Variant report

Variant	rs2016345
Chromosome Location	chr19:44355801-44355802
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	chr19:44341545..44343672-chr19:44355013..44357623,2	K562	blood:
2	chr19:44355034..44358030-chr19:44358600..44360589,3	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1036246	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10405318	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10408461	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10412955	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10415344	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10416116	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10421861	0.89[EUR][1000 genomes]
rs10500286	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10500287	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11878787	0.93[ASN][1000 genomes]
rs11879541	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11880651	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12462507	0.92[ASN][1000 genomes]
rs12608578	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13344589	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1549953	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1549954	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1549955	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1549956	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1549957	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1549959	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1565057	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17712224	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1909	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1964381	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1994414	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1994415	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1994416	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2099356	0.92[ASN][1000 genomes]
rs2163855	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2195981	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2217669	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2356401	0.95[ASN][1000 genomes]
rs2356403	0.95[ASN][1000 genomes]
rs2356432	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2356433	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2356434	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2356438	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2356439	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs239948	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs239949	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs349032	0.94[ASN][1000 genomes]
rs4511643	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57096959	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57133938	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59503823	0.87[ASN][1000 genomes]
rs60036744	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60085895	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62114569	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62118368	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62118369	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62118371	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62118372	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6509120	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7247308	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7247863	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7248807	0.90[ASN][1000 genomes]
rs7249057	0.93[ASN][1000 genomes]
rs7253002	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7253384	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7253606	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7254659	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7259647	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73052639	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73052665	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7508701	0.94[ASN][1000 genomes]
rs8099861	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8106802	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8112065	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8113286	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv458710	chr19:44339960-44410846	Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv579853	chr19:44339960-44410846	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv524460	chr19:44352688-44372015	Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2016345	ZNF283,ZNF225	cis	brain	BrainEAC

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44332800-44357200	ZNF genes & repeats	Liver	Liver
2	chr19:44333600-44357400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:44335200-44357200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr19:44335200-44368200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:44335400-44357200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
6	chr19:44335400-44366600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr19:44336600-44357600	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr19:44336800-44356800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
9	chr19:44336800-44357200	ZNF genes & repeats	Fetal Lung	lung
10	chr19:44339200-44357200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr19:44341000-44357200	ZNF genes & repeats	Brain Anterior Caudate	brain
12	chr19:44341200-44357200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr19:44348600-44357000	ZNF genes & repeats	Fetal Brain Female	brain
14	chr19:44349200-44357200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr19:44350400-44356200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr19:44350400-44357000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
17	chr19:44350400-44357200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
18	chr19:44350600-44356800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr19:44350600-44357000	ZNF genes & repeats	Brain Hippocampus Middle	brain
20	chr19:44350600-44357200	ZNF genes & repeats	Brain Germinal Matrix	brain
21	chr19:44350600-44357200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
22	chr19:44353800-44357600	ZNF genes & repeats	Left Ventricle	heart
23	chr19:44354200-44357200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
24	chr19:44354200-44357200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr19:44354200-44358200	ZNF genes & repeats	Psoas Muscle	Psoas
26	chr19:44354600-44356200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr19:44355000-44356600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr19:44355000-44356600	Weak transcription	Esophagus	oesophagus
29	chr19:44355000-44357000	Weak transcription	Pancreas	Pancrea
30	chr19:44355400-44356200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr19:44355400-44356600	Weak transcription	Brain Angular Gyrus	brain
32	chr19:44355600-44356400	Weak transcription	Ovary	ovary
33	chr19:44355600-44356600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr19:44355600-44359200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr19:44355800-44356600	Weak transcription	Fetal Heart	heart

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