Variant report

Variant	rs2052718
Chromosome Location	chr8:95693932-95693933
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10091213	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10110080	0.81[ASN][1000 genomes]
rs1046155	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1046163	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10956925	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11785	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12542239	0.90[ASN][1000 genomes]
rs12543234	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12543253	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12543258	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12543404	0.89[ASN][1000 genomes]
rs12543514	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12544778	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12545296	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12545684	0.89[ASN][1000 genomes]
rs12545776	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12546263	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12546282	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12548165	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12550043	0.89[ASN][1000 genomes]
rs12675372	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12676890	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12676908	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12677519	0.90[ASN][1000 genomes]
rs12677807	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12677830	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12678311	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12678709	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12678729	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13248437	0.81[ASN][1000 genomes]
rs13254184	0.88[ASN][1000 genomes]
rs13266255	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1365203	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1365205	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1549466	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs15710	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs15726	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17717161	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2033074	0.88[ASN][1000 genomes]
rs2033075	0.88[ASN][1000 genomes]
rs2052719	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2052720	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2052721	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2068005	0.89[ASN][1000 genomes]
rs2241504	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2241505	0.88[ASN][1000 genomes]
rs2288260	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2303453	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2554396	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2554397	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2722874	0.89[ASN][1000 genomes]
rs2722876	0.89[ASN][1000 genomes]
rs2722883	0.89[ASN][1000 genomes]
rs2722884	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs28659779	0.81[ASN][1000 genomes]
rs34733016	0.89[ASN][1000 genomes]
rs3864655	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4008177	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4348460	0.88[ASN][1000 genomes]
rs4481558	0.89[ASN][1000 genomes]
rs4639480	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55865498	0.89[ASN][1000 genomes]
rs55890917	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57653937	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58422141	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59515090	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59557867	0.85[ASN][1000 genomes]
rs60573557	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62523459	0.83[ASN][1000 genomes]
rs6471457	0.90[ASN][1000 genomes]
rs6471460	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6471461	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6471462	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6471464	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6471465	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6471466	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6471467	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6471468	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6471470	0.88[ASN][1000 genomes]
rs6471471	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6471472	0.88[ASN][1000 genomes]
rs6471473	0.87[ASN][1000 genomes]
rs6471474	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6471475	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs66477120	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66850135	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67900173	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6992360	0.81[ASN][1000 genomes]
rs7010722	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7016360	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7017752	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7017996	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72676924	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72676929	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72676935	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7387164	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7388010	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7462846	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7464856	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7812489	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7813657	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7814238	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7814803	0.90[ASN][1000 genomes]
rs7815719	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7820441	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7827727	0.81[ASN][1000 genomes]
rs7829467	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7832022	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7832771	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7833299	0.85[ASN][1000 genomes]
rs7833363	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7836949	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7842246	0.89[ASN][1000 genomes]
rs7842400	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7842716	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9643347	0.81[ASN][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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95655600-95701200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:95656400-95701000	Strong transcription	H1 Cell Line	embryonic stem cell
3	chr8:95656400-95713000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
4	chr8:95656600-95699200	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr8:95656600-95701200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr8:95656600-95701600	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:95656600-95703200	Weak transcription	Stomach Mucosa	stomach
8	chr8:95657200-95701200	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:95657600-95699400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:95660600-95698000	Weak transcription	Fetal Stomach	stomach
11	chr8:95662600-95694600	Weak transcription	Lung	lung
12	chr8:95670800-95698800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:95670800-95703000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:95679600-95699000	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr8:95680600-95694200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr8:95680600-95718400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr8:95681400-95704400	Weak transcription	Gastric	stomach
18	chr8:95686800-95697000	Weak transcription	Esophagus	oesophagus
19	chr8:95689400-95695200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
20	chr8:95690200-95698600	Strong transcription	Fetal Intestine Small	intestine
21	chr8:95690200-95701000	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr8:95690200-95701200	Strong transcription	Duodenum Mucosa	Duodenum
23	chr8:95690600-95722600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:95690800-95694200	Weak transcription	Right Atrium	heart
25	chr8:95690800-95695200	Strong transcription	HMEC	breast
26	chr8:95691000-95712200	Weak transcription	Colonic Mucosa	Colon
27	chr8:95691400-95694600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr8:95691400-95706800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr8:95691600-95695000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:95691800-95694600	Weak transcription	Pancreas	Pancrea
31	chr8:95691800-95701800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:95692000-95701600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr8:95692800-95694200	Weak transcription	NHEK	skin
34	chr8:95692800-95695000	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr8:95693000-95699200	Weak transcription	Placenta	Placenta
36	chr8:95693200-95696800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:95693600-95695000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr8:95693600-95698000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr8:95693600-95698800	Strong transcription	Fetal Intestine Large	intestine
40	chr8:95693600-95701200	Strong transcription	Rectal Mucosa Donor 31	rectum

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