Variant report

Variant	rs2695096
Chromosome Location	chr2:178769992-178769993
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10930813	0.80[YRI][hapmap]
rs1370657	0.87[YRI][hapmap];0.90[AFR][1000 genomes]
rs1438052	1.00[ASW][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs1898588	1.00[ASW][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs2573086	0.89[AFR][1000 genomes]
rs2695095	1.00[ASW][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2695106	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2695114	0.93[AFR][1000 genomes]
rs2695720	1.00[ASW][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs2695721	1.00[ASW][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs2695723	1.00[YRI][hapmap]
rs2695725	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs2695727	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2695759	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56189218	0.90[AFR][1000 genomes]
rs56230218	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56300810	0.93[AFR][1000 genomes]
rs6433700	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6712039	0.88[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6752913	0.86[ASW][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73972662	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73972663	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73972665	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73972667	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73972668	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73972669	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7570577	0.87[ASW][hapmap];0.80[YRI][hapmap]
rs9283485	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs934806	0.87[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv533377	chr2:178718801-178963463	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1007579	chr2:178729330-178890946	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv875451	chr2:178748294-178953409	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv998304	chr2:178756380-178924378	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv536056	chr2:178756380-178924378	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178762400-178770400	Weak transcription	Pancreas	Pancrea
2	chr2:178762600-178772600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:178765800-178774200	Weak transcription	HMEC	breast
4	chr2:178765800-178774600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:178766600-178772600	Weak transcription	NHEK	skin
6	chr2:178767000-178770600	Weak transcription	Liver	Liver
7	chr2:178767400-178770400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:178767800-178770600	Weak transcription	Stomach Mucosa	stomach
9	chr2:178768000-178770800	Weak transcription	Ovary	ovary
10	chr2:178768000-178773000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:178768200-178770400	Weak transcription	Adipose Nuclei	Adipose
12	chr2:178768200-178774000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:178768600-178770200	Weak transcription	Fetal Heart	heart
14	chr2:178768600-178770800	Weak transcription	Right Atrium	heart
15	chr2:178768600-178773000	Weak transcription	Left Ventricle	heart
16	chr2:178768600-178780000	Weak transcription	Psoas Muscle	Psoas

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