Variant report

Variant	rs6005758
Chromosome Location	chr22:28719080-28719081
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28716762..28719627-chr22:28834763..28836583,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12157518	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12159502	1.00[AMR][1000 genomes]
rs16986103	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16986290	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16986377	0.95[ASN][1000 genomes]
rs16986462	0.95[ASN][1000 genomes]
rs16986548	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2345714	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28462248	0.88[ASN][1000 genomes]
rs35731009	0.82[ASN][1000 genomes]
rs55961693	0.88[ASN][1000 genomes]
rs58427200	0.95[ASN][1000 genomes]
rs5997341	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5997355	0.90[ASN][1000 genomes]
rs5997363	0.90[ASN][1000 genomes]
rs5997365	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs5997367	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs5997369	0.95[ASN][1000 genomes]
rs5997372	0.90[ASN][1000 genomes]
rs6005724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6005726	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6005733	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6005735	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6005751	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005757	0.90[ASN][1000 genomes]
rs6005765	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6005779	0.93[ASN][1000 genomes]
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	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]

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	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
4	nsv526760	chr22:28706220-28719656	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28711000-28719600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr22:28712200-28725600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr22:28716400-28722600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr22:28717200-28726400	Weak transcription	Brain Germinal Matrix	brain
5	chr22:28718400-28719200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr22:28718800-28719200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr22:28718800-28719200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr22:28718800-28719400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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