Variant report

Variant	rs1446522
Chromosome Location	chr2:113827503-113827504
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113825741..113828601-chr2:113834628..113836423,2	MCF-7	breast:
2	chr2:113826166..113827834-chr2:113829745..113831406,2	K562	blood:
3	chr2:113826651..113828655-chr2:113831530..113833461,2	K562	blood:
4	chr2:113819855..113821776-chr2:113826453..113828275,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136695	Chromatin interaction
ENSG00000136697	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10496447	1.00[JPT][hapmap]
rs1156701	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1530549	1.00[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17042709	0.85[CEU][hapmap];0.80[TSI][hapmap]
rs17042735	0.85[CEU][hapmap];0.80[TSI][hapmap]
rs17042751	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs17042755	1.00[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs17660913	1.00[JPT][hapmap]
rs2472189	1.00[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs2515406	1.00[CEU][hapmap];0.88[CHD][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs2862774	1.00[JPT][hapmap]
rs28928282	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.84[MEX][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28928285	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28992496	0.95[EUR][1000 genomes]
rs28992497	0.95[EUR][1000 genomes]
rs28992498	0.95[EUR][1000 genomes]
rs3752739	0.85[CEU][hapmap];0.80[TSI][hapmap]
rs6755354	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72946735	0.95[EUR][1000 genomes]
rs72946737	0.95[EUR][1000 genomes]
rs957200	1.00[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs996878	0.86[EUR][1000 genomes]
rs996879	0.85[CEU][hapmap];0.91[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1007254	chr2:113726982-113887782	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv535894	chr2:113726982-113887782	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv2881	chr2:113800805-113846597	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113825200-113827800	Enhancers	Fetal Intestine Large	intestine
2	chr2:113825200-113828200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:113825200-113828200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:113825400-113833000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:113825800-113832800	Enhancers	NHEK	skin
6	chr2:113825800-113839600	Enhancers	HMEC	breast
7	chr2:113826200-113833200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:113826600-113828800	Enhancers	Placenta Amnion	Placenta Amnion
9	chr2:113827000-113828600	Enhancers	Placenta	Placenta
10	chr2:113827200-113827800	Enhancers	HSMMtube	muscle
11	chr2:113827200-113828200	Enhancers	Esophagus	oesophagus
12	chr2:113827400-113827800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:113827400-113827800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:113827400-113832400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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