Variant report

Variant	rs28425168
Chromosome Location	chr16:80028497-80028498
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	chr16:80023428..80025745-chr16:80027652..80029521,2	K562	blood:
2	chr16:80027255..80029834-chr16:80031409..80034073,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11645608	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11645885	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11646780	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11647839	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12149105	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12149738	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12921341	0.87[EUR][1000 genomes]
rs12923727	0.85[EUR][1000 genomes]
rs12923732	0.85[EUR][1000 genomes]
rs12930889	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35244260	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3924082	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3936188	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4073088	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4073089	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4076249	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4076250	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4076251	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4341754	0.92[EUR][1000 genomes]
rs4381616	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4426358	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4439776	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4445914	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4485384	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4490014	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4505341	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4611478	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4888064	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6564723	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8053769	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8057036	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8063712	0.89[EUR][1000 genomes]
rs9921198	0.88[EUR][1000 genomes]
rs9923757	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9923939	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9923943	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9924079	0.91[EUR][1000 genomes]
rs9924359	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9924378	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9926410	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9927433	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9929759	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9929923	0.87[EUR][1000 genomes]
rs9930005	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9931548	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9932265	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9932617	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9934311	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9935292	0.88[EUR][1000 genomes]
rs9936732	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80026400-80030600	Weak transcription	Aorta	Aorta
2	chr16:80026600-80028600	Enhancers	Duodenum Mucosa	Duodenum
3	chr16:80026800-80030800	Enhancers	Fetal Intestine Large	intestine
4	chr16:80027000-80029000	Enhancers	Fetal Intestine Small	intestine
5	chr16:80027200-80029000	Enhancers	Brain Cingulate Gyrus	brain
6	chr16:80027400-80029600	Enhancers	Brain Substantia Nigra	brain
7	chr16:80027600-80028800	Enhancers	Brain Anterior Caudate	brain
8	chr16:80027600-80029000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr16:80027600-80029000	Enhancers	Brain Angular Gyrus	brain
10	chr16:80027800-80028600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr16:80027800-80028600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr16:80028000-80028600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:80028000-80028600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr16:80028000-80028600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr16:80028000-80028800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr16:80028000-80028800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr16:80028200-80028600	Enhancers	Brain Germinal Matrix	brain
18	chr16:80028200-80028600	Enhancers	Brain Hippocampus Middle	brain
19	chr16:80028200-80029000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr16:80028200-80030400	Weak transcription	K562	blood
21	chr16:80028200-80040000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr16:80028400-80028600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr16:80028400-80028800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr16:80028400-80029600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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