Variant report

Variant	rs1191691
Chromosome Location	chr2:114085509-114085510
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	chr2:114067489..114069342-chr2:114085282..114087156,2	MCF-7	breast:
2	chr2:114085306..114088063-chr2:114124693..114126212,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11123180	0.85[ASN][1000 genomes]
rs1191688	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1191689	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1191696	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1191698	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12711766	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13427702	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1446620	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1838856	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1992775	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2008324	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2197595	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2592415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6542128	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7425255	0.86[AMR][1000 genomes];0.95[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

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114083200-114085600	Weak transcription	Gastric	stomach
2	chr2:114083400-114085600	Weak transcription	HSMM	muscle
3	chr2:114083400-114085600	Weak transcription	HSMMtube	muscle
4	chr2:114083400-114085800	Weak transcription	Osteobl	bone
5	chr2:114083400-114086000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:114083400-114086200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:114083400-114086600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:114083400-114086600	Weak transcription	Esophagus	oesophagus
9	chr2:114083400-114086600	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:114083400-114086600	Weak transcription	NHLF	lung
11	chr2:114083400-114086800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:114083400-114086800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:114083400-114086800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:114083400-114087200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:114083400-114087400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:114083400-114090200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:114083400-114090800	Weak transcription	Fetal Intestine Small	intestine
18	chr2:114083400-114108000	Weak transcription	Lung	lung
19	chr2:114083600-114085600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:114083600-114086600	Weak transcription	NH-A	brain
21	chr2:114083600-114086800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:114084600-114087800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:114084600-114088800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:114084600-114089000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:114084600-114089000	Enhancers	HMEC	breast
26	chr2:114084800-114085600	Transcr. at gene 5' and 3'	A549	lung
27	chr2:114084800-114085800	Genic enhancers	NHEK	skin
28	chr2:114085000-114085600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr2:114085200-114086000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:114085200-114086800	Enhancers	Liver	Liver
31	chr2:114085400-114085800	Bivalent Enhancer	HepG2	liver
32	chr2:114085400-114086000	Enhancers	NHDF-Ad	bronchial

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