Variant report

Variant	rs1191689
Chromosome Location	chr2:114086579-114086580
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:114067489..114069342-chr2:114085282..114087156,2	MCF-7	breast:
2	chr2:114081925..114084093-chr2:114086383..114088538,3	MCF-7	breast:
3	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]
rs1191691	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1191696	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1191698	0.95[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	0.98[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	chr2:114083400-114086600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:114083400-114086600	Weak transcription	Esophagus	oesophagus
3	chr2:114083400-114086600	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:114083400-114086600	Weak transcription	NHLF	lung
5	chr2:114083400-114086800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:114083400-114086800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:114083400-114086800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:114083400-114087200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:114083400-114087400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:114083400-114090200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:114083400-114090800	Weak transcription	Fetal Intestine Small	intestine
12	chr2:114083400-114108000	Weak transcription	Lung	lung
13	chr2:114083600-114086600	Weak transcription	NH-A	brain
14	chr2:114083600-114086800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:114084600-114087800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:114084600-114088800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:114084600-114089000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:114084600-114089000	Enhancers	HMEC	breast
19	chr2:114085200-114086800	Enhancers	Liver	Liver
20	chr2:114085600-114086800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr2:114085600-114088400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:114085600-114088400	Enhancers	HSMM	muscle
23	chr2:114085600-114088600	Enhancers	HSMMtube	muscle
24	chr2:114085800-114086600	Weak transcription	Gastric	stomach
25	chr2:114085800-114088400	Enhancers	Osteobl	bone
26	chr2:114086000-114086600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:114086000-114087000	Weak transcription	NHDF-Ad	bronchial
28	chr2:114086000-114088200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:114086200-114087200	Enhancers	Fetal Lung	lung
30	chr2:114086200-114088400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:114086400-114086800	Active TSS	A549	lung
32	chr2:114086400-114087000	Flanking Active TSS	NHEK	skin

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