Variant report

Variant	rs11165159
Chromosome Location	chr1:95028278-95028279
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10874864	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10874865	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11165162	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11165163	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11165165	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11165169	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11165174	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11165176	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12028955	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12120233	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12125055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12354010	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12402343	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12567200	0.87[ASN][1000 genomes]
rs12742434	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12748337	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2022031	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34182043	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531881	chr1:94937444-95053785	Weak transcription Bivalent Enhancer Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv870696	chr1:95005220-95081587	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv871391	chr1:95005220-95083836	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95025800-95028400	Weak transcription	Esophagus	oesophagus
2	chr1:95027000-95029000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:95027600-95028400	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr1:95027800-95028400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:95028000-95028800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:95028000-95028800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr1:95028000-95029000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:95028000-95029000	Enhancers	Stomach Mucosa	stomach
9	chr1:95028000-95029000	Enhancers	HSMMtube	muscle
10	chr1:95028000-95029200	Enhancers	Fetal Intestine Large	intestine
11	chr1:95028200-95028400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:95028200-95028400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:95028200-95028400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr1:95028200-95028400	Enhancers	A549	lung
15	chr1:95028200-95028600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:95028200-95028600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:95028200-95028600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr1:95028200-95028800	Enhancers	Pancreas	Pancrea
19	chr1:95028200-95028800	Flanking Active TSS	HepG2	liver
20	chr1:95028200-95029000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:95028200-95029000	Enhancers	Colonic Mucosa	Colon
22	chr1:95028200-95029000	Enhancers	Duodenum Mucosa	Duodenum
23	chr1:95028200-95029000	Enhancers	Fetal Intestine Small	intestine
24	chr1:95028200-95029000	Enhancers	Placenta	Placenta
25	chr1:95028200-95029000	Enhancers	Placenta Amnion	Placenta Amnion
26	chr1:95028200-95029200	Enhancers	Hela-S3	cervix

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