Variant report

Variant	rs12105482
Chromosome Location	chr2:113697235-113697236
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113694655..113699559-chr2:113699730..113703257,4	MCF-7	breast:
2	chr2:113695165..113698377-chr2:113699884..113701948,3	K562	blood:
3	chr2:113695796..113697897-chr2:113704279..113705804,2	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	0.88[AMR][1000 genomes]
rs11683383	0.82[ASN][1000 genomes]
rs11690185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11695077	0.82[ASN][1000 genomes]
rs11696039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11893071	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12053091	0.91[MEX][hapmap];0.82[AMR][1000 genomes]
rs12464758	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12465526	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12466604	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12466653	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12466697	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12467810	0.90[ASN][1000 genomes]
rs12467847	0.90[ASN][1000 genomes]
rs12470439	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12471839	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12472089	0.81[AMR][1000 genomes]
rs12477661	0.83[AMR][1000 genomes]
rs12479173	0.84[AMR][1000 genomes]
rs12614316	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12614988	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12616801	0.80[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap]
rs12617864	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12618418	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12621220	0.91[MEX][hapmap];0.81[AMR][1000 genomes]
rs12623837	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12993351	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12995439	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13008855	0.91[MEX][hapmap]
rs13021862	0.84[AMR][1000 genomes]
rs13026837	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13033104	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs1317913	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13418326	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs2305152	0.86[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap]
rs34027384	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34899562	0.84[AMR][1000 genomes]
rs4077216	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58788639	0.83[AMR][1000 genomes]
rs66591921	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6705432	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6716380	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6720230	0.83[AMR][1000 genomes]
rs6722962	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6723197	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6723582	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6733001	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6733003	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67721272	0.82[AMR][1000 genomes]
rs67995749	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72825577	0.81[AMR][1000 genomes]
rs7604521	0.94[YRI][hapmap]
rs9784135	0.83[YRI][hapmap]

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	chr2:113694000-113699200	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:113695800-113697600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:113696000-113697400	Enhancers	HMEC	breast
4	chr2:113696400-113697600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:113696600-113697400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:113696600-113697400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:113696800-113697400	Bivalent Enhancer	HepG2	liver
8	chr2:113697000-113699000	Weak transcription	NHEK	skin
9	chr2:113697000-113699800	Enhancers	Liver	Liver
10	chr2:113697200-113697400	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr2:113697200-113697400	Enhancers	Gastric	stomach
12	chr2:113697200-113699000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:113697200-113699400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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