Variant report

Variant	rs13316551
Chromosome Location	chr3:48745167-48745168
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:48727679..48729192-chr3:48743162..48745800,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10865952	0.95[ASN][1000 genomes]
rs11557629	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11706203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11706983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11708786	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11715177	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11715689	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11715713	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11715835	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11719291	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11719457	0.80[AMR][1000 genomes]
rs12493578	0.95[ASN][1000 genomes]
rs12497850	0.95[ASN][1000 genomes]
rs12715429	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13063223	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13070798	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13076269	0.81[AMR][1000 genomes]
rs13086240	0.84[AMR][1000 genomes]
rs13090013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13090839	0.80[AMR][1000 genomes]
rs13096357	0.81[AMR][1000 genomes]
rs13324119	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13324950	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13434258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1352420	0.95[ASN][1000 genomes]
rs17080319	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286651	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2286652	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2302295	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28452701	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28567949	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28657585	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28793701	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34096717	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34153629	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34577723	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs35064573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3733086	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3821875	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4077495	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4858798	0.95[ASN][1000 genomes]
rs4858828	0.95[ASN][1000 genomes]
rs4858831	0.95[ASN][1000 genomes]
rs56735597	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61137521	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6768448	0.82[EUR][1000 genomes]
rs6773261	0.81[AMR][1000 genomes]
rs6788650	0.95[ASN][1000 genomes]
rs68042649	0.82[EUR][1000 genomes]
rs7633840	0.86[ASN][1000 genomes]
rs9809222	0.82[EUR][1000 genomes]
rs9811027	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9811318	0.82[EUR][1000 genomes]
rs9812977	0.80[AMR][1000 genomes]
rs9821797	0.82[EUR][1000 genomes]
rs9834996	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9836462	0.82[EUR][1000 genomes]
rs9841602	0.82[EUR][1000 genomes]
rs9848203	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9854034	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9873726	0.82[EUR][1000 genomes]
rs9877542	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9877685	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9882549	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv834685	chr3:48565009-48745774	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv590247	chr3:48661985-48801929	Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs13316551	WDR6	cis	lung	GTEx
rs13316551	WDR6	cis	Esophagus Mucosa	GTEx
rs13316551	WDR6	cis	Skin Sun Exposed Lower leg	GTEx
rs13316551	WDR6	cis	Whole Blood	GTEx
rs13316551	WDR6	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48724600-48746600	Strong transcription	Fetal Thymus	thymus
2	chr3:48724600-48749000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:48725200-48746200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:48732800-48745400	Weak transcription	Psoas Muscle	Psoas
5	chr3:48733000-48745400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr3:48733000-48753400	Weak transcription	Aorta	Aorta
7	chr3:48733200-48746000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr3:48733200-48746000	Strong transcription	Fetal Intestine Small	intestine
9	chr3:48733200-48746200	Weak transcription	Right Ventricle	heart
10	chr3:48734000-48746400	Weak transcription	Fetal Brain Male	brain
11	chr3:48734200-48745400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:48734400-48745600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr3:48734400-48746000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:48734400-48746000	Weak transcription	Brain Substantia Nigra	brain
15	chr3:48734400-48746200	Weak transcription	Gastric	stomach
16	chr3:48734400-48746400	Weak transcription	Stomach Mucosa	stomach
17	chr3:48734400-48748800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr3:48735800-48746000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr3:48737200-48746200	Weak transcription	Pancreas	Pancrea
20	chr3:48737200-48746200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr3:48737200-48746600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:48737400-48746400	Weak transcription	HSMMtube	muscle
23	chr3:48738000-48746000	Weak transcription	K562	blood
24	chr3:48738200-48752400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr3:48738400-48745200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr3:48738400-48746200	Weak transcription	Brain Angular Gyrus	brain
27	chr3:48738800-48746200	Weak transcription	Fetal Brain Female	brain
28	chr3:48739400-48745800	Strong transcription	Osteobl	bone
29	chr3:48739800-48750800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:48740000-48745800	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr3:48740000-48746200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr3:48740000-48753600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr3:48740400-48746600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:48740600-48745200	Weak transcription	NHDF-Ad	bronchial
35	chr3:48740600-48745400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:48740600-48747400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr3:48740800-48746000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr3:48740800-48746000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr3:48740800-48746000	Weak transcription	Fetal Heart	heart
40	chr3:48740800-48746200	Weak transcription	GM12878-XiMat	blood
41	chr3:48741400-48745200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr3:48741400-48750600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr3:48741600-48745400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr3:48741600-48745400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:48741600-48749600	Strong transcription	Primary B cells from cord blood	blood
46	chr3:48741600-48750600	Strong transcription	Fetal Muscle Trunk	muscle
47	chr3:48741600-48752400	Strong transcription	Fetal Intestine Large	intestine
48	chr3:48741800-48745200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr3:48741800-48745200	Weak transcription	Adipose Nuclei	Adipose
50	chr3:48741800-48745800	Strong transcription	HUES6 Cell Line	embryonic stem cell

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