Variant report

Variant	rs6470290
Chromosome Location	chr8:125864556-125864557
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125642013..125645236-chr8:125863862..125867426,3	MCF-7	breast:
2	chr8:125863185..125866167-chr8:125900364..125902687,2	K562	blood:
3	chr4:141635333..141638070-chr8:125864538..125866745,2	MCF-7	breast:
4	chr8:125736316..125742243-chr8:125861977..125870763,24	MCF-7	breast:
5	chr8:125601699..125603557-chr8:125863717..125866161,2	MCF-7	breast:
6	chr8:125849543..125852163-chr8:125864125..125866129,2	MCF-7	breast:
7	chr8:125734815..125743876-chr8:125864194..125871100,21	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170873	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10093649	0.80[EUR][1000 genomes]
rs10111331	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10956219	0.90[EUR][1000 genomes]
rs10956220	0.86[CEU][hapmap];0.90[EUR][1000 genomes]
rs11774426	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs11784930	0.85[CEU][hapmap]
rs11987239	0.83[CEU][hapmap]
rs11990757	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994576	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11994907	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12542397	0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12547431	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs12549299	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs13272895	0.83[CEU][hapmap]
rs28446872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28460087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28597931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28731447	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4870928	0.82[CEU][hapmap];0.89[EUR][1000 genomes]
rs4871558	0.90[EUR][1000 genomes]
rs4871560	0.83[CEU][hapmap];0.90[EUR][1000 genomes]
rs4871562	0.85[CEU][hapmap]
rs6470288	0.89[EUR][1000 genomes]
rs6470289	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs6470294	0.90[EUR][1000 genomes]
rs6470296	0.83[CEU][hapmap]
rs6470313	0.93[CEU][hapmap]
rs6987095	0.85[CEU][hapmap];0.91[JPT][hapmap]
rs6988410	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6992468	0.86[CEU][hapmap];0.91[EUR][1000 genomes]
rs7015626	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7460031	0.91[EUR][1000 genomes]
rs7463566	0.91[EUR][1000 genomes]
rs7835994	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs7845282	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs9694326	0.83[CEU][hapmap];0.92[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125860400-125866000	Weak transcription	Esophagus	oesophagus
2	chr8:125861000-125865400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:125861000-125865600	Weak transcription	Right Ventricle	heart
4	chr8:125861400-125866000	Weak transcription	Pancreas	Pancrea
5	chr8:125861400-125869000	Weak transcription	Ovary	ovary
6	chr8:125862000-125865600	Weak transcription	Fetal Heart	heart
7	chr8:125862200-125866000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:125862200-125867200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:125862200-125868000	Weak transcription	HMEC	breast
10	chr8:125863000-125868600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:125863800-125868600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:125863800-125869000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:125864000-125865200	Weak transcription	Left Ventricle	heart
14	chr8:125864400-125865800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr8:125864400-125866000	Weak transcription	K562	blood

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