Variant report

Variant	rs12465526
Chromosome Location	chr2:113699981-113699982
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113642230..113643259-chr2:113698990..113700080,4	MCF-7	breast:
2	chr2:113694655..113699559-chr2:113699730..113703257,4	MCF-7	breast:
3	chr2:113699183..113701055-chr2:113704655..113706324,2	MCF-7	breast:
4	chr2:113507087..113507745-chr2:113699452..113699992,2	MCF-7	breast:
5	chr2:113695165..113698377-chr2:113699884..113701948,3	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10864907	0.86[CHB][hapmap]
rs11123151	0.87[AMR][1000 genomes]
rs11683383	0.84[ASN][1000 genomes]
rs11690185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11690539	0.81[AMR][1000 genomes]
rs11690879	0.81[AMR][1000 genomes]
rs11695077	0.84[ASN][1000 genomes]
rs11696039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893071	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12053091	0.81[AMR][1000 genomes]
rs12105482	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12464758	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12466604	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12466653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12466697	0.96[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	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12471839	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12477661	0.82[AMR][1000 genomes]
rs12479173	0.83[AMR][1000 genomes]
rs12614316	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12614988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12616801	0.80[CHB][hapmap];0.84[JPT][hapmap];0.80[AMR][1000 genomes]
rs12617864	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12618418	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12623837	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12993351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12995439	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13021862	0.83[AMR][1000 genomes]
rs13026837	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13033104	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs1317913	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13418326	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs17042602	0.85[YRI][hapmap]
rs17042611	0.87[YRI][hapmap]
rs2305152	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs2723152	0.82[AMR][1000 genomes]
rs34027384	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34899562	0.83[AMR][1000 genomes]
rs35880601	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4077216	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58788639	0.82[AMR][1000 genomes]
rs66591921	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6705432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6716380	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6720230	0.82[AMR][1000 genomes]
rs6722962	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723197	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723582	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6733001	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6733003	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67721272	0.81[AMR][1000 genomes]
rs67995749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113697600-113700400	Enhancers	Colon Smooth Muscle	Colon
2	chr2:113698200-113700000	Enhancers	Stomach Mucosa	stomach
3	chr2:113699000-113700800	Enhancers	NHEK	skin
4	chr2:113699000-113701000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:113699200-113700000	Enhancers	Duodenum Smooth Muscle	Duodenum
6	chr2:113699200-113700600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:113699200-113700600	Enhancers	HMEC	breast
8	chr2:113699400-113700400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:113699400-113700400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:113699600-113700400	Enhancers	Fetal Intestine Small	intestine
11	chr2:113699600-113700400	Enhancers	Gastric	stomach
12	chr2:113699600-113700600	Enhancers	HepG2	liver
13	chr2:113699800-113702400	Weak transcription	Liver	Liver

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