Variant report

Variant	rs646315
Chromosome Location	chr3:138842704-138842705
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1105251	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2030471	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs657668	0.84[GIH][hapmap]
rs661149	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs673174	0.82[ASN][1000 genomes]
rs6790703	0.95[ASN][1000 genomes]
rs939646	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs940187	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs940188	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs940189	1.00[CHD][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs940191	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.89[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868955	chr3:138248190-138848947	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv829736	chr3:138737352-138934758	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138835800-138843200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr3:138836200-138843400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:138836600-138843400	Enhancers	HSMM	muscle
4	chr3:138836600-138846800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:138838200-138843000	Enhancers	Primary hematopoietic stem cells	blood
6	chr3:138838600-138842800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:138839400-138849200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:138839800-138843000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr3:138839800-138843000	Weak transcription	Spleen	Spleen
10	chr3:138839800-138843400	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr3:138839800-138843600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:138839800-138847200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr3:138841600-138845800	Weak transcription	Osteobl	bone
14	chr3:138841800-138849000	Weak transcription	Pancreas	Pancrea
15	chr3:138842200-138842800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:138842200-138845800	Weak transcription	K562	blood
17	chr3:138842400-138842800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:138842600-138843000	Flanking Active TSS	NHDF-Ad	bronchial

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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