Variant report

Variant	rs12995439
Chromosome Location	chr2:113703646-113703647
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113703635..113705801-chr2:113709955..113711603,2	K562	blood:
2	chr2:113703635..113706262-chr2:113709716..113711603,3	K562	blood:
3	chr2:113703112..113705679-chr2:113706135..113709109,2	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10864907	0.81[CHB][hapmap]
rs11123151	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs1143623	0.81[AMR][1000 genomes]
rs11683383	0.84[ASN][1000 genomes]
rs11683399	0.81[AMR][1000 genomes]
rs11690185	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11690539	0.82[AMR][1000 genomes]
rs11690879	0.82[AMR][1000 genomes]
rs11695077	0.84[ASN][1000 genomes]
rs11696039	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893071	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12053091	0.84[AMR][1000 genomes]
rs12105482	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12464758	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12465526	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12466604	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12466653	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12466697	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12467810	0.91[ASN][1000 genomes]
rs12467847	0.91[ASN][1000 genomes]
rs12470439	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12471839	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12472089	0.83[AMR][1000 genomes]
rs12477661	0.85[AMR][1000 genomes]
rs12479173	0.86[AMR][1000 genomes]
rs12614316	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12614988	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12616801	0.85[JPT][hapmap]
rs12617864	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12618418	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12621220	0.83[AMR][1000 genomes]
rs12623837	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12993351	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13008855	0.82[AMR][1000 genomes]
rs13021862	0.86[AMR][1000 genomes]
rs13026837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13033104	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs1317913	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13418326	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs2305152	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs34027384	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34899562	0.86[AMR][1000 genomes]
rs35520189	0.82[AMR][1000 genomes]
rs35880601	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4077216	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58788639	0.85[AMR][1000 genomes]
rs66591921	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6705432	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6716380	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6720230	0.85[AMR][1000 genomes]
rs6722962	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723197	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723582	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6733001	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6733003	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67721272	0.84[AMR][1000 genomes]
rs67995749	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825577	0.83[AMR][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	nsv532471	chr2:113682449-113862981	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv979388	chr2:113696105-113705504	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113702600-113705800	ZNF genes & repeats	Liver	Liver
2	chr2:113703000-113711400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:113703600-113704000	Active TSS	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links