Variant report

Variant	rs6813952
Chromosome Location	chr4:74844432-74844433
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:74695616..74697263-chr4:74842900..74844501,2	K562	blood:
2	chr2:45036779..45037589-chr4:74844017..74844916,2	MCF-7	breast:
3	chr4:74844333..74846999-chr4:74847682..74849224,2	K562	blood:

Variant related genes	Relation type
ENSG00000163737	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10007249	0.84[EUR][1000 genomes]
rs10518117	0.87[CEU][hapmap]
rs11508014	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11574452	0.87[CEU][hapmap]
rs1429637	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1435520	0.87[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs149611	0.81[EUR][1000 genomes]
rs1511815	0.87[CEU][hapmap]
rs1595008	0.84[ASN][1000 genomes]
rs16850360	0.81[TSI][hapmap]
rs1951233	0.87[CEU][hapmap]
rs1957069	0.87[CEU][hapmap]
rs2175498	0.83[ASN][1000 genomes]
rs2195543	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs352036	0.81[EUR][1000 genomes]
rs353028	0.81[EUR][1000 genomes]
rs353029	0.81[EUR][1000 genomes]
rs353031	0.84[EUR][1000 genomes]
rs353034	0.84[EUR][1000 genomes]
rs353039	0.84[EUR][1000 genomes]
rs353040	0.84[EUR][1000 genomes]
rs353042	0.87[CEU][hapmap];0.85[JPT][hapmap]
rs3756074	0.87[CEU][hapmap]
rs4082827	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4694180	0.83[ASN][1000 genomes]
rs4694659	0.83[ASN][1000 genomes]
rs4694660	0.83[ASN][1000 genomes]
rs4694661	0.83[ASN][1000 genomes]
rs499141	0.84[EUR][1000 genomes]
rs529312	0.84[EUR][1000 genomes]
rs57274239	0.81[EUR][1000 genomes]
rs585778	0.84[EUR][1000 genomes]
rs629315	0.84[EUR][1000 genomes]
rs6446973	0.83[ASN][1000 genomes]
rs6810940	0.83[ASN][1000 genomes]
rs72855280	1.00[ASN][1000 genomes]
rs7666671	0.84[EUR][1000 genomes]
rs938094	0.81[EUR][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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv1006029	chr4:74793922-74986664	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr4:74810200-74844600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:74837000-74850800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:74842000-74845600	Enhancers	Osteobl	bone
4	chr4:74842200-74845600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:74842200-74845600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:74842200-74847200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr4:74842200-74847200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:74842400-74845800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:74842400-74845800	Enhancers	NH-A	brain
10	chr4:74842600-74844800	Weak transcription	Gastric	stomach
11	chr4:74842600-74844800	Weak transcription	HSMMtube	muscle
12	chr4:74842600-74846200	Enhancers	HSMM	muscle
13	chr4:74842800-74845000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:74843600-74844800	Weak transcription	K562	blood
15	chr4:74843600-74847400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:74843800-74845200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:74843800-74846800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:74843800-74847400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:74844000-74845200	Enhancers	NHDF-Ad	bronchial
20	chr4:74844000-74845600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:74844000-74845600	Enhancers	A549	lung
22	chr4:74844200-74844600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr4:74844200-74844800	Active TSS	NHLF	lung
24	chr4:74844200-74845400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:74844200-74845600	Enhancers	HMEC	breast
26	chr4:74844400-74845600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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