Variant report

Variant	rs1482095
Chromosome Location	chr4:86649932-86649933
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	chr4:86636846..86639460-chr4:86646994..86650013,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1031987	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11722392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11731040	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12644984	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12646641	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12647014	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12648692	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12650494	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13112493	0.93[ASN][1000 genomes]
rs13123125	0.86[AMR][1000 genomes]
rs1482091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1482092	0.99[ASN][1000 genomes]
rs17010599	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17010697	0.95[ASN][1000 genomes]
rs17010839	0.87[AMR][1000 genomes]
rs1811576	0.92[AFR][1000 genomes];0.89[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	0.96[ASN][1000 genomes]
rs4455406	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	0.98[ASN][1000 genomes]
rs6531863	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6839040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6853196	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6855390	0.97[ASN][1000 genomes]
rs72656252	0.98[ASN][1000 genomes]
rs72656285	0.93[ASN][1000 genomes]
rs7661884	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7675688	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7682971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7685320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7697134	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86644000-86650200	Enhancers	NHDF-Ad	bronchial
2	chr4:86645000-86650200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:86647000-86653200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:86647000-86655400	Weak transcription	Brain Angular Gyrus	brain
5	chr4:86647200-86653200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:86647200-86658200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr4:86647400-86652400	Weak transcription	Stomach Mucosa	stomach
8	chr4:86647400-86653200	Weak transcription	Fetal Heart	heart
9	chr4:86647600-86652000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:86647600-86653400	Weak transcription	Fetal Lung	lung
11	chr4:86647800-86651000	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:86647800-86653200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr4:86647800-86654600	Weak transcription	Colon Smooth Muscle	Colon
14	chr4:86647800-86655600	Weak transcription	Small Intestine	intestine
15	chr4:86647800-86656600	Weak transcription	Brain Anterior Caudate	brain
16	chr4:86647800-86656600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr4:86647800-86662600	Weak transcription	Left Ventricle	heart
18	chr4:86647800-86662600	Weak transcription	Spleen	Spleen
19	chr4:86648000-86650000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr4:86648000-86650200	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr4:86648000-86652800	Weak transcription	GM12878-XiMat	blood
22	chr4:86648000-86654800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:86648000-86655200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr4:86648200-86654600	Weak transcription	Primary B cells from cord blood	blood
25	chr4:86648400-86650200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr4:86648400-86662600	Weak transcription	Pancreas	Pancrea
27	chr4:86649000-86650600	Weak transcription	Fetal Muscle Leg	muscle
28	chr4:86649000-86650600	Weak transcription	Right Atrium	heart
29	chr4:86649000-86652400	Weak transcription	Primary B cells from peripheral blood	blood
30	chr4:86649000-86654800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr4:86649000-86655200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr4:86649400-86650800	Enhancers	Fetal Kidney	kidney
33	chr4:86649400-86651200	Enhancers	HSMM	muscle
34	chr4:86649600-86650400	Enhancers	Adipose Nuclei	Adipose
35	chr4:86649800-86650800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr4:86649800-86650800	Enhancers	HSMMtube	muscle

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