Variant report

Variant	rs58813899
Chromosome Location	chr12:46932965-46932966
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 145 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:141)

rs_ID	r²[population]
rs10785631	0.82[EUR][1000 genomes]
rs10880975	0.82[EUR][1000 genomes]
rs10880976	0.82[EUR][1000 genomes]
rs10880977	0.82[EUR][1000 genomes]
rs10880980	0.93[EUR][1000 genomes]
rs11183507	0.82[EUR][1000 genomes]
rs11183524	0.90[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183536	0.95[EUR][1000 genomes]
rs11183539	0.88[EUR][1000 genomes]
rs11183547	0.88[EUR][1000 genomes]
rs11183550	0.88[EUR][1000 genomes]
rs11504523	0.82[EUR][1000 genomes]
rs11829502	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11830099	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11830501	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11831177	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11831920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11831929	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11832316	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11833393	0.90[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11834607	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835517	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835974	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11836915	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11836940	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11837104	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12300125	0.95[EUR][1000 genomes]
rs12578813	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12579089	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12579348	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12579976	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12580092	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12580356	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12580488	0.89[EUR][1000 genomes]
rs12581205	0.84[EUR][1000 genomes]
rs12581311	0.89[EUR][1000 genomes]
rs12581366	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12582013	0.89[EUR][1000 genomes]
rs12582056	0.88[EUR][1000 genomes]
rs12582476	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17096991	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17096995	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17097002	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17097009	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17097022	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17121410	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17121412	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17594275	0.89[EUR][1000 genomes]
rs17611638	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1946175	0.95[EUR][1000 genomes]
rs2042058	0.93[EUR][1000 genomes]
rs2193662	0.86[EUR][1000 genomes]
rs2193663	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2216439	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235601	0.88[EUR][1000 genomes]
rs235602	0.88[EUR][1000 genomes]
rs235607	0.84[EUR][1000 genomes]
rs235610	0.88[EUR][1000 genomes]
rs235616	0.81[EUR][1000 genomes]
rs235621	0.84[EUR][1000 genomes]
rs235622	0.84[EUR][1000 genomes]
rs235625	0.84[EUR][1000 genomes]
rs235626	0.84[EUR][1000 genomes]
rs235627	0.84[EUR][1000 genomes]
rs2408576	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2408577	0.95[EUR][1000 genomes]
rs2430937	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2430939	0.88[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2430940	0.95[EUR][1000 genomes]
rs2430941	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2430942	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2430943	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2430946	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2430947	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2471581	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2471583	0.93[EUR][1000 genomes]
rs2471588	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2471594	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2471601	0.95[EUR][1000 genomes]
rs2471602	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2471605	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2471608	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2471617	0.85[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2471618	0.98[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28768973	0.87[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2897969	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2909411	0.87[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2960450	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34008890	0.84[EUR][1000 genomes]
rs35096979	0.84[EUR][1000 genomes]
rs4073924	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4604970	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768125	0.88[EUR][1000 genomes]
rs4768742	0.82[EUR][1000 genomes]
rs4768744	0.83[EUR][1000 genomes]
rs56111534	0.82[EUR][1000 genomes]
rs56152575	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56181923	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56271434	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56399247	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57158113	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57370043	0.84[EUR][1000 genomes]
rs57439008	0.82[EUR][1000 genomes]
rs57658610	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58449317	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58503088	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58561072	0.84[EUR][1000 genomes]
rs59521025	0.82[EUR][1000 genomes]
rs59903937	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60191997	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60432604	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60669661	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60681792	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61072098	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61355826	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61641663	0.84[EUR][1000 genomes]
rs6582666	0.82[EUR][1000 genomes]
rs7138914	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295471	0.82[EUR][1000 genomes]
rs7302876	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7308386	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310326	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7310408	0.83[EUR][1000 genomes]
rs73282109	0.84[EUR][1000 genomes]
rs73290381	0.95[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73290402	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73291964	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73291976	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73291980	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73292000	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73292001	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73293911	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73293919	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74085431	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7488464	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765707	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs766794	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7976710	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9669050	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs977069	0.88[EUR][1000 genomes]
rs9783500	0.82[EUR][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	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 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	chr12:46925200-46940600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:46925400-46939000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:46925400-46940200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:46925600-46940000	Weak transcription	NHEK	skin
5	chr12:46925800-46940200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:46926400-46939000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:46927600-46933000	Enhancers	Fetal Muscle Leg	muscle
8	chr12:46927600-46933600	Enhancers	Fetal Heart	heart
9	chr12:46928400-46948600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:46929000-46933400	Enhancers	HepG2	liver
11	chr12:46929600-46933800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr12:46930000-46933000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:46930000-46933800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:46930200-46933400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr12:46930400-46933200	Weak transcription	Left Ventricle	heart
16	chr12:46930600-46938600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:46930600-46940000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr12:46930800-46938600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:46930800-46940200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:46931000-46933000	Weak transcription	GM12878-XiMat	blood
21	chr12:46931200-46933000	Enhancers	Psoas Muscle	Psoas
22	chr12:46931400-46933200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:46931800-46933000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:46932600-46933200	Enhancers	Right Atrium	heart
25	chr12:46932800-46933000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr12:46932800-46933000	Enhancers	Primary B cells from cord blood	blood
27	chr12:46932800-46933600	Enhancers	Ovary	ovary

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