Variant report

Variant	rs1191688
Chromosome Location	chr2:114091695-114091696
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11123180	0.85[ASN][1000 genomes]
rs1191684	0.86[AFR][1000 genomes]
rs1191685	0.86[AFR][1000 genomes]
rs1191687	0.86[AFR][1000 genomes]
rs1191689	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1191691	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1191696	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1191698	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12711766	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13427702	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1446620	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1838856	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1992775	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2008324	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2197595	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2592415	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6542128	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7425255	0.88[AMR][1000 genomes];0.98[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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114083400-114108000	Weak transcription	Lung	lung
2	chr2:114087200-114092000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr2:114087600-114093600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:114088200-114093400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:114088400-114093200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:114088400-114093200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:114088400-114097600	Weak transcription	HSMM	muscle
8	chr2:114088400-114097800	Weak transcription	NH-A	brain
9	chr2:114088600-114093400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:114088600-114093400	Weak transcription	NHDF-Ad	bronchial
11	chr2:114088600-114097800	Weak transcription	HSMMtube	muscle
12	chr2:114089000-114097000	Weak transcription	HMEC	breast
13	chr2:114089400-114093600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:114089600-114091800	Strong transcription	NHEK	skin
15	chr2:114090200-114095400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:114090400-114094400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:114090600-114092200	Genic enhancers	A549	lung
18	chr2:114091000-114092800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:114091000-114098600	Weak transcription	Fetal Intestine Small	intestine
20	chr2:114091200-114092000	Enhancers	Fetal Stomach	stomach
21	chr2:114091200-114092200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:114091200-114092200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:114091400-114093600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:114091400-114095000	Weak transcription	Right Atrium	heart
25	chr2:114091600-114091800	Enhancers	Fetal Muscle Leg	muscle

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