Variant report

Variant	rs17010520
Chromosome Location	chr2:31187412-31187413
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:31181795..31184634-chr2:31186391..31188271,2	K562	blood:
2	chr2:31170954..31172931-chr2:31187011..31188814,2	MCF-7	breast:
3	chr2:31181392..31183978-chr2:31186422..31189060,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13413867	1.00[EUR][1000 genomes]
rs1520320	1.00[EUR][1000 genomes]
rs17010291	1.00[EUR][1000 genomes]
rs17010400	1.00[EUR][1000 genomes]
rs17010721	1.00[MEX][hapmap]
rs2364443	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs61192561	1.00[EUR][1000 genomes]
rs72867186	1.00[EUR][1000 genomes]
rs73921200	1.00[EUR][1000 genomes]
rs73921202	1.00[EUR][1000 genomes]
rs73923305	1.00[EUR][1000 genomes]
rs73923309	1.00[EUR][1000 genomes]
rs7564445	1.00[MEX][hapmap]

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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31122800-31191400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:31147600-31213000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:31152400-31191600	Weak transcription	HMEC	breast
4	chr2:31156000-31221400	Weak transcription	Pancreas	Pancrea
5	chr2:31172000-31191200	Weak transcription	A549	lung
6	chr2:31180400-31188000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:31181200-31187600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:31181600-31202200	Weak transcription	NHEK	skin
9	chr2:31182200-31191200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:31182200-31196800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:31183200-31197600	Weak transcription	Fetal Brain Female	brain
12	chr2:31184000-31194200	Weak transcription	Fetal Brain Male	brain
13	chr2:31184400-31189200	Weak transcription	Brain Germinal Matrix	brain
14	chr2:31185400-31189200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:31186200-31189600	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr2:31186200-31190400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:31187000-31188800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:31187200-31187600	Weak transcription	Spleen	Spleen
19	chr2:31187200-31187800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:31187200-31188000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:31187200-31188200	Strong transcription	Esophagus	oesophagus
22	chr2:31187400-31189600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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