Variant report

Variant	rs11780644
Chromosome Location	chr8:131449911-131449912
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	chr8:131448461..131451090-chr8:131454378..131456541,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153317	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11775398	0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.96[ASN][1000 genomes]
rs11779293	0.94[TSI][hapmap]
rs11784988	0.89[TSI][hapmap]
rs11785806	0.89[TSI][hapmap]
rs34179841	0.87[EUR][1000 genomes]
rs35220844	0.87[EUR][1000 genomes]
rs4301463	0.91[CEU][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs59710753	0.86[EUR][1000 genomes]
rs60744896	0.87[EUR][1000 genomes]
rs6470821	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6997802	0.91[CEU][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs72724478	0.87[EUR][1000 genomes]
rs72724485	0.87[EUR][1000 genomes]
rs72726214	0.95[EUR][1000 genomes]
rs72726218	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72726219	0.86[EUR][1000 genomes]
rs72726221	0.87[EUR][1000 genomes]
rs72726230	0.87[EUR][1000 genomes]
rs7461215	0.83[TSI][hapmap]
rs7816470	0.81[EUR][1000 genomes]
rs7817038	0.81[EUR][1000 genomes]
rs7834677	0.86[EUR][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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131429000-131454800	Weak transcription	Aorta	Aorta
2	chr8:131429600-131453800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:131434800-131453000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:131438200-131451400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:131438800-131451400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:131439200-131450200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:131439400-131450000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:131441000-131450600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:131441200-131453400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr8:131442000-131450600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:131443200-131451400	Strong transcription	NHEK	skin
12	chr8:131443400-131451400	Weak transcription	Fetal Kidney	kidney
13	chr8:131443600-131453000	Weak transcription	Esophagus	oesophagus
14	chr8:131444000-131454400	Weak transcription	Liver	Liver
15	chr8:131444000-131455000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:131444400-131450400	Weak transcription	Colon Smooth Muscle	Colon
17	chr8:131444400-131452800	Weak transcription	Fetal Brain Male	brain
18	chr8:131444400-131453000	Strong transcription	A549	lung
19	chr8:131444800-131451000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:131445000-131451400	Strong transcription	HMEC	breast
21	chr8:131445400-131450000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:131445400-131451800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr8:131445600-131452200	Weak transcription	Brain Angular Gyrus	brain
24	chr8:131445800-131452800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr8:131446000-131450400	Weak transcription	Fetal Heart	heart
26	chr8:131446800-131452600	Strong transcription	Hela-S3	cervix
27	chr8:131447200-131450000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:131447400-131450400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:131447400-131453400	Weak transcription	Gastric	stomach
30	chr8:131447400-131455000	Weak transcription	Pancreas	Pancrea
31	chr8:131447600-131450600	Weak transcription	NH-A	brain
32	chr8:131447600-131453400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:131447800-131450000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:131447800-131450600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr8:131447800-131450600	Weak transcription	Fetal Brain Female	brain
36	chr8:131447800-131451000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:131448200-131450800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:131448200-131450800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr8:131448400-131451000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:131448600-131450000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:131448600-131450000	Weak transcription	Brain Germinal Matrix	brain
42	chr8:131448800-131450000	Genic enhancers	Fetal Muscle Trunk	muscle
43	chr8:131448800-131450400	Enhancers	Spleen	Spleen
44	chr8:131448800-131451000	Genic enhancers	Fetal Stomach	stomach
45	chr8:131448800-131451200	Enhancers	Lung	lung
46	chr8:131449000-131450000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:131449000-131450200	Weak transcription	Colonic Mucosa	Colon
48	chr8:131449000-131450800	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr8:131449000-131451400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr8:131449200-131451200	Enhancers	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links