Variant report

Variant	rs6470298
Chromosome Location	chr8:125884834-125884835
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125876735..125880494-chr8:125880552..125885100,4	K562	blood:
2	chr15:45899647..45900569-chr8:125884333..125885038,2	MCF-7	breast:
3	chr8:125877925..125881102-chr8:125882727..125885100,3	K562	blood:
4	chr8:125868740..125869654-chr8:125884258..125885154,2	MCF-7	breast:
5	chr8:125879365..125882872-chr8:125883741..125886693,4	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10109611	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11784930	0.82[YRI][hapmap]
rs11987239	0.82[YRI][hapmap]
rs12549398	1.00[EUR][1000 genomes]
rs12549495	1.00[EUR][1000 genomes]
rs12680676	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13272895	0.82[YRI][hapmap]
rs13282088	0.84[AFR][1000 genomes]
rs13282814	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1365690	0.80[MEX][hapmap]
rs28416206	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28513518	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28806495	1.00[EUR][1000 genomes]
rs4870930	0.80[MEX][hapmap]
rs4871557	0.80[MEX][hapmap]
rs4871558	0.81[CHB][hapmap];0.85[YRI][hapmap]
rs4871559	0.87[MEX][hapmap]
rs4871560	0.82[YRI][hapmap]
rs4871562	0.87[LWK][hapmap];0.82[YRI][hapmap]
rs4871566	0.86[MEX][hapmap]
rs57912119	1.00[EUR][1000 genomes]
rs59059860	1.00[EUR][1000 genomes]
rs59234651	1.00[EUR][1000 genomes]
rs6470296	0.82[YRI][hapmap]
rs6470300	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6470302	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6470303	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6470305	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6470306	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6470307	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6470308	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6470311	1.00[CEU][hapmap];0.84[CHD][hapmap];0.89[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6470317	0.87[MEX][hapmap]
rs67108254	1.00[EUR][1000 genomes]
rs67153029	0.96[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs67698519	1.00[EUR][1000 genomes]
rs6984710	0.84[AMR][1000 genomes]
rs6989386	1.00[EUR][1000 genomes]
rs6992468	0.82[YRI][hapmap]
rs7004579	0.80[MEX][hapmap]
rs7017632	1.00[EUR][1000 genomes]
rs72718716	1.00[EUR][1000 genomes]
rs72718730	1.00[EUR][1000 genomes]
rs7387254	0.87[MEX][hapmap]
rs7387480	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7387482	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7461227	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7461393	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7462143	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7462178	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7463173	1.00[EUR][1000 genomes]
rs7463222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7464577	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7464782	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7465413	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7827416	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7833872	0.86[MEX][hapmap]
rs9693629	0.84[AFR][1000 genomes]
rs9694845	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9694858	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9987227	0.80[MEX][hapmap]

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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030803	chr8:125868684-125969635	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1024405	chr8:125868684-125971035	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1020502	chr8:125868684-125972572	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125871000-125885200	Weak transcription	Esophagus	oesophagus
2	chr8:125880800-125885000	Weak transcription	Left Ventricle	heart
3	chr8:125882600-125886400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:125884400-125885000	Enhancers	HSMM	muscle
5	chr8:125884400-125885200	Enhancers	NHEK	skin
6	chr8:125884400-125885400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:125884400-125885400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr8:125884400-125885400	Flanking Active TSS	Osteobl	bone
9	chr8:125884400-125885600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:125884400-125885600	Enhancers	NHDF-Ad	bronchial
11	chr8:125884600-125885200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr8:125884600-125885200	Enhancers	Fetal Muscle Leg	muscle
13	chr8:125884600-125885200	Enhancers	HSMMtube	muscle
14	chr8:125884600-125885400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:125884600-125885400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:125884600-125885600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:125884600-125885600	Enhancers	NHLF	lung
18	chr8:125884800-125885000	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr8:125884800-125885200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:125884800-125885400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:125884800-125885400	Enhancers	Brain Cingulate Gyrus	brain
22	chr8:125884800-125885400	Enhancers	Fetal Lung	lung
23	chr8:125884800-125885400	Enhancers	Right Atrium	heart

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