Variant report

Variant	rs6005807
Chromosome Location	chr22:28934313-28934314
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28934195..28936559-chr22:28940613..28943481,2	K562	blood:

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10483151	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs12165708	0.82[EUR][1000 genomes]
rs12165715	0.91[CEU][hapmap];0.81[AMR][1000 genomes]
rs12165893	0.91[CEU][hapmap]
rs12166129	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12166245	0.91[CEU][hapmap]
rs12166363	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12166475	0.91[CEU][hapmap]
rs12167667	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12168765	0.90[CEU][hapmap]
rs12169120	0.81[AMR][1000 genomes]
rs12169262	0.91[CEU][hapmap];0.96[YRI][hapmap]
rs12169460	0.91[CEU][hapmap]
rs12169595	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12169966	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs134506	0.91[CEU][hapmap]
rs134514	0.91[CEU][hapmap];0.83[YRI][hapmap]
rs134524	0.91[CEU][hapmap]
rs134547	0.91[CEU][hapmap]
rs1474961	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs16986398	0.91[CEU][hapmap]
rs16986509	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16986630	1.00[JPT][hapmap]
rs16986646	1.00[JPT][hapmap]
rs17413461	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs17507066	0.91[CEU][hapmap]
rs17882867	1.00[JPT][hapmap]
rs1805129	1.00[JPT][hapmap]
rs2013784	0.91[CEU][hapmap];0.86[ASN][1000 genomes]
rs2144922	0.91[CEU][hapmap];0.86[ASN][1000 genomes]
rs2180459	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2346866	0.89[ASN][1000 genomes]
rs2881496	0.86[ASN][1000 genomes]
rs55738739	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5752756	0.94[ASN][1000 genomes]
rs5762667	0.91[ASN][1000 genomes]
rs5762681	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5762696	1.00[CHB][hapmap]
rs5762706	0.89[ASN][1000 genomes]
rs57871917	0.88[AMR][1000 genomes]
rs59262169	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60042154	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6005809	0.84[AMR][1000 genomes]
rs6519753	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs695289	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs695294	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs695305	0.86[ASN][1000 genomes]
rs695344	0.86[ASN][1000 genomes]
rs695346	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs695365	0.89[ASN][1000 genomes]
rs695442	0.86[ASN][1000 genomes]
rs695529	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs695555	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs695571	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs695575	0.89[ASN][1000 genomes]
rs695580	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs695609	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs695626	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs695627	0.86[ASN][1000 genomes]
rs695656	0.86[ASN][1000 genomes]
rs7289534	0.91[CEU][hapmap]
rs7289625	0.91[CEU][hapmap];0.96[YRI][hapmap]
rs7291268	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7293232	0.91[CEU][hapmap]
rs73430123	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73430136	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73430155	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73430186	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73430189	0.81[AMR][1000 genomes]
rs73437900	0.82[AMR][1000 genomes]
rs73439811	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs738200	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs738627	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8137200	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8137808	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9306457	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9608696	0.91[CEU][hapmap]
rs9620797	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9620799	1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9620803	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9620804	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9620808	0.91[CEU][hapmap]
rs9620809	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9620810	0.91[CEU][hapmap]
rs9620811	0.91[CEU][hapmap]
rs9620817	0.82[CEU][hapmap]
rs9625467	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625475	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9625477	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625478	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs9625481	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625484	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9625487	0.91[EUR][1000 genomes]
rs9625492	0.91[EUR][1000 genomes]
rs9625501	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9625508	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625510	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9625512	0.91[CEU][hapmap]
rs9625513	0.91[CEU][hapmap]
rs9625514	0.84[CEU][hapmap]
rs9625515	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625516	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9625520	0.91[CEU][hapmap]
rs9625521	0.91[CEU][hapmap]
rs9625522	0.91[CEU][hapmap]
rs9625523	0.91[CEU][hapmap]
rs9625524	0.91[CEU][hapmap]
rs9625534	0.91[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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28916600-28935800	Weak transcription	Fetal Lung	lung
2	chr22:28916600-28937200	Weak transcription	HepG2	liver
3	chr22:28917600-28943200	Weak transcription	Left Ventricle	heart
4	chr22:28923400-28940400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr22:28932200-28939000	Weak transcription	Fetal Stomach	stomach
6	chr22:28932600-28939000	Weak transcription	Fetal Intestine Small	intestine
7	chr22:28933600-28953800	Weak transcription	HSMMtube	muscle
8	chr22:28933800-28934400	Enhancers	Placenta	Placenta
9	chr22:28934000-28938800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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