Variant report

Variant	rs1031987
Chromosome Location	chr4:86639541-86639542
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11722392	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11731040	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12644984	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12646641	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12647014	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12648692	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12650494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13112493	0.88[ASN][1000 genomes]
rs1482091	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1482092	0.93[ASN][1000 genomes]
rs1482095	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17010599	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17010697	1.00[ASN][1000 genomes]
rs17010839	0.81[AMR][1000 genomes]
rs1811576	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2624023	0.93[ASN][1000 genomes]
rs343848	0.91[ASN][1000 genomes]
rs343852	0.92[ASN][1000 genomes]
rs41477846	0.99[ASN][1000 genomes]
rs4455406	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56989679	0.85[ASN][1000 genomes]
rs57065351	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6531862	0.97[ASN][1000 genomes]
rs6531863	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6839040	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6853196	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6855390	0.92[ASN][1000 genomes]
rs72656252	0.97[ASN][1000 genomes]
rs72656285	0.88[ASN][1000 genomes]
rs7661884	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7675688	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7682971	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7685320	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7697134	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv829999	chr4:86500257-86666019	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86632000-86647000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:86633600-86644800	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:86636200-86639800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:86636600-86643600	Enhancers	NHDF-Ad	bronchial
5	chr4:86637800-86641400	Weak transcription	HSMM	muscle
6	chr4:86637800-86641600	Weak transcription	A549	lung
7	chr4:86638000-86639600	Enhancers	Fetal Lung	lung
8	chr4:86638000-86646600	Weak transcription	Small Intestine	intestine
9	chr4:86638200-86646600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:86638600-86639600	Enhancers	NHLF	lung
11	chr4:86638600-86641600	Weak transcription	HSMMtube	muscle
12	chr4:86638800-86639600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:86638800-86641400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:86638800-86642000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr4:86638800-86643400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr4:86638800-86643600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr4:86639000-86643000	Weak transcription	Primary B cells from cord blood	blood
18	chr4:86639000-86644800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr4:86639200-86640400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:86639200-86641600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:86639200-86641600	Weak transcription	Fetal Heart	heart
22	chr4:86639400-86641600	Weak transcription	NHEK	skin
23	chr4:86639400-86645400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr4:86639400-86646800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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