Variant report

Variant	rs62042262
Chromosome Location	chr16:80006389-80006390
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:80005070..80008604-chr16:80010257..80012761,6	K562	blood:
2	chr16:80005028..80007365-chr16:80012066..80013670,2	K562	blood:
3	chr16:79998134..80000055-chr16:80005510..80007697,2	MCF-7	breast:
4	chr16:80004622..80006515-chr16:80014289..80017872,4	K562	blood:
5	chr16:79978107..79980812-chr16:80004750..80007386,2	K562	blood:
6	chr16:79870162..79872603-chr16:80005430..80007622,2	K562	blood:
7	chr16:80006211..80008346-chr16:80008458..80011318,2	K562	blood:
8	chr16:79998660..80002282-chr16:80003474..80007904,4	K562	blood:

No data

Extended variants
information (count: 84 )
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];0.92[ASN][1000 genomes]
rs16951799	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16951801	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16951803	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16951814	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16951838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16951842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16951843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16951873	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16951897	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16951906	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34819814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4243193	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4243195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4300657	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4337307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4337308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4344762	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4371170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4398121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4429310	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4430760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4473201	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[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];1.00[ASN][1000 genomes]
rs4600478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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];0.86[ASN][1000 genomes]
rs4643335	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4889057	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4889058	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4889060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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];0.92[ASN][1000 genomes]
rs62040151	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[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];0.92[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];0.95[ASN][1000 genomes]
rs62040157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62040158	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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];1.00[ASN][1000 genomes]
rs62042261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62042264	0.97[EUR][1000 genomes]
rs62042286	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62042287	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62042288	0.97[EUR][1000 genomes]
rs62042290	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[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];0.85[ASN][1000 genomes]
rs62042293	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62042294	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[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];0.93[ASN][1000 genomes]
rs7204532	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74038404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8044242	0.97[EUR][1000 genomes]
rs8044773	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9674229	0.88[EUR][1000 genomes]
rs9788879	0.82[EUR][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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80004000-80006600	Flanking Active TSS	K562	blood
2	chr16:80005600-80006400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr16:80005800-80006400	Enhancers	Primary hematopoietic stem cells	blood
4	chr16:80005800-80006600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr16:80005800-80006800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr16:80006000-80006400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr16:80006000-80006400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr16:80006000-80006400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr16:80006000-80006600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr16:80006000-80006600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr16:80006000-80006600	Enhancers	HSMMtube	muscle
12	chr16:80006200-80006400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr16:80006200-80006400	Enhancers	Psoas Muscle	Psoas
14	chr16:80006200-80006400	Enhancers	Right Atrium	heart
15	chr16:80006200-80006600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr16:80006200-80006600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr16:80006200-80006600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr16:80006200-80006600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr16:80006200-80006600	Enhancers	Placenta Amnion	Placenta Amnion
20	chr16:80006200-80006600	Enhancers	HSMM	muscle

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