Variant report

Variant	rs10176811
Chromosome Location	chr2:20331486-20331487
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20248673..20250285-chr2:20331318..20334095,2	K562	blood:
2	chr2:20329032..20331915-chr2:20335666..20338081,2	K562	blood:
3	chr2:20329242..20332304-chr2:20334345..20337488,3	MCF-7	breast:
4	chr2:20320341..20322786-chr2:20329123..20332598,3	MCF-7	breast:
5	chr2:20329860..20331531-chr2:20418864..20420895,2	MCF-7	breast:
6	chr2:20329969..20331497-chr2:20335447..20338002,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10204427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13382254	1.00[AMR][1000 genomes]
rs13383365	1.00[AMR][1000 genomes]
rs13429680	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2002089	1.00[EUR][1000 genomes]
rs6531226	1.00[EUR][1000 genomes]
rs9430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009521	chr2:20310479-20388959	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1012841	chr2:20328894-20415168	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20326400-20334800	Weak transcription	Esophagus	oesophagus
2	chr2:20326400-20336800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:20327600-20332000	Enhancers	Fetal Intestine Small	intestine
4	chr2:20328000-20332200	Enhancers	Fetal Intestine Large	intestine
5	chr2:20328200-20331600	Enhancers	Colonic Mucosa	Colon
6	chr2:20328600-20331800	Enhancers	Duodenum Mucosa	Duodenum
7	chr2:20329800-20333600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr2:20330400-20331600	Enhancers	HMEC	breast
9	chr2:20330400-20331800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:20330400-20332800	Weak transcription	Fetal Kidney	kidney
11	chr2:20330600-20331800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:20330600-20331800	Enhancers	NH-A	brain
13	chr2:20330800-20331600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:20330800-20331600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:20330800-20331600	Enhancers	HSMM	muscle
16	chr2:20330800-20331800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:20330800-20331800	Enhancers	Osteobl	bone
18	chr2:20331000-20334000	Weak transcription	Stomach Mucosa	stomach
19	chr2:20331000-20335000	Weak transcription	Liver	Liver
20	chr2:20331000-20335600	Weak transcription	NHEK	skin
21	chr2:20331200-20331600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr2:20331200-20333000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:20331200-20334800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:20331200-20335000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:20331200-20335400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr2:20331200-20335800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:20331400-20331800	Enhancers	Small Intestine	intestine
28	chr2:20331400-20335600	Weak transcription	Fetal Lung	lung

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