Variant report

Variant	rs1191684
Chromosome Location	chr2:114095279-114095280
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	chr2:114087006..114091652-chr2:114092667..114098276,5	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1191682	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1191685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1191687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1191688	0.86[AFR][1000 genomes]
rs1838853	0.95[EUR][1000 genomes]
rs6713750	0.93[EUR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1191684	LOC654433	cis	parietal	SCAN

Chromatin state (count:24 , 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	chr2:114089000-114097000	Weak transcription	HMEC	breast
6	chr2:114090200-114095400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:114091000-114098600	Weak transcription	Fetal Intestine Small	intestine
8	chr2:114092800-114096400	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr2:114092800-114097600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:114093200-114095400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:114093600-114097400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:114093800-114095800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:114093800-114097600	Weak transcription	NHEK	skin
14	chr2:114093800-114098800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:114093800-114100200	Weak transcription	NHDF-Ad	bronchial
16	chr2:114094000-114097400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:114094000-114098600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:114094200-114097400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:114094400-114095400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:114094400-114095400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:114095000-114095800	Bivalent Enhancer	HepG2	liver
22	chr2:114095000-114096400	Enhancers	Liver	Liver
23	chr2:114095000-114097200	Strong transcription	A549	lung
24	chr2:114095200-114095800	Weak transcription	Right Atrium	heart

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