Variant report

Variant	rs13251743
Chromosome Location	chr8:49232921-49232922
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:49231222..49233241-chr8:49427300..49430063,3	MCF-7	breast:
2	chr8:49231421..49235901-chr8:49831866..49835382,4	MCF-7	breast:
3	chr8:49231670..49234533-chr8:49280162..49283024,2	MCF-7	breast:
4	chr8:49232603..49233354-chr8:49837851..49838387,2	MCF-7	breast:
5	chr8:49230639..49234892-chr8:49832465..49836593,5	MCF-7	breast:
6	chr8:49229484..49233078-chr8:49318380..49320785,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253140	Chromatin interaction
ENSG00000019549	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11778583	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11778932	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11782777	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11786911	0.90[ASN][1000 genomes]
rs1397549	0.89[EUR][1000 genomes]
rs7011212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7828724	0.89[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	nsv831310	chr8:49080177-49256440	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831311	chr8:49106160-49290209	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1018242	chr8:49190915-49243694	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv539600	chr8:49190915-49243694	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49227800-49233600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:49228000-49234200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:49228600-49233400	Enhancers	Placenta Amnion	Placenta Amnion
4	chr8:49228800-49233200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:49231800-49233000	Enhancers	NHLF	lung
6	chr8:49231800-49233800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:49231800-49233800	Enhancers	Fetal Lung	lung
8	chr8:49232000-49233000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:49232000-49233000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:49232000-49233000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:49232000-49233000	Enhancers	Osteobl	bone
12	chr8:49232000-49233400	Enhancers	Duodenum Mucosa	Duodenum
13	chr8:49232000-49233400	Enhancers	Fetal Muscle Leg	muscle
14	chr8:49232000-49233400	Enhancers	Fetal Stomach	stomach
15	chr8:49232000-49233400	Enhancers	NHDF-Ad	bronchial
16	chr8:49232000-49233600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:49232000-49233600	Enhancers	NHEK	skin
18	chr8:49232000-49235400	Weak transcription	Gastric	stomach
19	chr8:49232000-49235600	Weak transcription	Pancreas	Pancrea
20	chr8:49232000-49236400	Weak transcription	Esophagus	oesophagus
21	chr8:49232200-49233200	Enhancers	HMEC	breast
22	chr8:49232200-49233400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:49232200-49233800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr8:49232200-49233800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:49232400-49233600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:49232400-49236600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:49232600-49236600	Weak transcription	HSMM	muscle
28	chr8:49232800-49233000	Enhancers	Placenta	Placenta
29	chr8:49232800-49233200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:49232800-49233400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:49232800-49233400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:49232800-49236200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr8:49232800-49236400	Weak transcription	NH-A	brain
34	chr8:49232800-49237800	Weak transcription	Fetal Intestine Small	intestine

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