Variant report

Variant	rs6531863
Chromosome Location	chr4:86659597-86659598
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:86657861..86659859-chr4:86661418..86663098,2	K562	blood:
2	chr4:86655699..86658214-chr4:86658665..86660389,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1031987	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11722392	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11731040	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12644984	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12646641	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12647014	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12648692	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12650494	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13112493	0.93[ASN][1000 genomes]
rs13123125	0.80[AMR][1000 genomes]
rs1482091	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1482092	0.99[ASN][1000 genomes]
rs1482095	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17010599	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17010697	0.92[ASN][1000 genomes]
rs17010839	0.82[AMR][1000 genomes]
rs1811576	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2624023	0.99[ASN][1000 genomes]
rs343848	0.96[ASN][1000 genomes]
rs343852	0.97[ASN][1000 genomes]
rs41477846	0.93[ASN][1000 genomes]
rs4455406	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56989679	0.90[ASN][1000 genomes]
rs57065351	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6531862	0.95[ASN][1000 genomes]
rs6839040	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6853196	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6855390	0.97[ASN][1000 genomes]
rs72656252	0.95[ASN][1000 genomes]
rs72656285	0.93[ASN][1000 genomes]
rs7661884	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7675688	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7682971	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7685320	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7697134	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][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	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
6	esv2763373	chr4:86655128-86673695	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86647800-86662600	Weak transcription	Left Ventricle	heart
2	chr4:86647800-86662600	Weak transcription	Spleen	Spleen
3	chr4:86648400-86662600	Weak transcription	Pancreas	Pancrea
4	chr4:86650400-86662400	Weak transcription	Adipose Nuclei	Adipose
5	chr4:86653800-86662200	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:86655000-86664200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:86655400-86660000	Weak transcription	Colon Smooth Muscle	Colon
8	chr4:86655600-86661600	Weak transcription	A549	lung
9	chr4:86656200-86659800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:86656200-86660200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:86656400-86660000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:86656400-86661800	Weak transcription	HSMM	muscle
13	chr4:86656400-86661800	Weak transcription	HUVEC	blood vessel
14	chr4:86656600-86664000	Weak transcription	Hela-S3	cervix
15	chr4:86656800-86659800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:86656800-86660200	Weak transcription	HSMMtube	muscle
17	chr4:86658600-86660200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:86658800-86660000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr4:86658800-86661800	Weak transcription	Brain Anterior Caudate	brain
20	chr4:86658800-86661800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr4:86658800-86664600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:86658800-86665600	Weak transcription	Psoas Muscle	Psoas
23	chr4:86659000-86660000	Weak transcription	Brain Hippocampus Middle	brain
24	chr4:86659000-86660200	Weak transcription	Brain Substantia Nigra	brain
25	chr4:86659000-86661200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr4:86659000-86661800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr4:86659200-86659800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:86659200-86661800	Weak transcription	Primary B cells from cord blood	blood
29	chr4:86659400-86659800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr4:86659400-86662200	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr4:86659400-86664200	Enhancers	NHDF-Ad	bronchial

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