Variant report

Variant	rs72712658
Chromosome Location	chr1:171096700-171096701
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10489229	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1080197	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11809504	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11812044	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11812061	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12403297	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12404455	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12405599	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12406572	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17564980	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17565336	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17565579	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17565766	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17565793	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17565983	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17565990	0.86[AMR][1000 genomes]
rs17566256	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17623477	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17623598	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17623833	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17640463	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2066529	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2142630	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2266780	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2272797	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2272799	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2272800	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2281006	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2281007	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2281008	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28363530	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28363536	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28363537	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28363541	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28363571	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35156637	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3817765	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs55639094	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs57147275	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs57519348	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs57678907	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs58044560	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs58374074	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs58509777	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs59184216	0.92[ASN][1000 genomes]
rs6608452	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6608453	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6608454	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7051747	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7054839	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7061710	0.94[ASN][1000 genomes]
rs7063044	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7066454	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72712649	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72712685	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7879557	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7885569	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7886938	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7887142	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7889807	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7889839	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs909531	0.94[EUR][1000 genomes];0.94[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	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171091000-171098200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:171091600-171109000	Weak transcription	Right Ventricle	heart
3	chr1:171092600-171097200	Weak transcription	Aorta	Aorta
4	chr1:171092600-171097200	Weak transcription	Lung	lung
5	chr1:171092800-171097200	Weak transcription	Left Ventricle	heart
6	chr1:171092800-171097400	Weak transcription	Pancreas	Pancrea
7	chr1:171095400-171097200	Enhancers	Adipose Nuclei	Adipose
8	chr1:171095400-171097400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:171095800-171096800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr1:171095800-171097200	Weak transcription	Esophagus	oesophagus
11	chr1:171095800-171097200	Enhancers	Fetal Lung	lung
12	chr1:171095800-171097400	Enhancers	NHDF-Ad	bronchial
13	chr1:171095800-171097600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:171095800-171098000	Enhancers	NHLF	lung
15	chr1:171096000-171097000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:171096000-171097000	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:171096000-171097200	Enhancers	Colon Smooth Muscle	Colon
18	chr1:171096000-171097200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:171096000-171097200	Weak transcription	Gastric	stomach
20	chr1:171096000-171097600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr1:171096000-171097600	Enhancers	NH-A	brain
22	chr1:171096200-171097800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:171096200-171098000	Enhancers	Osteobl	bone
24	chr1:171096400-171097400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:171096600-171097400	Enhancers	Stomach Smooth Muscle	stomach
26	chr1:171096600-171098000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:171096600-171098000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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