVEC	blood vessel
4	chr4:86811200-86822800	Weak transcription	Primary B cells from cord blood	blood
5	chr4:86812200-86825000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr4:86812200-86831200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr4:86812400-86831000	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:86814200-86822000	Weak transcription	NHDF-Ad	bronchial
9	chr4:86815400-86825400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:86815800-86831000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr4:86815800-86842800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:86818000-86831000	Weak transcription	Pancreas	Pancrea
13	chr4:86818400-86820600	Weak transcription	Fetal Kidney	kidney
14	chr4:86818400-86831200	Weak transcription	Right Ventricle	heart
15	chr4:86819800-86820800	Weak transcription	Fetal Lung	lung

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