Variant report

Variant	rs16986248
Chromosome Location	chr22:28674325-28674326
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	chr22:28658386..28659945-chr22:28672618..28674678,2	MCF-7	breast:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10483141	0.90[AMR][1000 genomes]
rs10483148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483150	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166475	1.00[ASN][1000 genomes]
rs134485	0.81[EUR][1000 genomes]
rs134493	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134498	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134501	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134502	0.85[EUR][1000 genomes]
rs134503	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134504	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134505	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134508	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134509	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134510	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134512	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134513	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134515	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134516	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134521	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134528	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134547	1.00[ASN][1000 genomes]
rs135637	1.00[AMR][1000 genomes]
rs135638	0.90[AMR][1000 genomes]
rs135641	1.00[AMR][1000 genomes]
rs135643	0.90[AMR][1000 genomes]
rs135644	1.00[AMR][1000 genomes]
rs135645	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs135647	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs135649	1.00[AMR][1000 genomes]
rs135655	1.00[AMR][1000 genomes]
rs135659	0.90[AMR][1000 genomes]
rs16985862	0.91[AMR][1000 genomes]
rs16985870	0.91[AMR][1000 genomes]
rs16985909	0.91[AMR][1000 genomes]
rs16985925	1.00[AMR][1000 genomes]
rs16985933	1.00[AMR][1000 genomes]
rs16985951	1.00[AMR][1000 genomes]
rs16986244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986266	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986288	1.00[ASN][1000 genomes]
rs16986311	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986314	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986400	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986433	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986438	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986451	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986469	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986502	0.95[EUR][1000 genomes]
rs17483227	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17483998	0.80[AMR][1000 genomes]
rs2038286	1.00[AMR][1000 genomes]
rs2881204	1.00[AMR][1000 genomes]
rs55868187	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5752697	0.90[AMR][1000 genomes]
rs5762573	0.95[EUR][1000 genomes]
rs5762574	0.81[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	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs79107	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs79111	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625498	1.00[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:10 , 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	chr22:28664400-28674800	Weak transcription	NHDF-Ad	bronchial
4	chr22:28665600-28677600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr22:28666200-28691000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:28672000-28681000	Weak transcription	Fetal Lung	lung
7	chr22:28672200-28678400	Weak transcription	Fetal Stomach	stomach
8	chr22:28672400-28679800	Weak transcription	Psoas Muscle	Psoas
9	chr22:28672800-28678800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr22:28674200-28679000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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