Variant report

Variant	rs62042296
Chromosome Location	chr16:80016014-80016015
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	chr16:80004622..80006515-chr16:80014289..80017872,4	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs11640073	0.83[EUR][1000 genomes]
rs11640447	0.86[EUR][1000 genomes]
rs16951740	0.83[EUR][1000 genomes]
rs16951741	0.83[EUR][1000 genomes]
rs16951780	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16951782	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16951797	0.92[EUR][1000 genomes]
rs16951799	0.95[EUR][1000 genomes]
rs16951801	0.95[EUR][1000 genomes]
rs16951803	0.92[EUR][1000 genomes]
rs16951814	0.95[EUR][1000 genomes]
rs16951838	0.95[EUR][1000 genomes]
rs16951842	0.95[EUR][1000 genomes]
rs16951843	0.95[EUR][1000 genomes]
rs16951873	0.98[EUR][1000 genomes]
rs16951897	0.98[EUR][1000 genomes]
rs16951906	0.98[EUR][1000 genomes]
rs34819814	0.95[EUR][1000 genomes]
rs4243193	0.95[EUR][1000 genomes]
rs4243195	0.95[EUR][1000 genomes]
rs4300657	0.95[EUR][1000 genomes]
rs4337307	0.95[EUR][1000 genomes]
rs4337308	0.95[EUR][1000 genomes]
rs4344762	0.95[EUR][1000 genomes]
rs4371170	0.95[EUR][1000 genomes]
rs4398121	0.95[EUR][1000 genomes]
rs4429310	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4430760	0.95[EUR][1000 genomes]
rs4473201	0.98[EUR][1000 genomes]
rs4474699	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4591155	0.95[EUR][1000 genomes]
rs4600478	0.95[EUR][1000 genomes]
rs4600479	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4613081	0.95[EUR][1000 genomes]
rs4643335	0.95[EUR][1000 genomes]
rs4889057	0.89[EUR][1000 genomes]
rs4889058	0.91[EUR][1000 genomes]
rs4889060	0.95[EUR][1000 genomes]
rs4889063	0.81[EUR][1000 genomes]
rs62040147	0.95[EUR][1000 genomes]
rs62040149	0.94[EUR][1000 genomes]
rs62040150	0.94[EUR][1000 genomes]
rs62040151	0.95[EUR][1000 genomes]
rs62040152	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62040153	0.95[EUR][1000 genomes]
rs62040154	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62040155	0.95[EUR][1000 genomes]
rs62040157	0.95[EUR][1000 genomes]
rs62040158	0.95[EUR][1000 genomes]
rs62040159	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62042260	0.95[EUR][1000 genomes]
rs62042261	0.95[EUR][1000 genomes]
rs62042262	0.95[EUR][1000 genomes]
rs62042264	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62042286	0.98[EUR][1000 genomes]
rs62042287	0.98[EUR][1000 genomes]
rs62042288	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62042290	0.95[EUR][1000 genomes]
rs62042291	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62042292	0.95[EUR][1000 genomes]
rs62042293	0.98[EUR][1000 genomes]
rs62042294	0.98[EUR][1000 genomes]
rs62042295	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62042298	0.83[EUR][1000 genomes]
rs62042299	0.83[EUR][1000 genomes]
rs62042300	0.83[EUR][1000 genomes]
rs62042301	0.83[EUR][1000 genomes]
rs62042302	0.83[EUR][1000 genomes]
rs62042323	0.83[EUR][1000 genomes]
rs62043712	0.83[EUR][1000 genomes]
rs62043714	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62043715	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62043716	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7195573	0.83[EUR][1000 genomes]
rs7204058	0.95[EUR][1000 genomes]
rs7204532	0.95[EUR][1000 genomes]
rs74038404	0.95[EUR][1000 genomes]
rs8044242	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8044773	0.98[EUR][1000 genomes]
rs9674229	0.83[EUR][1000 genomes]
rs9788812	0.81[EUR][1000 genomes]
rs9788879	0.83[EUR][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	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
3	esv3360836	chr16:80013751-80018049	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80013200-80016200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr16:80013800-80016600	Enhancers	Brain Substantia Nigra	brain
3	chr16:80014200-80016400	Enhancers	Brain Hippocampus Middle	brain
4	chr16:80014400-80016200	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr16:80014400-80016400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr16:80014400-80017000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr16:80014600-80016400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr16:80014600-80016400	Enhancers	Brain Anterior Caudate	brain
9	chr16:80014600-80016600	Enhancers	Brain Cingulate Gyrus	brain
10	chr16:80015000-80016200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:80015000-80016600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr16:80015200-80016400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:80015400-80020000	Weak transcription	HMEC	breast
14	chr16:80015600-80016200	Enhancers	Brain Angular Gyrus	brain
15	chr16:80015800-80016800	Enhancers	Fetal Brain Female	brain
16	chr16:80015800-80017000	Enhancers	Fetal Brain Male	brain

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