Variant report

Variant	rs73262695
Chromosome Location	chr8:68405629-68405630
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10957389	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11984622	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11994817	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12115004	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1393897	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1566769	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16933341	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1812678	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1847292	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3824270	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4386963	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57070848	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57097218	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57185404	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57312956	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57438989	0.81[ASN][1000 genomes]
rs57714056	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57836294	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58637111	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59607772	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60606572	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61142861	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61220075	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61679446	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6415606	0.81[ASN][1000 genomes]
rs6472300	0.81[ASN][1000 genomes]
rs6472301	0.81[ASN][1000 genomes]
rs6472302	0.81[ASN][1000 genomes]
rs6472303	0.81[ASN][1000 genomes]
rs6472306	0.81[ASN][1000 genomes]
rs6472307	0.81[ASN][1000 genomes]
rs6472308	0.81[ASN][1000 genomes]
rs6472314	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6651314	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6992371	0.81[ASN][1000 genomes]
rs7005010	0.81[ASN][1000 genomes]
rs7018199	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73262624	0.81[ASN][1000 genomes]
rs73262636	0.81[ASN][1000 genomes]
rs73262638	0.81[ASN][1000 genomes]
rs73262648	0.81[ASN][1000 genomes]
rs73262665	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73262669	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73262675	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73262680	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73262681	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73262685	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73262686	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73262688	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73262691	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73262696	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73264707	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73264769	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73264774	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73264780	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73264784	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73264792	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73264794	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7815213	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7824691	0.81[ASN][1000 genomes]
rs7839073	0.81[ASN][1000 genomes]
rs7842960	0.81[ASN][1000 genomes]
rs7844794	0.81[ASN][1000 genomes]
rs966593	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs966594	0.94[EUR][1000 genomes];0.95[ASN][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	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024135	chr8:68235792-68629789	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv539642	chr8:68235792-68629789	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2752264	chr8:68244546-68647201	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68402600-68423000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr8:68402800-68412400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:68403000-68407000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:68404200-68406000	Enhancers	Fetal Lung	lung
5	chr8:68404200-68406200	Enhancers	NHDF-Ad	bronchial
6	chr8:68404400-68416800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:68404600-68405800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:68404800-68405800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:68404800-68406000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:68405000-68405800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr8:68405000-68406000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr8:68405200-68406200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:68405400-68406000	Enhancers	NHLF	lung
14	chr8:68405600-68405800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr8:68405600-68406000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr8:68405600-68406000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr8:68405600-68406000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr8:68405600-68406000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr8:68405600-68406000	Enhancers	HUES64 Cell Line	embryonic stem cell

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