Variant report

Variant	rs6918148
Chromosome Location	chr6:110532805-110532806
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:110522853..110524985-chr6:110532193..110534015,2	K562	blood:
2	chr16:73103273..73105609-chr6:110532483..110534690,2	MCF-7	breast:
3	chr6:110532696..110534924-chr6:110589578..110591934,2	K562	blood:
4	chr6:110528573..110531022-chr6:110531930..110534034,2	K562	blood:
5	chr6:110530388..110533347-chr6:110533679..110536950,3	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11153226	0.85[CHB][hapmap];0.96[CHD][hapmap];0.85[GIH][hapmap];0.92[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11751590	0.94[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.91[LWK][hapmap];0.93[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11753534	0.92[JPT][hapmap]
rs11757055	0.94[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.95[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12110744	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12660119	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12660791	0.94[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];0.96[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12662013	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12665849	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12665858	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1462492	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1462493	0.85[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17071278	0.92[JPT][hapmap]
rs17071283	0.92[JPT][hapmap]
rs2002630	0.88[ASN][1000 genomes]
rs2334322	0.92[JPT][hapmap]
rs4257894	0.93[CHD][hapmap];0.85[GIH][hapmap];0.92[JPT][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4299857	1.00[CEU][hapmap];0.92[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4339500	0.94[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.98[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4509164	0.85[CHB][hapmap];0.96[CHD][hapmap];0.85[GIH][hapmap];0.92[JPT][hapmap];0.93[MEX][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4945850	0.84[CHD][hapmap];0.85[GIH][hapmap];0.92[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4945851	0.92[CHB][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4945852	0.92[JPT][hapmap]
rs4947048	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4947049	0.92[JPT][hapmap]
rs4947051	0.94[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.95[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4947058	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]
rs4947059	0.92[JPT][hapmap]
rs56122480	0.93[ASN][1000 genomes]
rs56135788	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56287427	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57983455	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60495849	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61020234	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6568633	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6568634	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap]
rs6913554	0.93[CHD][hapmap];0.97[GIH][hapmap];0.93[MEX][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6915379	0.91[ASN][1000 genomes]
rs6925392	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6926540	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6927667	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6927697	0.85[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.92[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6927722	0.94[ASW][hapmap];0.92[CEU][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];0.95[LWK][hapmap];0.81[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6928684	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6933258	0.92[JPT][hapmap]
rs6938106	0.85[CHB][hapmap];0.92[JPT][hapmap];0.98[ASN][1000 genomes]
rs6938139	0.83[ASW][hapmap];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];0.93[YRI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6938653	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs719849	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73535810	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73535817	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73535821	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73535837	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73535838	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73537927	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73537938	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs73537949	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7744828	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7766653	0.92[JPT][hapmap]
rs7766850	0.90[ASN][1000 genomes]
rs9384735	0.82[ASN][1000 genomes]
rs9481045	0.85[ASN][1000 genomes]
rs9481047	0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs9481048	0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs9487317	0.90[ASN][1000 genomes]
rs9487318	0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs9487319	0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs9487321	0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs9487325	0.92[JPT][hapmap]
rs9487327	0.92[JPT][hapmap]

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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6918148	WASF1	cis	Muscle Skeletal	GTEx
rs6918148	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	chr6:110502600-110533200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:110502600-110536600	Weak transcription	Esophagus	oesophagus
3	chr6:110502800-110533400	Weak transcription	HSMMtube	muscle
4	chr6:110503200-110533400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:110503400-110536600	Weak transcription	Gastric	stomach
6	chr6:110503800-110533400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:110504400-110536600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:110504600-110536600	Weak transcription	Fetal Stomach	stomach
9	chr6:110504800-110533400	Weak transcription	Fetal Muscle Leg	muscle
10	chr6:110504800-110533400	Weak transcription	NHEK	skin
11	chr6:110504800-110536600	Weak transcription	Pancreas	Pancrea
12	chr6:110504800-110536600	Weak transcription	Spleen	Spleen
13	chr6:110507400-110536600	Weak transcription	Thymus	Thymus
14	chr6:110507600-110533400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr6:110512200-110536600	Weak transcription	Lung	lung
16	chr6:110512200-110538200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:110512200-110551000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:110512200-110552200	Weak transcription	Right Ventricle	heart
19	chr6:110512600-110533400	Weak transcription	Ovary	ovary
20	chr6:110512800-110533400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr6:110513000-110533400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr6:110513000-110533400	Weak transcription	Left Ventricle	heart
23	chr6:110513000-110533400	Weak transcription	Psoas Muscle	Psoas
24	chr6:110513400-110533200	Weak transcription	Brain Anterior Caudate	brain
25	chr6:110513400-110538600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr6:110515200-110533000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:110515800-110533000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:110515800-110533000	Weak transcription	Fetal Brain Female	brain
29	chr6:110515800-110533200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr6:110515800-110533400	Weak transcription	A549	lung
31	chr6:110517400-110533200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr6:110519800-110543200	Weak transcription	Fetal Intestine Small	intestine
33	chr6:110521200-110533400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr6:110522200-110538000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr6:110522400-110553200	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr6:110523000-110536600	Weak transcription	Fetal Heart	heart
37	chr6:110524600-110533000	Weak transcription	Colonic Mucosa	Colon
38	chr6:110527000-110533000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr6:110527600-110551400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr6:110527800-110533000	Weak transcription	Brain Germinal Matrix	brain
41	chr6:110528000-110552800	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr6:110528200-110557400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr6:110528600-110541200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:110528600-110541800	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr6:110528600-110542600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:110528600-110544200	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr6:110528600-110544400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:110528600-110551400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr6:110528800-110534400	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr6:110528800-110534400	Strong transcription	NHDF-Ad	bronchial

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