Variant report

Variant	rs1947237
Chromosome Location	chr3:142879468-142879469
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	chr3:142878953..142880947-chr3:142881192..142883078,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10804687	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10935482	0.85[EUR][1000 genomes]
rs11709062	0.92[EUR][1000 genomes]
rs1463216	0.86[EUR][1000 genomes]
rs1947236	0.85[EUR][1000 genomes]
rs34057904	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4234479	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4234480	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4428144	0.83[EUR][1000 genomes]
rs4683752	0.80[ASN][1000 genomes]
rs6772066	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6776371	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1007164	chr3:142837004-142891719	Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv508250	chr3:142842454-142943722	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv963582	chr3:142874090-142881230	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv529013	chr3:142877227-142888043	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142873400-142881400	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr3:142873400-142881800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr3:142877000-142879800	Enhancers	Dnd41	blood
4	chr3:142877400-142881200	Weak transcription	Primary T cells from cord blood	blood
5	chr3:142877800-142884200	Weak transcription	Osteobl	bone
6	chr3:142877800-142886000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr3:142878000-142881600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr3:142878200-142884200	Weak transcription	NHDF-Ad	bronchial
9	chr3:142878800-142880400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr3:142879000-142879600	Enhancers	Fetal Muscle Leg	muscle
11	chr3:142879200-142879600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:142879200-142879600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:142879200-142879600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:142879200-142879600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr3:142879200-142879600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:142879200-142879800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:142879200-142880000	Enhancers	Fetal Thymus	thymus
18	chr3:142879400-142880000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:142879400-142880000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:142879400-142881600	Weak transcription	K562	blood
21	chr3:142879400-142882000	Weak transcription	Fetal Lung	lung
22	chr3:142879400-142882000	Weak transcription	GM12878-XiMat	blood

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