Variant report

Variant	rs11786342
Chromosome Location	chr8:124632947-124632948
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:124614662..124616733-chr8:124630973..124633484,2	MCF-7	breast:
2	chr8:124630020..124633411-chr8:124643439..124646269,5	MCF-7	breast:
3	chr8:124621417..124623503-chr8:124631883..124634146,2	MCF-7	breast:
4	chr8:124630537..124633840-chr8:124641197..124643373,3	MCF-7	breast:
5	chr8:124618781..124620563-chr8:124632222..124635150,2	K562	blood:
6	chr8:124599897..124602444-chr8:124632894..124635486,2	MCF-7	breast:
7	chr8:124595940..124598398-chr8:124632686..124634983,2	MCF-7	breast:
8	chr8:124631690..124636350-chr8:124636820..124639230,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251840	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10101723	1.00[ASN][1000 genomes]
rs11786123	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16898653	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28522167	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28587740	1.00[ASN][1000 genomes]
rs28609787	1.00[ASN][1000 genomes]
rs28859105	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59332090	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62518566	1.00[ASN][1000 genomes]
rs73335895	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73337515	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7821932	1.00[ASN][1000 genomes]
rs7826158	1.00[ASN][1000 genomes]
rs7838242	1.00[ASN][1000 genomes]
rs7838470	1.00[ASN][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	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	chr8:124624000-124635200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:124625200-124634800	Weak transcription	Placenta	Placenta
3	chr8:124626600-124633200	Enhancers	Fetal Heart	heart
4	chr8:124627400-124633000	Enhancers	HSMMtube	muscle
5	chr8:124628400-124633000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr8:124628400-124633800	Enhancers	Osteobl	bone
7	chr8:124629200-124633000	Enhancers	Colon Smooth Muscle	Colon
8	chr8:124629200-124645400	Weak transcription	Aorta	Aorta
9	chr8:124630400-124635600	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr8:124630600-124633000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:124630600-124633000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:124630800-124635400	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr8:124631200-124634200	Enhancers	HMEC	breast
14	chr8:124631200-124643000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:124631400-124633200	Enhancers	HepG2	liver
16	chr8:124631600-124634600	Weak transcription	Left Ventricle	heart
17	chr8:124631800-124634800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:124632000-124633000	Enhancers	Fetal Lung	lung
19	chr8:124632000-124633200	Weak transcription	Psoas Muscle	Psoas
20	chr8:124632000-124633200	Enhancers	Rectal Smooth Muscle	rectum
21	chr8:124632000-124634600	Weak transcription	K562	blood
22	chr8:124632200-124633000	Enhancers	Fetal Intestine Small	intestine
23	chr8:124632400-124633600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:124632600-124633400	Enhancers	Stomach Smooth Muscle	stomach
25	chr8:124632600-124633600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:124632600-124633800	Weak transcription	HSMM	muscle
27	chr8:124632800-124633800	Weak transcription	NHEK	skin
28	chr8:124632800-124634600	Weak transcription	Fetal Intestine Large	intestine

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