Variant report

Variant	rs2956984
Chromosome Location	chr11:57486712-57486713
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57479298..57481073-chr11:57485511..57487387,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213593	Chromatin interaction
ENSG00000254462	Chromatin interaction
ENSG00000156603	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11229168	1.00[AMR][1000 genomes]
rs12283589	1.00[AMR][1000 genomes]
rs1704775	1.00[AMR][1000 genomes]
rs1941721	1.00[AMR][1000 genomes]
rs2509806	1.00[AMR][1000 genomes]
rs2911725	0.82[AFR][1000 genomes]
rs2926660	1.00[AMR][1000 genomes]
rs2926663	0.82[AFR][1000 genomes]
rs2956980	0.82[AFR][1000 genomes]
rs2956983	0.82[AFR][1000 genomes]
rs2969941	0.86[AFR][1000 genomes]
rs2969942	0.86[AFR][1000 genomes]
rs2969945	1.00[AMR][1000 genomes]
rs3016261	0.82[AFR][1000 genomes]
rs3016262	0.82[AFR][1000 genomes]
rs3016263	0.86[AFR][1000 genomes]
rs3016264	0.82[AFR][1000 genomes]
rs3016293	0.82[AFR][1000 genomes]
rs600251	1.00[AMR][1000 genomes]
rs603420	1.00[AMR][1000 genomes]
rs610801	1.00[AMR][1000 genomes]
rs621683	1.00[AMR][1000 genomes]
rs621731	1.00[AMR][1000 genomes]
rs635536	1.00[AMR][1000 genomes]
rs653915	1.00[AMR][1000 genomes]
rs660400	1.00[AMR][1000 genomes]
rs686303	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv508633	chr11:57419585-57560045	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv975188	chr11:57480320-57494198	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57481000-57496200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:57481000-57508400	Weak transcription	Aorta	Aorta
3	chr11:57481200-57487200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr11:57481200-57508400	Weak transcription	Fetal Brain Male	brain
5	chr11:57481400-57487600	Weak transcription	Placenta	Placenta
6	chr11:57481400-57490800	Weak transcription	Stomach Mucosa	stomach
7	chr11:57481400-57496400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:57481400-57500200	Weak transcription	Esophagus	oesophagus
9	chr11:57481400-57503200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:57481400-57505000	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr11:57481400-57506000	Weak transcription	Pancreas	Pancrea
12	chr11:57481600-57487600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr11:57481600-57488000	Weak transcription	HSMMtube	muscle
14	chr11:57481600-57492000	Weak transcription	Right Atrium	heart
15	chr11:57481600-57505000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:57481600-57505000	Weak transcription	Fetal Kidney	kidney
17	chr11:57481600-57505000	Weak transcription	NH-A	brain
18	chr11:57481600-57506200	Weak transcription	Colonic Mucosa	Colon
19	chr11:57481600-57508400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:57481800-57496000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr11:57481800-57503000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:57481800-57503000	Weak transcription	HSMM	muscle
23	chr11:57481800-57505000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:57481800-57505000	Weak transcription	Fetal Lung	lung
25	chr11:57482000-57487000	Weak transcription	NHDF-Ad	bronchial
26	chr11:57482000-57487200	Weak transcription	Fetal Brain Female	brain
27	chr11:57482000-57505000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr11:57482000-57505000	Weak transcription	NHLF	lung
29	chr11:57482000-57505200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:57482000-57505200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:57482000-57508200	Weak transcription	Brain Substantia Nigra	brain
32	chr11:57482200-57487400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr11:57482200-57487800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:57482200-57488000	Weak transcription	Osteobl	bone
35	chr11:57482200-57495200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr11:57482200-57496000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:57482200-57496400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr11:57482200-57498000	Weak transcription	HUVEC	blood vessel
39	chr11:57482200-57505000	Weak transcription	Brain Anterior Caudate	brain
40	chr11:57482200-57505000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr11:57482200-57505200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr11:57482200-57508200	Weak transcription	Colon Smooth Muscle	Colon
43	chr11:57482400-57487000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr11:57482400-57487200	Weak transcription	K562	blood
45	chr11:57482400-57487400	Weak transcription	Left Ventricle	heart
46	chr11:57482400-57487800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:57482400-57488000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr11:57482400-57494200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:57482400-57496000	Weak transcription	Brain Hippocampus Middle	brain
50	chr11:57482400-57500400	Weak transcription	Hela-S3	cervix

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