Variant report

Variant	rs2163718
Chromosome Location	chr12:105713590-105713591
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105712887..105714905-chr12:105718530..105720792,2	MCF-7	breast:
2	chr12:105713189..105714168-chr12:105776809..105777553,3	MCF-7	breast:
3	chr12:105711659..105713820-chr12:105714084..105716843,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11112465	0.90[ASN][1000 genomes]
rs11112468	0.90[ASN][1000 genomes]
rs35561158	0.90[ASN][1000 genomes]
rs57492262	1.00[AMR][1000 genomes]
rs57907498	1.00[AMR][1000 genomes]
rs61005937	1.00[AMR][1000 genomes]
rs61622412	1.00[AMR][1000 genomes]
rs7300017	1.00[AMR][1000 genomes]
rs7303242	0.90[ASN][1000 genomes]
rs7303307	0.90[ASN][1000 genomes]
rs7305498	1.00[AMR][1000 genomes]
rs7313109	1.00[AMR][1000 genomes]
rs7342398	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7488321	1.00[AMR][1000 genomes]
rs7972400	0.90[ASN][1000 genomes]
rs7972676	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv510589	chr12:105670071-105743755	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv516472	chr12:105712603-105717598	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105706400-105715000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr12:105709400-105717200	Enhancers	Fetal Intestine Small	intestine
3	chr12:105709800-105713800	Weak transcription	Primary T cells from cord blood	blood
4	chr12:105709800-105714600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:105710000-105713600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr12:105710000-105715000	Weak transcription	Lung	lung
7	chr12:105710600-105716200	Enhancers	Stomach Mucosa	stomach
8	chr12:105711000-105716800	Enhancers	Liver	Liver
9	chr12:105711600-105713600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:105711600-105716600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:105711800-105715400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:105712000-105716600	Enhancers	NHDF-Ad	bronchial
13	chr12:105712200-105715400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:105712200-105715800	Weak transcription	HSMMtube	muscle
15	chr12:105712200-105716800	Enhancers	Fetal Intestine Large	intestine
16	chr12:105712400-105714000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:105712400-105715800	Weak transcription	HSMM	muscle
18	chr12:105712400-105720000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:105712600-105713800	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr12:105712600-105714000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:105712600-105714000	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr12:105712600-105714600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:105712600-105715200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr12:105712600-105715600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr12:105712600-105715600	Enhancers	HepG2	liver
26	chr12:105712600-105715600	Weak transcription	Osteobl	bone
27	chr12:105712600-105716400	Enhancers	A549	lung
28	chr12:105712600-105717800	Weak transcription	NHLF	lung
29	chr12:105712800-105719000	Weak transcription	NH-A	brain
30	chr12:105713000-105715600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:105713000-105716000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr12:105713200-105714200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:105713200-105714200	Enhancers	Gastric	stomach
34	chr12:105713400-105713600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr12:105713400-105713800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr12:105713400-105715400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:105713400-105724000	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links