Variant report

Variant	rs72953626
Chromosome Location	chr11:86236063-86236064
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86233949..86236117-chr11:86381379..86384296,2	MCF-7	breast:
2	chr11:86013660..86015868-chr11:86235501..86237829,2	K562	blood:
3	chr11:86197110..86198736-chr11:86234162..86236654,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149196	Chromatin interaction
ENSG00000151376	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1006586	1.00[ASN][1000 genomes]
rs1006587	1.00[ASN][1000 genomes]
rs10444371	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10444372	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10444373	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10444374	0.86[AFR][1000 genomes]
rs10501622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10898488	1.00[ASN][1000 genomes]
rs10898495	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11234668	1.00[ASN][1000 genomes]
rs12361416	0.94[ASN][1000 genomes]
rs12362900	1.00[ASN][1000 genomes]
rs12421147	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12791972	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12792300	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12793707	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12799435	0.84[AMR][1000 genomes]
rs12799562	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12808738	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17149169	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28895937	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34405620	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35042210	1.00[ASN][1000 genomes]
rs7926965	1.00[ASN][1000 genomes]
rs7944836	1.00[ASN][1000 genomes]
rs7948764	0.87[AFR][1000 genomes]
rs9645703	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats 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	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv898056	chr11:86156848-86304402	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv555665	chr11:86230898-86417553	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv528182	chr11:86234604-86259006	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86223000-86238200	Weak transcription	Pancreas	Pancrea
2	chr11:86223800-86236800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr11:86223800-86237000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:86231400-86237400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:86231800-86236600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:86231800-86237000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:86231800-86237200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:86231800-86259000	Weak transcription	Left Ventricle	heart
9	chr11:86232200-86238600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr11:86232200-86250600	Weak transcription	Right Ventricle	heart
11	chr11:86234000-86236200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:86234000-86236400	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr11:86234000-86236400	Enhancers	HSMM	muscle
14	chr11:86234200-86236200	Enhancers	Fetal Lung	lung
15	chr11:86234200-86236200	Enhancers	HMEC	breast
16	chr11:86234200-86236200	Enhancers	HSMMtube	muscle
17	chr11:86234200-86236600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:86234400-86236200	Enhancers	Fetal Stomach	stomach
19	chr11:86234400-86236200	Enhancers	NHLF	lung
20	chr11:86234400-86236400	Enhancers	HepG2	liver
21	chr11:86234600-86236200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:86234600-86236200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:86234600-86236200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr11:86234800-86236200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr11:86235000-86236200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:86235000-86236200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr11:86235000-86236200	Enhancers	Placenta	Placenta
28	chr11:86235000-86236200	Enhancers	Stomach Smooth Muscle	stomach
29	chr11:86235200-86236200	Enhancers	Fetal Intestine Large	intestine
30	chr11:86235200-86236200	Enhancers	Fetal Kidney	kidney
31	chr11:86235400-86236200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:86235400-86236200	Flanking Active TSS	Hela-S3	cervix
33	chr11:86235600-86236200	Enhancers	Rectal Smooth Muscle	rectum
34	chr11:86235600-86236200	Enhancers	NHDF-Ad	bronchial
35	chr11:86235600-86236400	Flanking Active TSS	A549	lung
36	chr11:86235600-86238000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:86235800-86236200	Enhancers	Small Intestine	intestine
38	chr11:86235800-86236400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:86235800-86236400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:86235800-86236600	Weak transcription	Fetal Intestine Small	intestine
41	chr11:86236000-86236200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:86236000-86236200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:86236000-86236200	Flanking Active TSS	HUVEC	blood vessel
44	chr11:86236000-86236200	Flanking Active TSS	Osteobl	bone
45	chr11:86236000-86236600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr11:86236000-86236600	Enhancers	NH-A	brain
47	chr11:86236000-86236600	Enhancers	NHEK	skin
48	chr11:86236000-86237000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr11:86236000-86259000	Weak transcription	Ovary	ovary

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