Variant report

Variant	rs16986311
Chromosome Location	chr22:28718370-28718371
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	chr22:28716762..28719627-chr22:28834763..28836583,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10483148	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483150	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166475	1.00[ASN][1000 genomes]
rs134485	0.86[EUR][1000 genomes]
rs134493	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134498	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134501	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134502	0.90[EUR][1000 genomes]
rs134503	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134504	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134505	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134508	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134509	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134510	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134512	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134513	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134515	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134516	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134521	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134528	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134547	1.00[ASN][1000 genomes]
rs135649	0.84[EUR][1000 genomes]
rs135655	0.84[EUR][1000 genomes]
rs135659	0.84[EUR][1000 genomes]
rs16986244	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986248	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986251	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986254	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986257	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986266	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986288	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986314	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986400	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986433	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986438	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986451	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986469	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986502	1.00[EUR][1000 genomes]
rs35438111	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762573	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs5762574	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6519751	1.00[ASN][1000 genomes]
rs6519752	1.00[ASN][1000 genomes]
rs7289625	1.00[ASN][1000 genomes]
rs73430118	1.00[ASN][1000 genomes]
rs79104	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs79107	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs79111	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625498	1.00[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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28711000-28718400	Weak transcription	Stomach Mucosa	stomach
2	chr22:28711000-28719600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr22:28712000-28718800	Weak transcription	Gastric	stomach
4	chr22:28712200-28725600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr22:28716400-28722600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr22:28717200-28726400	Weak transcription	Brain Germinal Matrix	brain
7	chr22:28717600-28718800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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