Variant report

Variant	rs62042302
Chromosome Location	chr16:80020804-80020805
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80019688..80022858-chr16:80044337..80047415,3	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10514477	0.94[EUR][1000 genomes]
rs11640073	1.00[EUR][1000 genomes]
rs11640447	0.97[EUR][1000 genomes]
rs16951799	0.82[EUR][1000 genomes]
rs16951801	0.82[EUR][1000 genomes]
rs16951814	0.82[EUR][1000 genomes]
rs16951838	0.82[EUR][1000 genomes]
rs16951842	0.82[EUR][1000 genomes]
rs16951843	0.82[EUR][1000 genomes]
rs16951873	0.84[EUR][1000 genomes]
rs16951897	0.84[EUR][1000 genomes]
rs16951906	0.84[EUR][1000 genomes]
rs16951938	0.98[ASN][1000 genomes]
rs34819814	0.82[EUR][1000 genomes]
rs4243193	0.82[EUR][1000 genomes]
rs4243195	0.82[EUR][1000 genomes]
rs4300657	0.82[EUR][1000 genomes]
rs4337307	0.82[EUR][1000 genomes]
rs4337308	0.82[EUR][1000 genomes]
rs4344762	0.82[EUR][1000 genomes]
rs4371170	0.82[EUR][1000 genomes]
rs4398121	0.82[EUR][1000 genomes]
rs4429310	0.82[EUR][1000 genomes]
rs4430760	0.82[EUR][1000 genomes]
rs4473201	0.84[EUR][1000 genomes]
rs4474699	0.84[EUR][1000 genomes]
rs4591155	0.82[EUR][1000 genomes]
rs4600478	0.82[EUR][1000 genomes]
rs4600479	0.82[EUR][1000 genomes]
rs4613081	0.82[EUR][1000 genomes]
rs4643335	0.82[EUR][1000 genomes]
rs4889060	0.82[EUR][1000 genomes]
rs4889063	0.98[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs58399708	0.85[EUR][1000 genomes]
rs62040147	0.82[EUR][1000 genomes]
rs62040149	0.80[EUR][1000 genomes]
rs62040150	0.80[EUR][1000 genomes]
rs62040151	0.82[EUR][1000 genomes]
rs62040152	0.82[EUR][1000 genomes]
rs62040153	0.82[EUR][1000 genomes]
rs62040154	0.82[EUR][1000 genomes]
rs62040155	0.82[EUR][1000 genomes]
rs62040157	0.82[EUR][1000 genomes]
rs62040158	0.82[EUR][1000 genomes]
rs62040159	0.82[EUR][1000 genomes]
rs62042260	0.82[EUR][1000 genomes]
rs62042261	0.82[EUR][1000 genomes]
rs62042262	0.82[EUR][1000 genomes]
rs62042264	0.84[EUR][1000 genomes]
rs62042286	0.84[EUR][1000 genomes]
rs62042287	0.84[EUR][1000 genomes]
rs62042288	0.84[EUR][1000 genomes]
rs62042290	0.82[EUR][1000 genomes]
rs62042291	0.84[EUR][1000 genomes]
rs62042292	0.82[EUR][1000 genomes]
rs62042293	0.84[EUR][1000 genomes]
rs62042294	0.84[EUR][1000 genomes]
rs62042295	0.84[EUR][1000 genomes]
rs62042296	0.83[EUR][1000 genomes]
rs62042298	1.00[EUR][1000 genomes]
rs62042299	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62042300	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62042301	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62042303	0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs62042304	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62042323	0.97[EUR][1000 genomes]
rs7190101	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7192124	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7195573	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7204058	0.82[EUR][1000 genomes]
rs7204532	0.82[EUR][1000 genomes]
rs74038404	0.82[EUR][1000 genomes]
rs8044242	0.84[EUR][1000 genomes]
rs8044773	0.84[EUR][1000 genomes]
rs8053286	0.87[EUR][1000 genomes]
rs9319546	0.94[EUR][1000 genomes]
rs9788812	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9788879	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9788937	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80020000-80021400	Enhancers	Fetal Muscle Leg	muscle
2	chr16:80020600-80022800	Weak transcription	Fetal Lung	lung
3	chr16:80020800-80022000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr16:80020800-80022000	Weak transcription	HSMMtube	muscle
5	chr16:80020800-80022600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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