Variant report

Variant	rs13250924
Chromosome Location	chr8:129857419-129857420
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	chr8:129855829..129857601-chr8:129861654..129864302,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs12541496	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12541508	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12544343	0.88[EUR][1000 genomes]
rs12544345	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12548853	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12549424	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12549751	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13257555	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13269457	0.88[EUR][1000 genomes]
rs13269648	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13272774	0.88[EUR][1000 genomes]
rs13273255	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13275784	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13280887	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1596125	0.88[EUR][1000 genomes]
rs16903682	0.90[EUR][1000 genomes]
rs2028517	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34093858	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34757177	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34825160	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35055513	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35081453	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35181074	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35296092	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35299722	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35643497	0.90[EUR][1000 genomes]
rs35697214	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35950030	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35960460	0.88[EUR][1000 genomes]
rs35989243	0.87[EUR][1000 genomes]
rs36040241	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36141457	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs36142507	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56884764	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57630172	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58015045	0.88[EUR][1000 genomes]
rs61025881	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61580176	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67628488	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73373832	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73385409	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[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	nsv612212	chr8:129851646-129861039	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv612213	chr8:129851646-129862009	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv612214	chr8:129851646-129862252	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:129843800-129863600	Weak transcription	Dnd41	blood
2	chr8:129853400-129857600	Weak transcription	NHLF	lung
3	chr8:129854400-129857600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:129854800-129858400	Weak transcription	Brain Germinal Matrix	brain
5	chr8:129854800-129858600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:129854800-129858600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:129854800-129860000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:129854800-129860800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:129856400-129859400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:129856800-129858600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:129856800-129859000	Enhancers	Osteobl	bone
12	chr8:129856800-129859400	Enhancers	HSMM	muscle
13	chr8:129856800-129859600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:129857000-129858400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:129857000-129859000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:129857000-129859400	Enhancers	NHDF-Ad	bronchial
17	chr8:129857000-129859600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr8:129857200-129858000	Enhancers	NHEK	skin
19	chr8:129857200-129858200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:129857200-129858600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:129857200-129858600	Enhancers	HSMMtube	muscle
22	chr8:129857400-129858800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:129857400-129863400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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