Variant report

Variant	rs4947058
Chromosome Location	chr6:110537685-110537686
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	chr6:110511080..110513805-chr6:110536717..110538803,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11153226	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.97[ASN][1000 genomes]
rs11751590	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11757055	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12110744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12660119	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12660791	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12662013	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12665849	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12665858	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1462492	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1462493	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2002630	0.86[ASN][1000 genomes]
rs4257894	0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.95[ASN][1000 genomes]
rs4299857	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4339500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4509164	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.90[TSI][hapmap];0.96[ASN][1000 genomes]
rs4945850	0.93[CHB][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.91[ASN][1000 genomes]
rs4945851	0.92[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap];0.90[TSI][hapmap];0.95[ASN][1000 genomes]
rs4947048	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4947051	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56122480	0.91[ASN][1000 genomes]
rs56135788	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56287427	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57983455	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60495849	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61020234	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6568633	0.93[ASN][1000 genomes]
rs6568634	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap]
rs6913554	0.82[ASW][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.93[MEX][hapmap];0.88[YRI][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6915379	0.89[ASN][1000 genomes]
rs6918148	1.00[CEU][hapmap];0.85[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6925392	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6926540	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6927667	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6927697	1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.92[ASN][1000 genomes]
rs6927722	0.92[CEU][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6928684	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6938106	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6938139	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6938653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs719849	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73535810	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73535817	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73535821	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73535837	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73535838	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73537927	0.95[ASN][1000 genomes]
rs73537938	0.97[ASN][1000 genomes]
rs73537949	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7744828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7766850	0.92[ASN][1000 genomes]
rs9384735	0.84[ASN][1000 genomes]
rs9481045	0.87[ASN][1000 genomes]
rs9481047	0.93[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9481048	0.93[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9487317	0.92[ASN][1000 genomes]
rs9487318	0.86[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9487319	0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9487321	0.93[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][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	nsv886535	chr6:110377006-110551463	Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	esv1792799	chr6:110411065-110566597	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv948824	chr6:110443685-110889332	Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	esv1801843	chr6:110506109-110566328	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv949643	chr6:110537685-110889332	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4947058	WASF1	cis	Artery Tibial	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:110512200-110538200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:110512200-110551000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:110512200-110552200	Weak transcription	Right Ventricle	heart
4	chr6:110513400-110538600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:110519800-110543200	Weak transcription	Fetal Intestine Small	intestine
6	chr6:110522200-110538000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:110522400-110553200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr6:110527600-110551400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr6:110528000-110552800	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr6:110528200-110557400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr6:110528600-110541200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:110528600-110541800	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr6:110528600-110542600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:110528600-110544200	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr6:110528600-110544400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:110528600-110551400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:110528800-110538200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:110528800-110544800	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr6:110528800-110551400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:110528800-110551400	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr6:110528800-110551400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:110528800-110551600	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr6:110528800-110551600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:110528800-110552200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr6:110529000-110541800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:110529000-110542400	Strong transcription	Fetal Lung	lung
27	chr6:110529000-110544200	Strong transcription	Dnd41	blood
28	chr6:110529000-110544400	Strong transcription	Liver	Liver
29	chr6:110529000-110551400	Strong transcription	Primary B cells from cord blood	blood
30	chr6:110529400-110551400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:110530000-110556400	Weak transcription	Small Intestine	intestine
32	chr6:110530600-110551600	Strong transcription	Fetal Thymus	thymus
33	chr6:110530800-110558400	Weak transcription	Stomach Mucosa	stomach
34	chr6:110531000-110544600	Strong transcription	Adipose Nuclei	Adipose
35	chr6:110531200-110538200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:110531200-110542800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr6:110531200-110542800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr6:110531400-110539200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr6:110531400-110544800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr6:110531400-110544800	Strong transcription	Fetal Intestine Large	intestine
41	chr6:110531400-110549400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr6:110531400-110552400	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr6:110531600-110538600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:110531800-110542200	Strong transcription	Placenta	Placenta
45	chr6:110531800-110544400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr6:110531800-110550800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr6:110532000-110538200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:110532000-110542800	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr6:110532000-110551400	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr6:110532200-110544600	Strong transcription	Duodenum Mucosa	Duodenum

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