Variant report

Variant	rs17010651
Chromosome Location	chr2:31292817-31292818
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10178131	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10193546	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13386542	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13392394	0.81[EUR][1000 genomes]
rs13404171	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13407335	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2194463	0.82[JPT][hapmap]
rs2194466	0.96[EUR][1000 genomes]
rs6705710	0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6714508	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6718847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6736355	0.96[EUR][1000 genomes]
rs73921454	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9973423	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31278200-31293000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:31278200-31310800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:31278800-31306800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:31284000-31301800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr2:31286600-31293400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:31287200-31297000	Weak transcription	Aorta	Aorta
7	chr2:31288800-31294400	Weak transcription	Esophagus	oesophagus
8	chr2:31288800-31305000	Weak transcription	Right Atrium	heart
9	chr2:31288800-31308400	Weak transcription	Spleen	Spleen
10	chr2:31290400-31293000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:31290600-31293000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:31291000-31298400	Weak transcription	Brain Germinal Matrix	brain
13	chr2:31292200-31293000	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr2:31292800-31293200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:31292800-31293800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:31292800-31294200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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