Variant report

Variant	rs12547295
Chromosome Location	chr8:124627579-124627580
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	chr8:124551934..124554097-chr8:124626463..124629241,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156804	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10216826	1.00[CHB][hapmap]
rs10956138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11991567	0.88[ASN][1000 genomes]
rs12545556	0.83[CHD][hapmap]
rs16898637	0.88[ASN][1000 genomes]
rs17254013	1.00[CHB][hapmap]
rs4871375	1.00[CHB][hapmap]
rs59344306	0.82[ASN][1000 genomes]
rs62520922	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62520925	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6470148	1.00[CHB][hapmap]
rs6470163	0.85[ASN][1000 genomes]
rs7001678	0.82[ASN][1000 genomes]
rs7005105	1.00[CHB][hapmap]
rs73339405	0.82[ASN][1000 genomes]
rs7816145	0.82[ASN][1000 genomes]
rs7825404	0.83[CHD][hapmap];0.88[GIH][hapmap]
rs9297669	1.00[CHB][hapmap]

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	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv612140	chr8:124604759-124738618	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1032155	chr8:124609702-124739559	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124610400-124628000	Weak transcription	Aorta	Aorta
2	chr8:124610400-124630000	Weak transcription	Right Atrium	heart
3	chr8:124619200-124629800	Weak transcription	Ovary	ovary
4	chr8:124624000-124635200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr8:124625200-124628400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:124625200-124634800	Weak transcription	Placenta	Placenta
7	chr8:124625800-124629000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:124626000-124630400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:124626000-124631000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:124626000-124632000	Weak transcription	NHEK	skin
11	chr8:124626200-124628800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:124626400-124628600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:124626400-124629000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:124626600-124627600	Enhancers	A549	lung
15	chr8:124626600-124628800	Weak transcription	HMEC	breast
16	chr8:124626600-124629000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:124626600-124629000	Weak transcription	NHLF	lung
18	chr8:124626600-124631000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:124626600-124633200	Enhancers	Fetal Heart	heart
20	chr8:124626800-124628400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:124626800-124628400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr8:124626800-124628400	Weak transcription	K562	blood
23	chr8:124626800-124628400	Weak transcription	NH-A	brain
24	chr8:124626800-124632000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:124627000-124627800	Weak transcription	NHDF-Ad	bronchial
26	chr8:124627000-124628400	Weak transcription	Osteobl	bone
27	chr8:124627400-124632600	Enhancers	HSMM	muscle
28	chr8:124627400-124633000	Enhancers	HSMMtube	muscle

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