Variant report

Variant	rs60514585
Chromosome Location	chr2:189676168-189676169
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 127 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10048793	0.96[EUR][1000 genomes]
rs10170845	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10172458	1.00[ASN][1000 genomes]
rs10185102	0.96[EUR][1000 genomes]
rs10445725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10445726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11674580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11678035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11678718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11681365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11682895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11684224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11687872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11688482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11693891	1.00[ASN][1000 genomes]
rs11695177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11695250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11695327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13397537	0.96[EUR][1000 genomes]
rs1524377	1.00[ASN][1000 genomes]
rs16830658	1.00[ASN][1000 genomes]
rs2690762	1.00[ASN][1000 genomes]
rs34323074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34587834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56934493	0.96[EUR][1000 genomes]
rs57351486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57832802	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58108785	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58210062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60162413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60307701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60602630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60608780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60916684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61011178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726558	1.00[ASN][1000 genomes]
rs698573	1.00[ASN][1000 genomes]
rs72898840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72898843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72898858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72898866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72898876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72898887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72898898	1.00[AFR][1000 genomes]
rs72898900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72900830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72900842	1.00[AMR][1000 genomes]
rs72900845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72900848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72900849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72900852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72900854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72900855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72900862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72900870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72902608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72902633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72902639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72902642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72902649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72902655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72902659	1.00[AMR][1000 genomes]
rs72902678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72902691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72904650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72904664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72904665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72904686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72904689	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72904690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72904691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72904695	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72904696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72904698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72904699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72904701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72904702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72906605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72906607	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72906610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72906611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72906616	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72906620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72906621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72906631	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72906633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72906638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72906640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72906643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72906646	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72906655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72906657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72906662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72906664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72906691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72906692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72906695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72906698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72908644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72908645	0.96[EUR][1000 genomes]
rs72908648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72908650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72908658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72908661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72908663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7565039	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7566920	0.96[EUR][1000 genomes]
rs7607418	1.00[ASN][1000 genomes]
rs7607507	0.96[EUR][1000 genomes]
rs7609094	1.00[ASN][1000 genomes]
rs781234	1.00[ASN][1000 genomes]
rs781261	0.84[ASN][1000 genomes]
rs781275	1.00[ASN][1000 genomes]
rs781277	1.00[ASN][1000 genomes]
rs781280	1.00[ASN][1000 genomes]
rs781285	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1000932	chr2:189542210-189677277	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv536088	chr2:189542210-189677277	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv875606	chr2:189579045-189688463	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875607	chr2:189579045-189711790	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1008847	chr2:189603961-189769705	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv997454	chr2:189615728-189770133	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1002175	chr2:189615728-189776301	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189672800-189678400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:189673000-189676800	Enhancers	NHDF-Ad	bronchial
3	chr2:189673000-189678400	Enhancers	Osteobl	bone
4	chr2:189673800-189677600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:189674600-189677800	Enhancers	Placenta Amnion	Placenta Amnion
6	chr2:189674600-189678600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:189675200-189676800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:189675400-189676200	Enhancers	Fetal Brain Male	brain
9	chr2:189675400-189676400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:189675400-189677000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:189675400-189678600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:189675600-189679200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:189675800-189678600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:189676000-189676400	Enhancers	HMEC	breast
15	chr2:189676000-189676600	Enhancers	NHLF	lung
16	chr2:189676000-189676800	Enhancers	NH-A	brain
17	chr2:189676000-189677000	Enhancers	HSMM	muscle
18	chr2:189676000-189677400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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