Variant report

Variant	rs12022635
Chromosome Location	chr1:47532614-47532615
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:47531915-47533075	K562	blood:	n/a	n/a

Variant related genes	Relation type
CYP4Z1	TF binding region

Extended variants
information (count: 120 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs1021827	0.82[GIH][hapmap];0.82[MEX][hapmap];0.85[YRI][hapmap]
rs10890445	0.82[GIH][hapmap];0.82[MEX][hapmap];0.85[YRI][hapmap]
rs10890446	0.95[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10890447	0.95[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10890449	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10890452	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10890453	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10890454	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10890455	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10890457	0.89[ASW][hapmap];1.00[CHD][hapmap];0.87[MKK][hapmap];0.88[TSI][hapmap]
rs10890460	0.89[ASW][hapmap];0.83[CHD][hapmap];0.86[MEX][hapmap];0.87[MKK][hapmap];0.86[TSI][hapmap];0.85[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10890462	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10890464	0.89[ASW][hapmap];0.83[CHD][hapmap];0.86[MEX][hapmap];0.83[MKK][hapmap];0.86[TSI][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10890465	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10890466	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10890467	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1110425	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1117514	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211421	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211422	0.88[ASW][hapmap];0.95[CEU][hapmap];0.83[CHD][hapmap];0.98[GIH][hapmap];0.85[MKK][hapmap];0.84[TSI][hapmap];0.96[YRI][hapmap]
rs11211423	0.95[CEU][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211435	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211439	0.94[ASW][hapmap];0.95[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11211442	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11211444	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11211446	0.82[YRI][hapmap]
rs11211450	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11211451	0.89[ASW][hapmap];0.83[CHD][hapmap];0.86[MEX][hapmap];0.87[MKK][hapmap];0.86[TSI][hapmap];0.85[YRI][hapmap]
rs11211454	0.80[EUR][1000 genomes]
rs11211456	0.82[AMR][1000 genomes]
rs11211457	0.82[YRI][hapmap];0.81[EUR][1000 genomes]
rs12037014	0.89[ASW][hapmap];0.83[CHD][hapmap];0.87[MKK][hapmap];0.86[TSI][hapmap];0.85[YRI][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12042073	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12046348	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12124648	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12404496	0.87[ASN][1000 genomes]
rs12564635	0.95[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.89[YRI][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12567857	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12568064	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12732488	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12734327	0.89[ASW][hapmap];0.83[CHD][hapmap];0.86[MEX][hapmap];0.87[MKK][hapmap];0.86[TSI][hapmap];0.85[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12736235	0.94[ASW][hapmap];0.95[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1393659	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1393667	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1502908	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1553391	0.86[AMR][1000 genomes]
rs1847222	0.83[CHD][hapmap];0.86[MEX][hapmap];0.98[MKK][hapmap];0.86[TSI][hapmap];0.82[YRI][hapmap];0.82[EUR][1000 genomes]
rs1847223	0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1847224	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1967756	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1967757	0.89[ASW][hapmap];0.83[CHD][hapmap];0.86[MEX][hapmap];0.86[MKK][hapmap];0.86[TSI][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2016160	0.85[YRI][hapmap]
rs2055500	0.95[CEU][hapmap];0.96[YRI][hapmap]
rs2134471	0.95[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2202219	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2405580	0.95[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2405588	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2494248	0.81[TSI][hapmap]
rs28462300	0.82[AMR][1000 genomes]
rs3117713	0.81[AMR][1000 genomes]
rs35900382	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3850876	0.80[EUR][1000 genomes]
rs4314923	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4375314	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4448558	0.85[YRI][hapmap]
rs4492665	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4598535	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4926773	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4926785	0.89[ASW][hapmap];0.83[CHD][hapmap];0.91[MEX][hapmap];0.86[MKK][hapmap];0.86[TSI][hapmap];0.85[YRI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4926786	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4926787	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4926788	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4926789	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4926791	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4926792	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4926793	0.89[ASW][hapmap];0.83[CHD][hapmap];0.86[MEX][hapmap];0.87[MKK][hapmap];0.86[TSI][hapmap];0.85[YRI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4926797	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4926804	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4926805	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4926806	0.83[AMR][1000 genomes]
rs4926807	0.83[AMR][1000 genomes]
rs4926808	0.83[AMR][1000 genomes]
rs4926809	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4926826	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4926869	0.81[AMR][1000 genomes]
rs6588388	0.81[AMR][1000 genomes]
rs6664392	0.89[ASW][hapmap];0.83[CHD][hapmap];0.86[MEX][hapmap];0.83[MKK][hapmap];0.86[TSI][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6664496	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6669621	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs66753730	0.86[AFR][1000 genomes]
rs6675902	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6683137	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6690005	0.89[ASW][hapmap];0.83[CHD][hapmap];0.86[MEX][hapmap];0.86[MKK][hapmap];0.86[TSI][hapmap];0.85[YRI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6693145	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6701611	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7512729	0.82[AMR][1000 genomes]
rs7519903	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7526674	0.82[EUR][1000 genomes]
rs7540264	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7545399	0.89[ASW][hapmap];0.83[CHD][hapmap];0.86[MEX][hapmap];0.83[MKK][hapmap];0.86[TSI][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes]
rs7547893	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9326151	0.82[GIH][hapmap];0.82[MEX][hapmap];0.85[YRI][hapmap]
rs9326152	0.82[GIH][hapmap];0.85[YRI][hapmap]
rs9326153	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9633421	0.81[EUR][1000 genomes]
rs9659815	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9699932	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9701154	0.95[CEU][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9701868	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9701886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9701899	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9728169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9729662	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9793202	1.00[ASW][hapmap];0.95[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs9793471	0.91[CEU][hapmap];0.83[CHD][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9793711	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9793716	0.95[CEU][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009338	chr1:47358532-47555253	Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2763300	chr1:47358532-47628774	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv916813	chr1:47435635-47666179	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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