Variant report

Variant	rs12994520
Chromosome Location	chr2:114097253-114097254
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:114087006..114091652-chr2:114092667..114098276,5	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12464648	1.00[ASN][1000 genomes]
rs12470761	1.00[ASN][1000 genomes]
rs17628215	1.00[ASN][1000 genomes]
rs72831831	1.00[ASN][1000 genomes]
rs73955047	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	nsv508162	chr2:113983043-114099966	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	esv2757826	chr2:114074949-114253780	Enhancers Strong transcription Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv2759085	chr2:114074949-114428678	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114083400-114108000	Weak transcription	Lung	lung
2	chr2:114088400-114097600	Weak transcription	HSMM	muscle
3	chr2:114088400-114097800	Weak transcription	NH-A	brain
4	chr2:114088600-114097800	Weak transcription	HSMMtube	muscle
5	chr2:114091000-114098600	Weak transcription	Fetal Intestine Small	intestine
6	chr2:114092800-114097600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:114093600-114097400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:114093800-114097600	Weak transcription	NHEK	skin
9	chr2:114093800-114098800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:114093800-114100200	Weak transcription	NHDF-Ad	bronchial
11	chr2:114094000-114097400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:114094000-114098600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:114094200-114097400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:114095400-114098200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:114095800-114097400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:114096000-114097600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:114096200-114098400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:114096800-114097800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr2:114096800-114101600	Weak transcription	Right Atrium	heart
20	chr2:114097000-114098000	Bivalent Enhancer	Fetal Kidney	kidney
21	chr2:114097000-114098200	Enhancers	HMEC	breast
22	chr2:114097200-114097400	Genic enhancers	A549	lung

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