Variant report

Variant	rs17706584
Chromosome Location	chr19:36570905-36570906
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs17639414	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17851502	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs45567532	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4806263	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4806267	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4806274	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55884522	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56185833	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57658467	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57893103	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58995551	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59832408	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60078822	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61494900	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61496921	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62109714	0.87[EUR][1000 genomes]
rs62109742	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62109747	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62109749	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62109752	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62109756	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62109757	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62109758	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62111360	0.95[EUR][1000 genomes]
rs62111361	0.95[EUR][1000 genomes]
rs62111377	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6510515	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8103791	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8113579	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv833815	chr19:36519803-36624936	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2752541	chr19:36563057-36690874	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17706584	WDR62	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36546400-36577600	Weak transcription	Esophagus	oesophagus
2	chr19:36546400-36584000	Weak transcription	Right Atrium	heart
3	chr19:36546600-36572400	Weak transcription	Lung	lung
4	chr19:36546600-36602200	Weak transcription	Colonic Mucosa	Colon
5	chr19:36546600-36604800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr19:36546800-36572000	Weak transcription	Primary T cells from cord blood	blood
7	chr19:36546800-36572800	Weak transcription	Primary B cells from cord blood	blood
8	chr19:36546800-36572800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr19:36546800-36580200	Weak transcription	Fetal Kidney	kidney
10	chr19:36546800-36588000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr19:36546800-36592200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr19:36546800-36601400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr19:36547600-36584200	Weak transcription	Fetal Heart	heart
14	chr19:36548200-36596400	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr19:36548400-36571000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr19:36552000-36572400	Weak transcription	Liver	Liver
17	chr19:36555000-36593000	Weak transcription	Fetal Lung	lung
18	chr19:36556000-36601600	Weak transcription	Pancreas	Pancrea
19	chr19:36558200-36572400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr19:36558800-36574000	Weak transcription	Gastric	stomach
21	chr19:36559000-36572400	Weak transcription	Placenta	Placenta
22	chr19:36559200-36572600	Weak transcription	Fetal Brain Female	brain
23	chr19:36559200-36572800	Weak transcription	Brain Germinal Matrix	brain
24	chr19:36560400-36580200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr19:36561000-36572200	Weak transcription	Fetal Intestine Large	intestine
26	chr19:36561200-36571000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr19:36561200-36587800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:36561200-36597600	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr19:36561200-36597600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr19:36561200-36597600	Strong transcription	Dnd41	blood
31	chr19:36561200-36598200	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr19:36561200-36598400	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr19:36561400-36587800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr19:36561400-36596400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr19:36561400-36596600	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr19:36561600-36572000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr19:36561800-36572000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr19:36561800-36572200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr19:36561800-36574200	Weak transcription	NH-A	brain
40	chr19:36562000-36572400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr19:36562000-36588600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr19:36562200-36571800	Weak transcription	HUVEC	blood vessel
43	chr19:36562200-36585000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr19:36563000-36572600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr19:36563000-36594200	Weak transcription	HSMM	muscle
46	chr19:36563600-36572000	Weak transcription	Osteobl	bone
47	chr19:36564400-36574200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr19:36564800-36572000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr19:36564800-36572200	Weak transcription	NHEK	skin
50	chr19:36564800-36572200	Weak transcription	NHLF	lung

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