Variant report

Variant	rs7005271
Chromosome Location	chr8:131378425-131378426
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	chr8:131370791..131374454-chr8:131375102..131378755,4	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs16904265	0.96[EUR][1000 genomes]
rs16904266	0.96[EUR][1000 genomes]
rs4495444	1.00[GIH][hapmap]
rs55637017	0.96[EUR][1000 genomes]
rs55642195	0.96[EUR][1000 genomes]
rs55686856	0.96[EUR][1000 genomes]
rs55692599	0.96[EUR][1000 genomes]
rs55758693	0.96[EUR][1000 genomes]
rs55759431	0.96[EUR][1000 genomes]
rs55867508	0.96[EUR][1000 genomes]
rs55871312	0.96[EUR][1000 genomes]
rs55891945	0.95[EUR][1000 genomes]
rs55961633	0.95[EUR][1000 genomes]
rs55968438	0.96[EUR][1000 genomes]
rs55979731	0.96[EUR][1000 genomes]
rs56241132	0.95[EUR][1000 genomes]
rs56285703	0.96[EUR][1000 genomes]
rs56297697	0.96[EUR][1000 genomes]
rs56308942	0.96[EUR][1000 genomes]
rs56313701	0.96[EUR][1000 genomes]
rs56323699	0.96[EUR][1000 genomes]
rs56336751	0.96[EUR][1000 genomes]
rs56349599	0.95[EUR][1000 genomes]
rs56385215	0.96[EUR][1000 genomes]
rs56405390	0.95[EUR][1000 genomes]
rs6993944	0.96[EUR][1000 genomes]
rs6994242	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs6994477	1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs6998031	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7004723	0.96[EUR][1000 genomes]
rs7462977	0.96[EUR][1000 genomes]
rs7815532	0.96[EUR][1000 genomes]
rs7821742	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs7836688	1.00[CEU][hapmap];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv612290	chr8:131370231-131381098	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131371400-131382000	Weak transcription	Lung	lung
2	chr8:131371400-131391400	Weak transcription	Spleen	Spleen
3	chr8:131371600-131378600	Weak transcription	Psoas Muscle	Psoas
4	chr8:131371600-131383800	Weak transcription	Ovary	ovary
5	chr8:131371600-131386800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:131371600-131389800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:131371600-131419800	Weak transcription	Aorta	Aorta
8	chr8:131371800-131382800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:131371800-131384400	Weak transcription	Brain Germinal Matrix	brain
10	chr8:131371800-131389800	Weak transcription	Fetal Stomach	stomach
11	chr8:131371800-131390800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr8:131371800-131396400	Weak transcription	HepG2	liver
13	chr8:131371800-131398400	Weak transcription	Fetal Lung	lung
14	chr8:131373800-131382000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:131373800-131382400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr8:131373800-131387400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:131373800-131389600	Weak transcription	Placenta	Placenta
18	chr8:131374600-131382000	Weak transcription	Fetal Muscle Leg	muscle
19	chr8:131374600-131384200	Weak transcription	Fetal Brain Male	brain
20	chr8:131374600-131390600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:131374600-131409000	Weak transcription	Fetal Brain Female	brain
22	chr8:131374800-131379800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:131376000-131379800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:131376400-131378800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr8:131376400-131378800	Enhancers	Hela-S3	cervix
26	chr8:131376400-131379000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:131376400-131379000	Enhancers	A549	lung
28	chr8:131376400-131379200	Enhancers	NHDF-Ad	bronchial
29	chr8:131376400-131381200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:131376400-131381200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:131376600-131378600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:131376600-131379000	Enhancers	HUVEC	blood vessel
33	chr8:131376600-131379200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:131376600-131380400	Enhancers	NH-A	brain
35	chr8:131376600-131380600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr8:131376600-131381200	Enhancers	Osteobl	bone
37	chr8:131377000-131379000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:131377000-131379000	Enhancers	NHEK	skin
39	chr8:131377000-131380000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr8:131377200-131379800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr8:131377400-131378600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr8:131377400-131378600	Weak transcription	Esophagus	oesophagus
43	chr8:131377400-131379800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:131377400-131379800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr8:131377400-131379800	Weak transcription	Right Ventricle	heart
46	chr8:131377400-131390600	Weak transcription	Left Ventricle	heart
47	chr8:131377600-131378600	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr8:131377600-131378600	Weak transcription	NHLF	lung
49	chr8:131377600-131379800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr8:131377600-131379800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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