Variant report

Variant	rs72726230
Chromosome Location	chr8:131450990-131450991
allele	C/T
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: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11780644	0.87[EUR][1000 genomes]
rs11784953	0.86[EUR][1000 genomes]
rs6470821	0.82[EUR][1000 genomes]
rs72724491	0.86[EUR][1000 genomes]
rs72724496	0.86[EUR][1000 genomes]
rs72724497	0.86[EUR][1000 genomes]
rs72726214	0.82[EUR][1000 genomes]
rs72726218	0.81[EUR][1000 genomes]
rs72726219	0.98[EUR][1000 genomes]
rs72726221	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7816470	0.93[EUR][1000 genomes]
rs7817038	0.93[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:94 , 50 per page) page: 1 2

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	chr8:131441200-131453400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr8:131443200-131451400	Strong transcription	NHEK	skin
8	chr8:131443400-131451400	Weak transcription	Fetal Kidney	kidney
9	chr8:131443600-131453000	Weak transcription	Esophagus	oesophagus
10	chr8:131444000-131454400	Weak transcription	Liver	Liver
11	chr8:131444000-131455000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:131444400-131452800	Weak transcription	Fetal Brain Male	brain
13	chr8:131444400-131453000	Strong transcription	A549	lung
14	chr8:131444800-131451000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:131445000-131451400	Strong transcription	HMEC	breast
16	chr8:131445400-131451800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:131445600-131452200	Weak transcription	Brain Angular Gyrus	brain
18	chr8:131445800-131452800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr8:131446800-131452600	Strong transcription	Hela-S3	cervix
20	chr8:131447400-131453400	Weak transcription	Gastric	stomach
21	chr8:131447400-131455000	Weak transcription	Pancreas	Pancrea
22	chr8:131447600-131453400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:131447800-131451000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:131448400-131451000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:131448800-131451000	Genic enhancers	Fetal Stomach	stomach
26	chr8:131448800-131451200	Enhancers	Lung	lung
27	chr8:131449000-131451400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr8:131449200-131451200	Enhancers	Primary B cells from peripheral blood	blood
29	chr8:131449400-131451200	Enhancers	Right Atrium	heart
30	chr8:131449400-131451600	Genic enhancers	Muscle Satellite Cultured Cells	--
31	chr8:131449400-131453000	Genic enhancers	HUVEC	blood vessel
32	chr8:131449400-131453400	Genic enhancers	Placenta	Placenta
33	chr8:131449400-131453600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:131449400-131454400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:131449600-131451000	Enhancers	Brain Anterior Caudate	brain
36	chr8:131449600-131451000	Flanking Active TSS	NHDF-Ad	bronchial
37	chr8:131449600-131451200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:131449600-131451200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:131449600-131451200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
40	chr8:131449600-131452800	Strong transcription	HepG2	liver
41	chr8:131449800-131451200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
42	chr8:131450000-131451000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr8:131450000-131451000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:131450000-131451400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:131450200-131451200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr8:131450200-131451600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr8:131450200-131451600	Enhancers	Brain Substantia Nigra	brain
48	chr8:131450200-131454600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr8:131450200-131454800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr8:131450200-131454800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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