Variant report

Variant	rs6534325
Chromosome Location	chr4:122711635-122711636
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	chr4:122703955..122708206-chr4:122710788..122713882,5	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10002280	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10024445	0.92[ASN][1000 genomes]
rs10857086	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11098647	0.98[ASN][1000 genomes]
rs11726779	0.92[ASN][1000 genomes]
rs11732582	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12499222	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs28665553	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4240261	0.83[CEU][hapmap]
rs4370153	0.80[CEU][hapmap]
rs4496602	0.87[CEU][hapmap]
rs4519820	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4629472	0.86[CEU][hapmap]
rs4833774	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6534321	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6815050	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6819870	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6823686	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6830128	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6835864	0.94[ASN][1000 genomes]
rs6836290	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7661641	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7672640	0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[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	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv461635	chr4:122633535-122720999	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv595357	chr4:122633535-122720999	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122706800-122713200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr4:122706800-122713200	Enhancers	NHDF-Ad	bronchial
3	chr4:122708800-122713000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:122708800-122713600	Enhancers	Osteobl	bone
5	chr4:122709000-122713600	Enhancers	HSMM	muscle
6	chr4:122709200-122713000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:122709400-122711800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:122709400-122713600	Enhancers	NH-A	brain
9	chr4:122709600-122713000	Enhancers	NHLF	lung
10	chr4:122710200-122712000	Enhancers	NHEK	skin
11	chr4:122710400-122712800	Enhancers	Hela-S3	cervix
12	chr4:122710600-122711800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:122710600-122711800	Enhancers	HMEC	breast
14	chr4:122710600-122712000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:122711000-122713200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:122711000-122715800	Weak transcription	GM12878-XiMat	blood
17	chr4:122711200-122711800	Enhancers	K562	blood
18	chr4:122711200-122712800	Enhancers	Fetal Heart	heart
19	chr4:122711200-122713200	Enhancers	HSMMtube	muscle
20	chr4:122711200-122713600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr4:122711400-122712200	Enhancers	A549	lung
22	chr4:122711400-122712800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:122711600-122711800	Enhancers	Fetal Stomach	stomach
24	chr4:122711600-122712400	Enhancers	HUVEC	blood vessel
25	chr4:122711600-122713400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:122711600-122713800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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