Variant report

Variant	rs73264774
Chromosome Location	chr8:68417189-68417190
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10957389	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11984622	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994817	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12115004	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1393897	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1566769	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16933341	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1812678	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1847292	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3824270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4386963	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57070848	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57097218	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57185404	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57312956	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57714056	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57836294	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58637111	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59607772	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60606572	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61142861	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61220075	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61679446	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472314	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6651314	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018199	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73262665	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73262669	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73262675	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73262680	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73262681	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73262685	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73262686	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73262688	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73262691	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73262695	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73262696	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73264707	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73264769	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73264780	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73264784	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73264792	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73264794	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7815213	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs966593	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs966594	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[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:33 , 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	chr8:68415200-68418200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr8:68416000-68417400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:68416000-68418000	Enhancers	NHLF	lung
5	chr8:68416000-68418200	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr8:68416200-68417400	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr8:68416200-68417600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:68416200-68418000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr8:68416200-68418000	Enhancers	NH-A	brain
10	chr8:68416200-68418000	Enhancers	Osteobl	bone
11	chr8:68416200-68418800	Enhancers	Adipose Nuclei	Adipose
12	chr8:68416200-68419200	Enhancers	HSMM	muscle
13	chr8:68416400-68417200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:68416400-68417600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr8:68416400-68417800	Enhancers	Dnd41	blood
16	chr8:68416400-68418200	Enhancers	HSMMtube	muscle
17	chr8:68416400-68418800	Enhancers	HMEC	breast
18	chr8:68416400-68419000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr8:68416600-68417200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:68416600-68417200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:68416600-68417200	Enhancers	NHEK	skin
22	chr8:68416600-68417600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:68416800-68417200	ZNF genes & repeats	Aorta	Aorta
24	chr8:68416800-68417200	Enhancers	Lung	lung
25	chr8:68416800-68417200	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr8:68416800-68417400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:68416800-68417400	Enhancers	Spleen	Spleen
28	chr8:68416800-68418800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:68416800-68419000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:68417000-68417200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:68417000-68417400	Enhancers	NHDF-Ad	bronchial
32	chr8:68417000-68417800	Weak transcription	Esophagus	oesophagus
33	chr8:68417000-68417800	Enhancers	GM12878-XiMat	blood

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