Variant report

Variant	rs289926
Chromosome Location	chr2:152097990-152097991
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152096466..152099037-chr2:152145207..152147647,2	K562	blood:
2	chr2:152096040..152098295-chr2:152099658..152101934,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123609	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10192637	1.00[EUR][1000 genomes]
rs11886339	1.00[EUR][1000 genomes]
rs11893447	1.00[EUR][1000 genomes]
rs12623108	0.81[ASN][1000 genomes]
rs16829823	0.86[ASN][1000 genomes]
rs16829833	0.92[ASN][1000 genomes]
rs16829835	0.92[ASN][1000 genomes]
rs289857	0.81[ASN][1000 genomes]
rs289863	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs289865	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs289867	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs289872	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs289873	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs289874	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs289875	0.97[ASN][1000 genomes]
rs289876	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs289878	0.81[ASN][1000 genomes]
rs289881	1.00[ASN][1000 genomes]
rs289884	1.00[ASN][1000 genomes]
rs289885	1.00[ASN][1000 genomes]
rs289888	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs289889	1.00[ASN][1000 genomes]
rs289890	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs289891	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs289917	1.00[ASN][1000 genomes]
rs289920	0.92[ASN][1000 genomes]
rs289925	1.00[ASN][1000 genomes]
rs381768	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs383265	0.81[ASN][1000 genomes]
rs391852	0.97[ASN][1000 genomes]
rs400073	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4664269	0.81[ASN][1000 genomes]
rs4665029	0.81[ASN][1000 genomes]
rs57327601	0.92[ASN][1000 genomes]
rs6433283	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6714072	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523849	chr2:151718133-152143524	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv834417	chr2:151980473-152154950	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1014936	chr2:152019809-152118479	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1012891	chr2:152019809-152306897	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152092600-152103000	Weak transcription	Ovary	ovary
2	chr2:152093000-152105200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:152094400-152105000	Weak transcription	Adipose Nuclei	Adipose
4	chr2:152094400-152105000	Weak transcription	Liver	Liver
5	chr2:152094400-152105200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:152094400-152117000	Weak transcription	A549	lung
7	chr2:152095200-152105200	Weak transcription	Osteobl	bone
8	chr2:152095400-152105200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:152095400-152107200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:152095600-152105200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:152096000-152104400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:152096000-152105200	Weak transcription	NHDF-Ad	bronchial
13	chr2:152096800-152098200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:152097400-152098400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:152097400-152098400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:152097400-152098800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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