Variant report

Variant	rs73980193
Chromosome Location	chr2:190100057-190100058
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 188 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:181)

rs_ID	r²[population]
rs10153543	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10153951	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10166669	1.00[ASN][1000 genomes]
rs10166763	1.00[ASN][1000 genomes]
rs10168736	1.00[ASN][1000 genomes]
rs10169952	1.00[ASN][1000 genomes]
rs10170085	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10172337	1.00[ASN][1000 genomes]
rs10174122	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10174725	1.00[ASN][1000 genomes]
rs10174952	1.00[ASN][1000 genomes]
rs10177339	1.00[ASN][1000 genomes]
rs10177917	1.00[ASN][1000 genomes]
rs10178328	1.00[ASN][1000 genomes]
rs10178743	1.00[ASN][1000 genomes]
rs10179002	1.00[ASN][1000 genomes]
rs10179972	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10181872	1.00[ASN][1000 genomes]
rs10182328	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182531	1.00[ASN][1000 genomes]
rs10182637	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10184389	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10185003	1.00[ASN][1000 genomes]
rs10185694	1.00[ASN][1000 genomes]
rs10186436	1.00[ASN][1000 genomes]
rs10187336	1.00[ASN][1000 genomes]
rs10187808	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187975	1.00[ASN][1000 genomes]
rs10188565	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189469	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10190096	1.00[ASN][1000 genomes]
rs10191409	1.00[ASN][1000 genomes]
rs10191847	1.00[ASN][1000 genomes]
rs10193984	1.00[ASN][1000 genomes]
rs10194834	1.00[ASN][1000 genomes]
rs10194934	1.00[ASN][1000 genomes]
rs10196977	1.00[ASN][1000 genomes]
rs10198744	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10200629	1.00[ASN][1000 genomes]
rs10201372	1.00[ASN][1000 genomes]
rs10201984	1.00[ASN][1000 genomes]
rs10203516	1.00[ASN][1000 genomes]
rs10203719	1.00[ASN][1000 genomes]
rs10204110	1.00[ASN][1000 genomes]
rs10204767	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10205215	1.00[ASN][1000 genomes]
rs10205775	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10206562	1.00[ASN][1000 genomes]
rs10207004	1.00[ASN][1000 genomes]
rs10208917	1.00[ASN][1000 genomes]
rs10209758	1.00[ASN][1000 genomes]
rs10221749	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10221861	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10439311	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10439312	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10469647	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10469738	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10469740	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10931412	1.00[ASN][1000 genomes]
rs10931413	1.00[ASN][1000 genomes]
rs12328504	1.00[ASN][1000 genomes]
rs12328515	1.00[ASN][1000 genomes]
rs12328914	1.00[ASN][1000 genomes]
rs13383723	1.00[ASN][1000 genomes]
rs13387876	1.00[ASN][1000 genomes]
rs13387877	1.00[ASN][1000 genomes]
rs13388039	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13388779	1.00[ASN][1000 genomes]
rs13391841	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13392896	1.00[ASN][1000 genomes]
rs13394718	1.00[ASN][1000 genomes]
rs13396640	1.00[ASN][1000 genomes]
rs13396910	1.00[ASN][1000 genomes]
rs13400624	1.00[ASN][1000 genomes]
rs13402678	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13402923	1.00[ASN][1000 genomes]
rs13405433	1.00[ASN][1000 genomes]
rs13407353	1.00[ASN][1000 genomes]
rs13407452	1.00[ASN][1000 genomes]
rs13407566	1.00[ASN][1000 genomes]
rs13409397	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13413979	1.00[ASN][1000 genomes]
rs13414763	1.00[ASN][1000 genomes]
rs13418443	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13419269	1.00[ASN][1000 genomes]
rs13419984	1.00[ASN][1000 genomes]
rs13420832	1.00[ASN][1000 genomes]
rs13421370	1.00[ASN][1000 genomes]
rs13423429	1.00[ASN][1000 genomes]
rs13423654	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13424586	1.00[ASN][1000 genomes]
rs13425539	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13425989	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13426851	1.00[ASN][1000 genomes]
rs13427092	1.00[ASN][1000 genomes]
rs13427686	1.00[ASN][1000 genomes]
rs13432036	1.00[ASN][1000 genomes]
rs13432963	1.00[ASN][1000 genomes]
rs28368169	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28414300	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28433254	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28545536	1.00[ASN][1000 genomes]
rs28567040	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28679474	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35852101	1.00[ASN][1000 genomes]
rs55808493	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55819631	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56063417	1.00[ASN][1000 genomes]
rs56900526	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56996340	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57047644	1.00[ASN][1000 genomes]
rs57187765	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57215654	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57398906	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57458325	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57525746	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57598703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58258584	1.00[ASN][1000 genomes]
rs58396131	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59397955	1.00[ASN][1000 genomes]
rs59506401	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59826931	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59872509	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60056080	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60341298	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60708586	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60863981	1.00[ASN][1000 genomes]
rs61154892	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61625679	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717036	1.00[ASN][1000 genomes]
rs6746050	1.00[ASN][1000 genomes]
rs7355598	1.00[ASN][1000 genomes]
rs73978603	0.81[EUR][1000 genomes]
rs73978605	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73978809	1.00[ASN][1000 genomes]
rs73978810	1.00[ASN][1000 genomes]
rs73978811	1.00[ASN][1000 genomes]
rs73978812	1.00[ASN][1000 genomes]
rs73978820	1.00[ASN][1000 genomes]
rs73978832	1.00[ASN][1000 genomes]
rs73978835	1.00[ASN][1000 genomes]
rs73978855	1.00[ASN][1000 genomes]
rs73978885	1.00[ASN][1000 genomes]
rs73980135	1.00[ASN][1000 genomes]
rs73980165	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980173	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980174	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980175	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980177	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980180	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980182	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980183	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980187	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980188	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980190	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980194	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980195	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980196	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980197	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980198	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980199	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980201	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980202	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73982004	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73982007	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73982032	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73982033	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73982034	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73982037	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558500	1.00[ASN][1000 genomes]
rs7561643	1.00[ASN][1000 genomes]
rs7562592	1.00[ASN][1000 genomes]
rs7566271	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7569974	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7584984	1.00[ASN][1000 genomes]
rs7599676	1.00[ASN][1000 genomes]
rs7609327	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9288164	1.00[ASN][1000 genomes]
rs9808058	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv3459921	chr2:190095697-190103073	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3459918	chr2:190095700-190103095	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3459920	chr2:190095837-190102922	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3459922	chr2:190095837-190102922	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1014747	chr2:190097979-190132854	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190096200-190101400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:190096600-190101400	Enhancers	NHDF-Ad	bronchial
3	chr2:190097200-190101400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr2:190097400-190101400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:190098200-190100400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:190098600-190100600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:190098600-190100600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:190098800-190100800	Weak transcription	NHEK	skin
9	chr2:190099400-190100800	Weak transcription	NHLF	lung
10	chr2:190099600-190100200	Weak transcription	A549	lung
11	chr2:190099600-190101200	Enhancers	Osteobl	bone
12	chr2:190099800-190100600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:190099800-190100800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:190100000-190100400	Weak transcription	HMEC	breast
15	chr2:190100000-190100400	Weak transcription	HSMM	muscle

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