Variant report

Variant	rs73535817
Chromosome Location	chr6:110450800-110450801
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11153226	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11751590	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11757055	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12110744	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12660119	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12660791	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12662013	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12665849	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12665858	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1462490	0.86[ASN][1000 genomes]
rs1462492	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1462493	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2002630	0.95[ASN][1000 genomes]
rs4257894	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4299857	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4339500	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4509164	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4945850	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4945851	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4947048	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4947051	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4947058	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56122480	1.00[ASN][1000 genomes]
rs56135788	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56287427	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57983455	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60495849	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61020234	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6568633	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6913554	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6915379	0.98[ASN][1000 genomes]
rs6918148	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6925392	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6926540	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6927667	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6927697	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6927722	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6928684	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6938106	0.91[ASN][1000 genomes]
rs6938139	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6938653	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs719849	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73533834	0.86[ASN][1000 genomes]
rs73535810	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73535821	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73535837	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73535838	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73537927	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73537938	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73537949	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7744828	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7747842	0.83[ASN][1000 genomes]
rs7766850	0.84[ASN][1000 genomes]
rs9372247	0.82[ASN][1000 genomes]
rs9372248	0.84[ASN][1000 genomes]
rs9374156	0.86[ASN][1000 genomes]
rs9400359	0.86[ASN][1000 genomes]
rs9400360	0.86[ASN][1000 genomes]
rs9481047	0.84[ASN][1000 genomes]
rs9481048	0.81[ASN][1000 genomes]
rs9487317	0.84[ASN][1000 genomes]
rs9487318	0.84[ASN][1000 genomes]
rs9487319	0.82[ASN][1000 genomes]
rs9487321	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
6	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
7	esv3445149	chr6:110449308-110474569	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs73535817	WASF1	cis	Artery Tibial	GTEx
rs73535817	WASF1	cis	Muscle Skeletal	GTEx

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:110419000-110461800	Weak transcription	HSMMtube	muscle
2	chr6:110423400-110459000	Weak transcription	Fetal Stomach	stomach
3	chr6:110423400-110459200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:110423400-110459200	Weak transcription	Aorta	Aorta
5	chr6:110425000-110456400	Weak transcription	HUVEC	blood vessel
6	chr6:110427600-110459600	Weak transcription	NHEK	skin
7	chr6:110429800-110453600	Weak transcription	Liver	Liver
8	chr6:110429800-110459200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:110430000-110452200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:110431400-110459200	Weak transcription	HSMM	muscle
11	chr6:110438000-110459200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:110441600-110463400	Weak transcription	A549	lung
13	chr6:110443400-110452200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr6:110443800-110459200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:110444000-110483800	Weak transcription	Fetal Kidney	kidney
16	chr6:110444200-110459200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:110444200-110459200	Weak transcription	Ovary	ovary
18	chr6:110444600-110462000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:110445200-110459000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr6:110445200-110482400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:110445800-110451800	Weak transcription	Brain Germinal Matrix	brain
22	chr6:110446600-110458600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:110447000-110458600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr6:110447200-110459200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:110447200-110461200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:110448200-110459200	Weak transcription	Primary B cells from cord blood	blood
27	chr6:110448600-110452200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:110449000-110458400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:110449000-110458600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:110449000-110459200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:110449200-110498600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:110450000-110453200	Weak transcription	Brain Hippocampus Middle	brain
33	chr6:110450000-110459600	Weak transcription	Brain Angular Gyrus	brain
34	chr6:110450200-110453400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:110450200-110459000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:110450200-110459200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:110450400-110458800	Weak transcription	Brain Anterior Caudate	brain
38	chr6:110450400-110459200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr6:110450400-110459200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:110450600-110450800	Enhancers	HUES64 Cell Line	embryonic stem cell

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