Variant report

Variant	rs2471583
Chromosome Location	chr12:46921611-46921612
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46921090..46923425-chr12:46940869..46943856,2	K562	blood:
2	chr12:46912625..46916029-chr12:46919758..46923382,3	K562	blood:
3	chr12:46765148..46767393-chr12:46920734..46922809,2	K562	blood:
4	chr12:46763378..46766035-chr12:46920591..46922521,2	K562	blood:

Variant related genes	Relation type
ENSG00000258096	Chromatin interaction
ENSG00000134294	Chromatin interaction

Extended variants
information (count: 146 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:142)

rs_ID	r²[population]
rs10785631	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10880975	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10880976	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.92[YRI][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10880977	0.86[ASW][hapmap];1.00[CEU][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10880980	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183464	1.00[CEU][hapmap]
rs11183497	1.00[CEU][hapmap]
rs11183507	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11183524	0.88[EUR][1000 genomes]
rs11183527	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs11183536	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11183539	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11183547	0.81[EUR][1000 genomes]
rs11183550	0.81[EUR][1000 genomes]
rs11504523	0.85[EUR][1000 genomes]
rs11829502	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs11830099	0.93[EUR][1000 genomes]
rs11830501	0.93[EUR][1000 genomes]
rs11831177	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs11831920	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11831929	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11832316	0.93[EUR][1000 genomes]
rs11833393	0.88[EUR][1000 genomes]
rs11834607	0.88[EUR][1000 genomes]
rs11835517	0.93[EUR][1000 genomes]
rs11835974	0.93[EUR][1000 genomes]
rs11836915	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[EUR][1000 genomes]
rs11836940	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11837104	0.93[EUR][1000 genomes]
rs12300125	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12301825	0.87[MEX][hapmap]
rs12305921	1.00[CEU][hapmap]
rs12310635	0.86[ASN][1000 genomes]
rs12578813	0.85[EUR][1000 genomes]
rs12579089	0.85[EUR][1000 genomes]
rs12579348	0.93[EUR][1000 genomes]
rs12579976	0.93[EUR][1000 genomes]
rs12580092	0.83[EUR][1000 genomes]
rs12580121	1.00[CEU][hapmap]
rs12580356	0.85[EUR][1000 genomes]
rs12580488	0.82[EUR][1000 genomes]
rs12581311	0.82[EUR][1000 genomes]
rs12581366	0.85[EUR][1000 genomes]
rs12582013	0.82[EUR][1000 genomes]
rs12582056	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs12582476	0.85[EUR][1000 genomes]
rs17096991	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17096995	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17097002	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17097009	0.93[EUR][1000 genomes]
rs17097022	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17121410	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17121412	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17594275	0.82[EUR][1000 genomes]
rs17611638	0.85[EUR][1000 genomes]
rs1946175	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2042058	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs2193662	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2193663	0.93[EUR][1000 genomes]
rs2216439	0.90[EUR][1000 genomes]
rs235601	0.81[EUR][1000 genomes]
rs235602	0.81[EUR][1000 genomes]
rs235607	1.00[CEU][hapmap];0.81[JPT][hapmap]
rs235610	0.81[EUR][1000 genomes]
rs235617	1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap]
rs235621	1.00[CEU][hapmap]
rs235622	1.00[CEU][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap];0.82[MEX][hapmap]
rs235626	1.00[CEU][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap];0.82[MEX][hapmap]
rs2408576	0.93[EUR][1000 genomes]
rs2408577	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2430937	0.88[EUR][1000 genomes]
rs2430939	0.88[EUR][1000 genomes]
rs2430940	0.92[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2430941	0.88[EUR][1000 genomes]
rs2430942	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2430943	0.88[EUR][1000 genomes]
rs2430946	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2430947	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2471581	1.00[EUR][1000 genomes]
rs2471588	0.88[EUR][1000 genomes]
rs2471594	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2471601	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2471602	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2471605	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2471608	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2471617	0.88[EUR][1000 genomes]
rs2471618	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs28768973	0.88[EUR][1000 genomes]
rs2897969	0.89[EUR][1000 genomes]
rs2909411	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2960450	0.88[EUR][1000 genomes]
rs4073924	1.00[EUR][1000 genomes]
rs4604970	0.93[EUR][1000 genomes]
rs4768124	0.82[MEX][hapmap]
rs4768125	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4768731	0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4768735	0.93[LWK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs4768741	1.00[CEU][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap];0.82[MEX][hapmap]
rs4768744	1.00[CEU][hapmap]
rs56152575	0.93[EUR][1000 genomes]
rs56181923	0.93[EUR][1000 genomes]
rs56271434	0.93[EUR][1000 genomes]
rs56399247	1.00[EUR][1000 genomes]
rs57158113	1.00[EUR][1000 genomes]
rs57439008	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57658610	0.88[EUR][1000 genomes]
rs58449317	0.93[EUR][1000 genomes]
rs58503088	0.93[EUR][1000 genomes]
rs58813899	0.93[EUR][1000 genomes]
rs59521025	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59903937	0.93[EUR][1000 genomes]
rs60191997	0.88[EUR][1000 genomes]
rs60432604	1.00[EUR][1000 genomes]
rs60669661	0.93[EUR][1000 genomes]
rs60681792	0.93[EUR][1000 genomes]
rs61072098	0.84[EUR][1000 genomes]
rs61355826	0.88[EUR][1000 genomes]
rs6582666	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7138914	0.93[EUR][1000 genomes]
rs7295471	0.86[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7302876	0.98[EUR][1000 genomes]
rs7308386	0.93[EUR][1000 genomes]
rs7310326	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs73290364	0.81[EUR][1000 genomes]
rs73290381	1.00[EUR][1000 genomes]
rs73290402	0.93[EUR][1000 genomes]
rs73291964	0.93[EUR][1000 genomes]
rs73291976	0.93[EUR][1000 genomes]
rs73291980	0.93[EUR][1000 genomes]
rs73292000	0.93[EUR][1000 genomes]
rs73292001	0.88[EUR][1000 genomes]
rs73293911	0.93[EUR][1000 genomes]
rs73293919	0.93[EUR][1000 genomes]
rs74085431	0.85[EUR][1000 genomes]
rs7488464	0.88[EUR][1000 genomes]
rs765707	0.93[EUR][1000 genomes]
rs766794	0.85[EUR][1000 genomes]
rs7976710	0.93[EUR][1000 genomes]
rs9669050	0.88[EUR][1000 genomes]
rs977069	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs9783500	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9971651	1.00[CEU][hapmap]

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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46911600-46922800	Weak transcription	Primary B cells from cord blood	blood
2	chr12:46911800-46921800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr12:46918000-46924800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:46918400-46924200	Weak transcription	Right Ventricle	heart
5	chr12:46918800-46925000	Weak transcription	NHEK	skin
6	chr12:46919000-46922000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:46919000-46922600	Weak transcription	Pancreas	Pancrea
8	chr12:46919000-46924800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:46919200-46929800	Weak transcription	A549	lung
10	chr12:46919400-46929400	Weak transcription	Right Atrium	heart
11	chr12:46919600-46924000	Weak transcription	Fetal Stomach	stomach
12	chr12:46919800-46927600	Weak transcription	Fetal Heart	heart
13	chr12:46920000-46929600	Weak transcription	Left Ventricle	heart

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