Variant report

Variant	rs4430760
Chromosome Location	chr16:80004773-80004774
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:80004622..80006515-chr16:80014289..80017872,4	K562	blood:
2	chr16:79978107..79980812-chr16:80004750..80007386,2	K562	blood:
3	chr16:79963167..79965243-chr16:80003069..80005139,2	K562	blood:
4	chr16:79998660..80002282-chr16:80003474..80007904,4	K562	blood:
5	chr16:79997764..79999359-chr16:80003629..80005763,2	K562	blood:
6	chr16:80003227..80006077-chr16:80028568..80030981,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11640073	0.82[EUR][1000 genomes]
rs11640447	0.84[EUR][1000 genomes]
rs16951740	0.88[EUR][1000 genomes]
rs16951741	0.88[EUR][1000 genomes]
rs16951780	0.94[EUR][1000 genomes]
rs16951782	0.92[EUR][1000 genomes]
rs16951797	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16951799	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16951801	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16951803	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16951814	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16951838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16951842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16951843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16951873	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16951897	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16951906	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34819814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4243193	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4243195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4300657	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4337307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4337308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4344762	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4371170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4398121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4429310	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4473201	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4474699	0.97[EUR][1000 genomes]
rs4591155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4600478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4600479	1.00[EUR][1000 genomes]
rs4613081	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4643335	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4889057	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4889058	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4889060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55854128	0.82[EUR][1000 genomes]
rs62040147	1.00[EUR][1000 genomes]
rs62040149	0.98[EUR][1000 genomes]
rs62040150	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62040151	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62040152	1.00[EUR][1000 genomes]
rs62040153	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62040154	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62040155	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62040157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62040158	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62040159	1.00[EUR][1000 genomes]
rs62042260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62042261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62042262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62042264	0.97[EUR][1000 genomes]
rs62042286	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62042287	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62042288	0.97[EUR][1000 genomes]
rs62042290	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62042291	0.97[EUR][1000 genomes]
rs62042292	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62042293	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62042294	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62042295	0.97[EUR][1000 genomes]
rs62042296	0.95[EUR][1000 genomes]
rs62042298	0.82[EUR][1000 genomes]
rs62042299	0.82[EUR][1000 genomes]
rs62042300	0.82[EUR][1000 genomes]
rs62042301	0.82[EUR][1000 genomes]
rs62042302	0.82[EUR][1000 genomes]
rs62043708	0.83[EUR][1000 genomes]
rs62043709	0.83[EUR][1000 genomes]
rs62043712	0.88[EUR][1000 genomes]
rs62043714	0.91[EUR][1000 genomes]
rs62043715	0.92[EUR][1000 genomes]
rs62043716	0.91[EUR][1000 genomes]
rs7195573	0.82[EUR][1000 genomes]
rs7204058	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7204532	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74038404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8044242	0.97[EUR][1000 genomes]
rs8044773	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9674229	0.88[EUR][1000 genomes]
rs9788879	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79997000-80006200	Weak transcription	Right Atrium	heart
2	chr16:80000600-80005800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr16:80000600-80006000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr16:80003000-80006000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr16:80003800-80005000	Enhancers	Liver	Liver
6	chr16:80003800-80005200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr16:80004000-80004800	Enhancers	Adipose Nuclei	Adipose
8	chr16:80004000-80004800	Enhancers	Duodenum Mucosa	Duodenum
9	chr16:80004000-80004800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr16:80004000-80004800	Enhancers	Fetal Lung	lung
11	chr16:80004000-80004800	Enhancers	Ovary	ovary
12	chr16:80004000-80005000	Enhancers	Fetal Intestine Small	intestine
13	chr16:80004000-80006600	Flanking Active TSS	K562	blood
14	chr16:80004200-80004800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr16:80004200-80005000	Enhancers	Fetal Intestine Large	intestine
16	chr16:80004400-80004800	Enhancers	Psoas Muscle	Psoas
17	chr16:80004600-80004800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr16:80004600-80004800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr16:80004600-80004800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr16:80004600-80006200	Weak transcription	Placenta Amnion	Placenta Amnion

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