Variant report

Variant	rs4626139
Chromosome Location	chr3:178711257-178711258
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:178708964..178712566-chr3:178712795..178715192,4	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11711320	0.94[EUR][1000 genomes]
rs11720081	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13072825	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13094954	1.00[ASN][1000 genomes]
rs4245914	0.94[EUR][1000 genomes]
rs4279147	0.94[EUR][1000 genomes]
rs4280676	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4315724	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4337680	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4377525	0.93[EUR][1000 genomes]
rs4395442	0.94[EUR][1000 genomes]
rs4417911	0.94[EUR][1000 genomes]
rs4469018	0.91[EUR][1000 genomes]
rs4501160	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4505756	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4522816	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4525914	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4552405	0.94[EUR][1000 genomes]
rs4579062	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs4607155	0.87[EUR][1000 genomes]
rs4632588	0.81[EUR][1000 genomes]
rs4637331	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs4955796	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4955802	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4955807	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs4955810	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs56115013	0.94[EUR][1000 genomes]
rs56154408	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6443607	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6443611	0.95[ASN][1000 genomes]
rs6443614	0.94[EUR][1000 genomes]
rs6443617	0.80[EUR][1000 genomes]
rs6772028	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs6789706	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6790867	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs6793769	0.94[EUR][1000 genomes]
rs6793893	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs6794956	0.87[EUR][1000 genomes]
rs6795238	0.87[EUR][1000 genomes]
rs6800015	0.89[CEU][hapmap]
rs6804084	0.94[CEU][hapmap]
rs7429173	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7612363	0.94[EUR][1000 genomes]
rs7633318	0.94[CEU][hapmap]
rs7639391	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs7643052	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7651510	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7652668	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7652946	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9846511	0.94[EUR][1000 genomes]
rs9860318	0.91[EUR][1000 genomes]
rs9860749	0.91[EUR][1000 genomes]
rs9879637	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9880749	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998253	chr3:178622707-179196274	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv536814	chr3:178622707-179196274	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv461026	chr3:178661814-178886609	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv592649	chr3:178661814-178886609	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178706400-178718600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr3:178706800-178712800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr3:178707000-178718800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr3:178707400-178711400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr3:178708200-178712800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:178708400-178715000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:178708400-178715000	Weak transcription	Aorta	Aorta
8	chr3:178708400-178718600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:178708600-178726200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr3:178708800-178713000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:178708800-178737800	Weak transcription	Colon Smooth Muscle	Colon
12	chr3:178709000-178713200	Strong transcription	Primary T cells from cord blood	blood
13	chr3:178709200-178724400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:178709400-178711600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:178709400-178713200	Strong transcription	HSMM	muscle
16	chr3:178709400-178714800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:178709400-178721600	Weak transcription	Primary B cells from cord blood	blood
18	chr3:178709600-178724800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:178710000-178715000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr3:178710200-178715000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:178710600-178712600	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr3:178711000-178711800	Enhancers	Fetal Muscle Leg	muscle
23	chr3:178711200-178712400	Strong transcription	HSMMtube	muscle

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