Variant report

Variant	rs2393918
Chromosome Location	chr6:27131984-27131985
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27130956..27132580-chr6:27154818..27157126,2	K562	blood:
2	chr6:27129652..27132851-chr6:27133864..27136225,4	MCF-7	breast:
3	chr6:27130895..27132659-chr6:27796327..27798993,2	MCF-7	breast:
4	chr6:27130865..27132489-chr6:27141029..27143301,2	MCF-7	breast:
5	chr6:27129334..27133279-chr6:27777254..27779059,3	MCF-7	breast:
6	chr6:27130515..27132785-chr6:27154818..27157852,3	K562	blood:

Variant related genes	Relation type
ENSG00000203813	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1028308	0.80[JPT][hapmap]
rs12055730	0.90[EUR][1000 genomes]
rs13437532	1.00[CEU][hapmap]
rs16897467	1.00[CEU][hapmap]
rs3800317	1.00[CEU][hapmap]
rs41473150	1.00[CEU][hapmap]
rs4582379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711143	1.00[CEU][hapmap]
rs57375968	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6456769	0.92[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6922098	1.00[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6927247	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6933999	0.89[JPT][hapmap]
rs760647	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7745588	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7745603	0.89[JPT][hapmap]
rs858964	0.81[JPT][hapmap]
rs9295730	0.80[JPT][hapmap]
rs9348754	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9348755	0.90[EUR][1000 genomes]
rs9366682	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9366683	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9368488	1.00[CEU][hapmap]
rs9379957	1.00[CEU][hapmap]
rs9379960	0.80[JPT][hapmap]
rs9379961	0.83[ASN][1000 genomes]
rs9379962	0.81[ASN][1000 genomes]
rs9379963	0.90[EUR][1000 genomes]
rs9393788	0.90[EUR][1000 genomes]
rs9393791	0.81[JPT][hapmap]
rs9393792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9467996	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9468060	1.00[CEU][hapmap]
rs994690	1.00[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]

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	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27126000-27135800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:27126200-27136000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:27129400-27132400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:27130600-27135800	Weak transcription	K562	blood
5	chr6:27130600-27136000	Weak transcription	A549	lung
6	chr6:27130800-27135000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:27131200-27132000	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr6:27131200-27132400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:27131400-27132200	Enhancers	Primary monocytes fromperipheralblood	blood

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