Variant report

Variant	rs17010518
Chromosome Location	chr2:31186016-31186017
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10153602	1.00[EUR][1000 genomes]
rs10188172	1.00[EUR][1000 genomes]
rs17010606	1.00[AMR][1000 genomes]
rs2216828	1.00[AMR][1000 genomes]
rs731325	1.00[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:23 , 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	chr2:31169400-31186600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:31172000-31191200	Weak transcription	A549	lung
7	chr2:31180000-31187000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:31180400-31188000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:31180600-31187200	Weak transcription	Esophagus	oesophagus
10	chr2:31181000-31186200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:31181200-31187600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:31181600-31202200	Weak transcription	NHEK	skin
13	chr2:31182200-31187000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:31182200-31191200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:31182200-31196800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:31183200-31197600	Weak transcription	Fetal Brain Female	brain
17	chr2:31184000-31194200	Weak transcription	Fetal Brain Male	brain
18	chr2:31184400-31189200	Weak transcription	Brain Germinal Matrix	brain
19	chr2:31185200-31186400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr2:31185200-31186400	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr2:31185200-31187200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:31185400-31189200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:31185800-31186400	Bivalent Enhancer	Fetal Stomach	stomach

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