Variant report

Variant	rs17010640
Chromosome Location	chr2:31289815-31289816
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	chr2:31232134..31235132-chr2:31287192..31290042,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10490520	1.00[CEU][hapmap]
rs11686479	1.00[CEU][hapmap];0.87[JPT][hapmap];0.82[EUR][1000 genomes]
rs17010645	1.00[CEU][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17010685	1.00[CEU][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes]
rs17010691	1.00[CEU][hapmap]
rs2113491	1.00[CEU][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs2365194	0.82[EUR][1000 genomes]
rs4362605	1.00[CEU][hapmap];0.83[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4951964	1.00[CEU][hapmap];0.87[JPT][hapmap];0.82[EUR][1000 genomes]
rs4952048	1.00[CEU][hapmap];0.82[JPT][hapmap];0.88[EUR][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:21 , 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	chr2:31281000-31290000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:31283200-31292200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:31284000-31301800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:31286600-31293400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:31287200-31297000	Weak transcription	Aorta	Aorta
9	chr2:31288400-31290600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:31288800-31294400	Weak transcription	Esophagus	oesophagus
11	chr2:31288800-31305000	Weak transcription	Right Atrium	heart
12	chr2:31288800-31308400	Weak transcription	Spleen	Spleen
13	chr2:31289000-31290400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:31289400-31290000	Flanking Active TSS	Brain Germinal Matrix	brain
15	chr2:31289400-31290200	Enhancers	Fetal Brain Male	brain
16	chr2:31289400-31290400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:31289600-31290200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:31289600-31290400	Enhancers	Brain Cingulate Gyrus	brain
19	chr2:31289600-31290400	Enhancers	Brain Hippocampus Middle	brain
20	chr2:31289800-31290400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr2:31289800-31290400	Enhancers	Fetal Brain Female	brain

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