Variant report

Variant	rs2013784
Chromosome Location	chr22:28923933-28923934
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10084639	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10222318	0.91[EUR][1000 genomes]
rs10483151	0.83[CEU][hapmap]
rs12165715	1.00[CEU][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12165893	1.00[CEU][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12165913	0.85[AFR][1000 genomes]
rs12166245	1.00[CEU][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12166475	1.00[CEU][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12167122	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12167434	0.93[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12167532	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12167614	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12168031	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12168765	1.00[CEU][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12169071	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12169120	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12169232	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12169262	1.00[CEU][hapmap]
rs12169460	1.00[CEU][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12169880	0.94[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12171099	0.87[AFR][1000 genomes]
rs134488	1.00[CEU][hapmap]
rs134506	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs134514	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs134524	1.00[CEU][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs134547	1.00[CEU][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1474961	0.83[CEU][hapmap]
rs16986398	1.00[CEU][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16986509	0.91[CEU][hapmap]
rs17413461	0.83[CEU][hapmap]
rs17507066	0.83[CEU][hapmap]
rs2144922	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2180459	0.86[ASN][1000 genomes]
rs2346866	0.86[ASN][1000 genomes]
rs2881496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28818228	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs5752754	0.88[EUR][1000 genomes]
rs5752756	0.92[ASN][1000 genomes]
rs5762667	0.94[ASN][1000 genomes]
rs5762706	0.86[ASN][1000 genomes]
rs58049055	0.92[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs58542867	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60042154	0.81[AFR][1000 genomes]
rs6005807	0.91[CEU][hapmap];0.86[ASN][1000 genomes]
rs6005809	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60065194	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60248971	0.94[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs60693420	0.94[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6519758	0.92[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs695289	0.89[ASN][1000 genomes]
rs695294	0.86[ASN][1000 genomes]
rs695305	0.89[ASN][1000 genomes]
rs695344	0.89[ASN][1000 genomes]
rs695346	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs695365	0.86[ASN][1000 genomes]
rs695442	0.89[ASN][1000 genomes]
rs695529	0.81[ASN][1000 genomes]
rs695555	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs695571	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs695575	0.86[ASN][1000 genomes]
rs695580	0.89[ASN][1000 genomes]
rs695609	0.89[ASN][1000 genomes]
rs695626	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs695627	0.89[ASN][1000 genomes]
rs695656	0.89[ASN][1000 genomes]
rs7288792	0.94[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7289534	1.00[CEU][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7289625	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7291268	0.91[CEU][hapmap]
rs7293232	1.00[CEU][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs73430118	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73430168	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73430179	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73430189	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73432205	0.94[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs738200	0.91[CEU][hapmap]
rs8135424	0.86[AFR][1000 genomes]
rs8136767	0.94[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs8136905	0.86[AFR][1000 genomes]
rs8136995	0.94[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs8142681	0.93[AFR][1000 genomes]
rs9306457	0.91[CEU][hapmap]
rs9608696	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs9620797	0.91[CEU][hapmap]
rs9620804	0.91[CEU][hapmap]
rs9620808	1.00[CEU][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9620809	0.86[AFR][1000 genomes]
rs9620810	1.00[CEU][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9620811	1.00[CEU][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9625467	0.91[CEU][hapmap]
rs9625475	0.91[CEU][hapmap];0.96[YRI][hapmap]
rs9625477	0.91[CEU][hapmap]
rs9625478	0.83[CEU][hapmap]
rs9625498	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9625509	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9625512	1.00[CEU][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9625513	1.00[CEU][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9625514	0.92[CEU][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9625516	0.86[AFR][1000 genomes]
rs9625518	0.94[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9625520	1.00[CEU][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9625521	1.00[CEU][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9625522	1.00[CEU][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9625523	1.00[CEU][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9625524	1.00[CEU][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9625534	0.83[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	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv588880	chr22:28807277-29001789	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 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	chr22:28916000-28924400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr22:28916600-28935800	Weak transcription	Fetal Lung	lung
3	chr22:28916600-28937200	Weak transcription	HepG2	liver
4	chr22:28917600-28943200	Weak transcription	Left Ventricle	heart
5	chr22:28918000-28924800	Weak transcription	Fetal Muscle Leg	muscle
6	chr22:28918000-28926000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr22:28918000-28928400	Weak transcription	Ovary	ovary
8	chr22:28919600-28925400	Weak transcription	Fetal Stomach	stomach
9	chr22:28920800-28925200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr22:28923200-28924000	Enhancers	Pancreas	Pancrea
11	chr22:28923400-28924400	Weak transcription	Fetal Intestine Small	intestine
12	chr22:28923400-28940400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr22:28923800-28926000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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