Variant report

Variant	rs4343717
Chromosome Location	chr4:86639542-86639543
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10004914	1.00[AMR][1000 genomes]
rs10017673	1.00[AMR][1000 genomes]
rs10018270	1.00[AMR][1000 genomes]
rs10024305	1.00[AMR][1000 genomes]
rs11097067	1.00[AMR][1000 genomes]
rs11941635	1.00[AMR][1000 genomes]
rs13110649	1.00[AMR][1000 genomes]
rs1482086	1.00[AMR][1000 genomes]
rs189357	1.00[AMR][1000 genomes]
rs28384086	1.00[AMR][1000 genomes]
rs28397866	1.00[AMR][1000 genomes]
rs28421282	1.00[AMR][1000 genomes]
rs28481580	1.00[AMR][1000 genomes]
rs28482943	1.00[AMR][1000 genomes]
rs28503231	1.00[AMR][1000 genomes]
rs28510473	1.00[AMR][1000 genomes]
rs28528165	1.00[AMR][1000 genomes]
rs28582783	1.00[AMR][1000 genomes]
rs28625743	1.00[AMR][1000 genomes]
rs28646131	1.00[AMR][1000 genomes]
rs28655099	1.00[AMR][1000 genomes]
rs28809183	1.00[AMR][1000 genomes]
rs28843174	1.00[AMR][1000 genomes]
rs343857	1.00[AMR][1000 genomes]
rs343858	1.00[AMR][1000 genomes]
rs343861	1.00[AMR][1000 genomes]
rs343862	1.00[AMR][1000 genomes]
rs343863	1.00[AMR][1000 genomes]
rs343865	1.00[AMR][1000 genomes]
rs4315779	1.00[AMR][1000 genomes]
rs4362811	1.00[AMR][1000 genomes]
rs4693125	1.00[AMR][1000 genomes]
rs6531853	1.00[AMR][1000 genomes]
rs6531855	1.00[AMR][1000 genomes]
rs6531857	1.00[AMR][1000 genomes]
rs6531858	1.00[AMR][1000 genomes]
rs6531859	1.00[AMR][1000 genomes]
rs6531860	1.00[AMR][1000 genomes]
rs6829248	1.00[AMR][1000 genomes]
rs7376882	1.00[AMR][1000 genomes]
rs7659017	1.00[AMR][1000 genomes]
rs7674538	1.00[AMR][1000 genomes]
rs7682809	1.00[AMR][1000 genomes]
rs9999508	1.00[AMR][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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