Variant report

Variant	rs9923939
Chromosome Location	chr16:80040888-80040889
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:80040033..80042042-chr16:80061174..80063546,2	K562	blood:
2	chr16:80040089..80044174-chr16:80060281..80063913,4	MCF-7	breast:
3	chr16:80036287..80041295-chr16:80046094..80052714,5	K562	blood:

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

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11645608	0.94[EUR][1000 genomes]
rs11645885	0.94[EUR][1000 genomes]
rs11646780	0.84[EUR][1000 genomes]
rs11647839	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12149105	0.92[EUR][1000 genomes]
rs12149738	0.93[EUR][1000 genomes]
rs12921341	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12923727	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12923732	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12930889	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28425168	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35244260	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3924082	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3936188	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4073088	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4073089	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4076249	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4076250	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4076251	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4341754	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4381616	0.89[EUR][1000 genomes]
rs4426358	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4439776	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4445914	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4485384	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4490014	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4505341	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4611478	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4888064	0.94[EUR][1000 genomes]
rs6564723	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8053769	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8057036	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8063712	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9921198	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9923757	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9923943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9924079	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9924359	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9924378	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9926410	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9927433	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9929759	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9929923	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9930005	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9930157	0.90[AFR][1000 genomes]
rs9931548	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9932265	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9932617	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9934311	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9935292	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9936732	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv573294	chr16:80005642-80131944	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80039400-80041800	Enhancers	Fetal Stomach	stomach
2	chr16:80040000-80041000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr16:80040000-80041000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr16:80040000-80041000	Enhancers	Fetal Intestine Small	intestine
5	chr16:80040000-80041200	Enhancers	Fetal Lung	lung
6	chr16:80040000-80041600	Enhancers	Stomach Smooth Muscle	stomach
7	chr16:80040000-80041800	Enhancers	NH-A	brain
8	chr16:80040200-80041000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr16:80040200-80041000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr16:80040200-80041000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr16:80040200-80041000	Enhancers	HMEC	breast
12	chr16:80040200-80041600	Enhancers	Rectal Smooth Muscle	rectum
13	chr16:80040200-80041800	Enhancers	Colon Smooth Muscle	Colon
14	chr16:80040400-80041000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr16:80040400-80057200	Weak transcription	Esophagus	oesophagus
16	chr16:80040600-80041000	Enhancers	K562	blood
17	chr16:80040600-80041000	Enhancers	NHEK	skin
18	chr16:80040600-80041200	Enhancers	Hela-S3	cervix
19	chr16:80040600-80041600	Enhancers	Placenta Amnion	Placenta Amnion
20	chr16:80040600-80043400	Weak transcription	Ovary	ovary
21	chr16:80040800-80041400	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr16:80040800-80043400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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