Variant report

Variant	rs6005751
Chromosome Location	chr22:28675783-28675784
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12157518	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12160232	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16986103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16986290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16986377	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs16986462	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2345714	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28462248	0.88[ASN][1000 genomes]
rs55961693	0.88[ASN][1000 genomes]
rs58427200	0.95[ASN][1000 genomes]
rs5997341	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5997355	0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs5997363	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs5997365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs5997367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs5997369	0.95[ASN][1000 genomes]
rs5997372	0.90[ASN][1000 genomes]
rs6005697	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6005724	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6005726	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6005733	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6005735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6005757	0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs6005758	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005765	1.00[ASN][1000 genomes]
rs6005779	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6005783	1.00[CEU][hapmap]
rs6005789	0.93[ASN][1000 genomes]
rs6005793	0.90[ASN][1000 genomes]
rs73427747	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73428082	0.95[ASN][1000 genomes]
rs73428096	0.95[ASN][1000 genomes]
rs73430108	0.95[ASN][1000 genomes]
rs7510988	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv459866	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv588879	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 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	chr22:28651800-28690600	Weak transcription	Dnd41	blood
2	chr22:28657000-28691600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr22:28665600-28677600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr22:28666200-28691000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:28672000-28681000	Weak transcription	Fetal Lung	lung
6	chr22:28672200-28678400	Weak transcription	Fetal Stomach	stomach
7	chr22:28672400-28679800	Weak transcription	Psoas Muscle	Psoas
8	chr22:28672800-28678800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr22:28674200-28679000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr22:28674600-28676600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr22:28675400-28676200	Enhancers	NHDF-Ad	bronchial
12	chr22:28675600-28675800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr22:28675600-28676000	Enhancers	NHLF	lung

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