Variant report

Variant	rs235602
Chromosome Location	chr12:47033756-47033757
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 141 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:132)

rs_ID	r²[population]
rs10880980	0.81[EUR][1000 genomes]
rs11183524	0.93[EUR][1000 genomes]
rs11183536	0.93[EUR][1000 genomes]
rs11183539	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11183547	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11183550	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11830099	0.88[EUR][1000 genomes]
rs11830501	0.88[EUR][1000 genomes]
rs11831920	0.88[EUR][1000 genomes]
rs11831929	0.88[EUR][1000 genomes]
rs11832316	0.88[EUR][1000 genomes]
rs11833393	0.93[EUR][1000 genomes]
rs11834607	0.93[EUR][1000 genomes]
rs11835517	0.88[EUR][1000 genomes]
rs11835974	0.88[EUR][1000 genomes]
rs11836915	0.81[EUR][1000 genomes]
rs11836940	0.88[EUR][1000 genomes]
rs11837104	0.88[EUR][1000 genomes]
rs12300125	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12310635	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12320420	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12578813	0.95[EUR][1000 genomes]
rs12579089	0.95[EUR][1000 genomes]
rs12579348	0.88[EUR][1000 genomes]
rs12579976	0.88[EUR][1000 genomes]
rs12580092	0.95[EUR][1000 genomes]
rs12580356	0.95[EUR][1000 genomes]
rs12580488	0.91[EUR][1000 genomes]
rs12581205	0.86[EUR][1000 genomes]
rs12581311	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12581366	0.95[EUR][1000 genomes]
rs12582013	0.91[EUR][1000 genomes]
rs12582056	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12582476	0.95[EUR][1000 genomes]
rs17096991	0.93[EUR][1000 genomes]
rs17096995	0.88[EUR][1000 genomes]
rs17097002	0.83[EUR][1000 genomes]
rs17097009	0.88[EUR][1000 genomes]
rs17097022	0.88[EUR][1000 genomes]
rs17121410	0.93[EUR][1000 genomes]
rs17121412	0.88[EUR][1000 genomes]
rs17594275	0.91[EUR][1000 genomes]
rs17611638	0.95[EUR][1000 genomes]
rs1946175	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2042058	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2193662	0.84[EUR][1000 genomes]
rs2193663	0.88[EUR][1000 genomes]
rs2216439	0.85[EUR][1000 genomes]
rs235600	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs235601	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235607	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs235610	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235616	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs235617	0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs235621	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs235622	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs235625	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs235626	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs235627	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2408576	0.88[EUR][1000 genomes]
rs2408577	0.93[EUR][1000 genomes]
rs2430937	0.93[EUR][1000 genomes]
rs2430939	0.93[EUR][1000 genomes]
rs2430940	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2430941	0.93[EUR][1000 genomes]
rs2430942	0.93[EUR][1000 genomes]
rs2430943	0.93[EUR][1000 genomes]
rs2430946	0.88[EUR][1000 genomes]
rs2430947	0.84[EUR][1000 genomes]
rs2471581	0.81[EUR][1000 genomes]
rs2471583	0.81[EUR][1000 genomes]
rs2471588	0.93[EUR][1000 genomes]
rs2471594	0.93[EUR][1000 genomes]
rs2471601	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2471602	0.93[EUR][1000 genomes]
rs2471605	0.93[EUR][1000 genomes]
rs2471608	0.93[EUR][1000 genomes]
rs2471617	0.93[EUR][1000 genomes]
rs2471618	0.93[EUR][1000 genomes]
rs28768973	0.93[EUR][1000 genomes]
rs2897969	0.84[EUR][1000 genomes]
rs2909411	0.93[EUR][1000 genomes]
rs2960450	0.93[EUR][1000 genomes]
rs34008890	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35096979	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4073924	0.81[EUR][1000 genomes]
rs4604970	0.88[EUR][1000 genomes]
rs4768125	0.86[EUR][1000 genomes]
rs4768741	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4768742	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4768744	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56111534	0.93[EUR][1000 genomes]
rs56152575	0.88[EUR][1000 genomes]
rs56181923	0.88[EUR][1000 genomes]
rs56271434	0.88[EUR][1000 genomes]
rs56399247	0.81[EUR][1000 genomes]
rs57158113	0.81[EUR][1000 genomes]
rs57370043	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57658610	0.93[EUR][1000 genomes]
rs58449317	0.88[EUR][1000 genomes]
rs58503088	0.88[EUR][1000 genomes]
rs58561072	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58813899	0.88[EUR][1000 genomes]
rs59903937	0.88[EUR][1000 genomes]
rs60191997	0.93[EUR][1000 genomes]
rs60432604	0.81[EUR][1000 genomes]
rs60669661	0.88[EUR][1000 genomes]
rs60681792	0.88[EUR][1000 genomes]
rs61072098	0.90[EUR][1000 genomes]
rs61355826	0.93[EUR][1000 genomes]
rs61641663	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7138914	0.88[EUR][1000 genomes]
rs7308386	0.88[EUR][1000 genomes]
rs7310326	0.93[EUR][1000 genomes]
rs7310408	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73282109	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73290381	0.81[EUR][1000 genomes]
rs73290402	0.88[EUR][1000 genomes]
rs73291964	0.88[EUR][1000 genomes]
rs73291976	0.88[EUR][1000 genomes]
rs73291980	0.88[EUR][1000 genomes]
rs73292000	0.88[EUR][1000 genomes]
rs73292001	0.93[EUR][1000 genomes]
rs73293911	0.88[EUR][1000 genomes]
rs73293919	0.88[EUR][1000 genomes]
rs7484802	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7488464	0.93[EUR][1000 genomes]
rs765707	0.88[EUR][1000 genomes]
rs766794	0.95[EUR][1000 genomes]
rs7976710	0.88[EUR][1000 genomes]
rs9669050	0.93[EUR][1000 genomes]
rs977069	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv3416674	chr12:46988689-47178369	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv558783	chr12:46996632-47144856	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv692	chr12:47018472-47049495	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3526580	chr12:47027435-47034283	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3526581	chr12:47027835-47034333	Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv1844378	chr12:47028797-47072016	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv3372339	chr12:47028885-47034683	Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47025400-47034000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr12:47026000-47035200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:47030200-47034000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:47032800-47042000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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