Variant report

Variant	rs6927722
Chromosome Location	chr6:110430611-110430612
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11153226	0.84[ASW][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.92[ASN][1000 genomes]
rs11751590	1.00[ASW][hapmap];0.92[CEU][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.87[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11757055	1.00[ASW][hapmap];0.92[CEU][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12110744	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12660119	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12660791	1.00[ASW][hapmap];0.92[CEU][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12662013	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12665849	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12665858	0.94[AFR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1462490	0.88[ASN][1000 genomes]
rs1462492	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1462493	0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2002630	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4257894	0.84[ASW][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.86[TSI][hapmap];0.94[ASN][1000 genomes]
rs4299857	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4339500	1.00[ASW][hapmap];0.92[CEU][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4509164	0.84[ASW][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.91[ASN][1000 genomes]
rs4945850	0.84[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.90[TSI][hapmap];0.98[ASN][1000 genomes]
rs4945851	0.86[CHB][hapmap];0.87[CHD][hapmap];0.82[GIH][hapmap];0.92[JPT][hapmap];0.90[TSI][hapmap];0.94[ASN][1000 genomes]
rs4947048	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4947051	1.00[ASW][hapmap];0.92[CEU][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4947058	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]
rs56122480	0.98[ASN][1000 genomes]
rs56135788	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56287427	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57983455	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60495849	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61020234	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6568633	0.92[ASN][1000 genomes]
rs6568634	0.92[CEU][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap]
rs6912291	0.82[ASN][1000 genomes]
rs6913554	0.85[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];0.87[MEX][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6915379	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6918148	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]
rs6925392	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6926540	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6927667	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6927697	0.84[ASW][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.90[TSI][hapmap];0.95[ASN][1000 genomes]
rs6928684	0.99[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6938106	0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6938139	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];0.96[YRI][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6938653	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs719849	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73533834	0.88[ASN][1000 genomes]
rs73535810	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73535817	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73535821	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73535837	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73535838	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73537927	0.92[ASN][1000 genomes]
rs73537938	0.92[ASN][1000 genomes]
rs73537949	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7744828	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7747842	0.85[ASN][1000 genomes]
rs7766850	0.82[ASN][1000 genomes]
rs9372247	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9372248	0.86[ASN][1000 genomes]
rs9374156	0.88[ASN][1000 genomes]
rs9400359	0.88[ASN][1000 genomes]
rs9400360	0.88[ASN][1000 genomes]
rs9481047	0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9481048	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs9487317	0.82[ASN][1000 genomes]
rs9487318	0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9487319	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs9487321	0.85[CHB][hapmap];1.00[JPT][hapmap]

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	esv2757188	chr6:110389926-110504680	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	esv2759462	chr6:110389926-110504680	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	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
5	nsv886536	chr6:110426046-110502831	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6927722	WASF1	cis	Muscle Skeletal	GTEx
rs6927722	AIM1	cis	cerebellum	SCAN
rs6927722	WASF1	cis	Artery Tibial	GTEx

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:110417200-110438600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr6:110418200-110436000	Weak transcription	Fetal Brain Male	brain
3	chr6:110418800-110437200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr6:110419000-110431800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr6:110419000-110449600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr6:110419000-110461800	Weak transcription	HSMMtube	muscle
7	chr6:110419200-110449600	Weak transcription	Brain Hippocampus Middle	brain
8	chr6:110419400-110430800	Weak transcription	Osteobl	bone
9	chr6:110419800-110436400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:110420400-110431200	Weak transcription	Fetal Heart	heart
11	chr6:110420600-110435200	Weak transcription	Brain Anterior Caudate	brain
12	chr6:110421200-110433400	Weak transcription	K562	blood
13	chr6:110423200-110440800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr6:110423200-110448400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr6:110423400-110431400	Weak transcription	Fetal Thymus	thymus
16	chr6:110423400-110434000	Weak transcription	HMEC	breast
17	chr6:110423400-110437600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:110423400-110439000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:110423400-110445000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:110423400-110450000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr6:110423400-110459000	Weak transcription	Fetal Stomach	stomach
22	chr6:110423400-110459200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:110423400-110459200	Weak transcription	Aorta	Aorta
24	chr6:110424600-110435200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr6:110424600-110437800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:110424800-110443200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:110424800-110443200	Weak transcription	Ovary	ovary
28	chr6:110425000-110456400	Weak transcription	HUVEC	blood vessel
29	chr6:110425400-110435600	Weak transcription	Brain Angular Gyrus	brain
30	chr6:110425400-110440600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr6:110426000-110437200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:110426800-110448000	Weak transcription	Pancreas	Pancrea
33	chr6:110427600-110438400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:110427600-110459600	Weak transcription	NHEK	skin
35	chr6:110428000-110435600	Weak transcription	Brain Germinal Matrix	brain
36	chr6:110428200-110435400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr6:110428200-110437200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:110428200-110437400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr6:110428200-110437600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr6:110428200-110443200	Weak transcription	Fetal Brain Female	brain
41	chr6:110428200-110450000	Weak transcription	HepG2	liver
42	chr6:110428400-110437400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr6:110428600-110437600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:110428800-110436400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:110428800-110443000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr6:110428800-110446000	Weak transcription	Primary B cells from cord blood	blood
47	chr6:110429000-110434200	Weak transcription	Fetal Kidney	kidney
48	chr6:110429000-110445200	Weak transcription	Hela-S3	cervix
49	chr6:110429800-110431400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:110429800-110432800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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