Variant report

Variant	rs4839604
Chromosome Location	chr3:142960273-142960274
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	chr3:142926220..142927861-chr3:142959735..142962076,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10470450	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13317029	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4553947	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4602353	0.85[EUR][1000 genomes]
rs60818974	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62279677	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6775385	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6785254	0.80[EUR][1000 genomes]
rs73006209	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7627757	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7631070	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs894180	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9829667	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9842703	0.94[CEU][hapmap]
rs9849247	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs985247	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9862637	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9879103	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs990739	0.80[EUR][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	esv2757893	chr3:142720230-142962932	Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2759183	chr3:142720230-142964373	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv34280	chr3:142887460-142962075	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv818171	chr3:142894411-142960273	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2757014	chr3:142905661-142964373	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142954800-142962000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr3:142955200-142972000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:142956400-142964600	Weak transcription	K562	blood
4	chr3:142956600-142966000	Weak transcription	Fetal Kidney	kidney
5	chr3:142957000-142961800	Enhancers	HUVEC	blood vessel
6	chr3:142957800-142965800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:142958400-142960600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:142958600-142960800	Weak transcription	Placenta	Placenta
9	chr3:142958800-142961000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:142959000-142962200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:142959200-142960400	Enhancers	Primary T cells from cord blood	blood
12	chr3:142959400-142961400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:142959400-142961600	Enhancers	NHDF-Ad	bronchial
14	chr3:142959400-142964200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr3:142959600-142961000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:142959600-142961800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr3:142959600-142962200	Enhancers	HSMMtube	muscle
18	chr3:142959800-142961200	Enhancers	Fetal Lung	lung
19	chr3:142959800-142961600	Enhancers	Ovary	ovary
20	chr3:142959800-142962000	Enhancers	Fetal Stomach	stomach
21	chr3:142960000-142960800	Enhancers	Osteobl	bone
22	chr3:142960000-142962000	Enhancers	HSMM	muscle
23	chr3:142960200-142960400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:142960200-142961000	Enhancers	Aorta	Aorta
25	chr3:142960200-142961800	Enhancers	NH-A	brain
26	chr3:142960200-142962000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:142960200-142963000	Weak transcription	Fetal Thymus	thymus

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