Variant report

Variant	rs12921341
Chromosome Location	chr16:80040583-80040584
allele	G/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	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11645885	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11646780	0.89[EUR][1000 genomes]
rs11647839	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12149105	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12149738	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12923727	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12923732	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12930889	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28425168	0.87[EUR][1000 genomes]
rs35244260	0.93[EUR][1000 genomes]
rs3924082	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3936188	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4073088	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4073089	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4076249	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4076250	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4076251	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4341754	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4381616	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4426358	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4439776	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4445914	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4485384	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4490014	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4505341	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4611478	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4888064	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6564723	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8053769	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8057036	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8063712	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9921198	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9923757	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9923939	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9923943	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9924079	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9924359	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9924378	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9926410	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9927433	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9929759	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9929923	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9930005	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9930157	0.91[AFR][1000 genomes]
rs9931548	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9932265	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9932617	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9934311	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9935292	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9936732	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80039400-80041800	Enhancers	Fetal Stomach	stomach
2	chr16:80039600-80040600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:80039600-80040600	Enhancers	Fetal Muscle Trunk	muscle
4	chr16:80040000-80040600	Enhancers	Fetal Muscle Leg	muscle
5	chr16:80040000-80040600	Enhancers	Ovary	ovary
6	chr16:80040000-80040800	Enhancers	A549	lung
7	chr16:80040000-80041000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr16:80040000-80041000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr16:80040000-80041000	Enhancers	Fetal Intestine Small	intestine
10	chr16:80040000-80041200	Enhancers	Fetal Lung	lung
11	chr16:80040000-80041600	Enhancers	Stomach Smooth Muscle	stomach
12	chr16:80040000-80041800	Enhancers	NH-A	brain
13	chr16:80040200-80040600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr16:80040200-80040600	Flanking Active TSS	Hela-S3	cervix
15	chr16:80040200-80040600	Enhancers	HSMMtube	muscle
16	chr16:80040200-80040600	Flanking Active TSS	K562	blood
17	chr16:80040200-80040600	Flanking Active TSS	NHEK	skin
18	chr16:80040200-80040800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr16:80040200-80040800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr16:80040200-80040800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr16:80040200-80041000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr16:80040200-80041000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr16:80040200-80041000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr16:80040200-80041000	Enhancers	HMEC	breast
25	chr16:80040200-80041600	Enhancers	Rectal Smooth Muscle	rectum
26	chr16:80040200-80041800	Enhancers	Colon Smooth Muscle	Colon
27	chr16:80040400-80040600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr16:80040400-80041000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr16:80040400-80057200	Weak transcription	Esophagus	oesophagus

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