Variant report

Variant	rs6926993
Chromosome Location	chr6:110443385-110443386
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs12660108	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12662027	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12662099	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12662559	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12664024	0.94[EUR][1000 genomes]
rs12664697	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12665152	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12665178	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12665650	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1350943	0.94[EUR][1000 genomes]
rs1350944	0.94[EUR][1000 genomes]
rs1381688	0.94[EUR][1000 genomes]
rs2002631	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2361500	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2885293	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3806158	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3828928	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41288574	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41288576	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56662730	0.82[EUR][1000 genomes]
rs57771959	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58100980	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58965432	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs59181827	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60105161	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61494781	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6904509	0.94[ASN][1000 genomes]
rs6918158	0.92[ASN][1000 genomes]
rs6922245	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6922536	0.94[EUR][1000 genomes]
rs6927464	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6935544	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6937364	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6940347	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6941101	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73765657	0.94[EUR][1000 genomes]
rs73765660	0.94[EUR][1000 genomes]
rs73765665	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7752069	0.94[EUR][1000 genomes]
rs7770634	0.94[EUR][1000 genomes]
rs7771649	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7771909	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9374151	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9374153	0.94[EUR][1000 genomes]
rs9374154	0.94[EUR][1000 genomes]
rs9374155	0.94[EUR][1000 genomes]
rs9374157	0.94[EUR][1000 genomes]
rs9386877	0.94[EUR][1000 genomes]
rs9386879	0.94[EUR][1000 genomes]
rs9400361	0.94[EUR][1000 genomes]
rs9400362	0.81[EUR][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	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6926993	WASF1	cis	Artery Tibial	GTEx

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:110419000-110449600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr6:110419000-110461800	Weak transcription	HSMMtube	muscle
3	chr6:110419200-110449600	Weak transcription	Brain Hippocampus Middle	brain
4	chr6:110423200-110448400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr6:110423400-110445000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:110423400-110450000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:110423400-110459000	Weak transcription	Fetal Stomach	stomach
8	chr6:110423400-110459200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:110423400-110459200	Weak transcription	Aorta	Aorta
10	chr6:110425000-110456400	Weak transcription	HUVEC	blood vessel
11	chr6:110426800-110448000	Weak transcription	Pancreas	Pancrea
12	chr6:110427600-110459600	Weak transcription	NHEK	skin
13	chr6:110428200-110450000	Weak transcription	HepG2	liver
14	chr6:110428800-110446000	Weak transcription	Primary B cells from cord blood	blood
15	chr6:110429000-110445200	Weak transcription	Hela-S3	cervix
16	chr6:110429800-110453600	Weak transcription	Liver	Liver
17	chr6:110429800-110459200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr6:110430000-110443600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr6:110430000-110446400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:110430000-110449800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr6:110430000-110452200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr6:110430200-110446000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr6:110430400-110450200	Weak transcription	NHDF-Ad	bronchial
24	chr6:110431400-110459200	Weak transcription	HSMM	muscle
25	chr6:110435600-110443600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:110436600-110449600	Weak transcription	Brain Anterior Caudate	brain
27	chr6:110436800-110449600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr6:110438000-110449800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr6:110438000-110449800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:110438000-110459200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:110441600-110463400	Weak transcription	A549	lung
32	chr6:110442400-110445200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:110442800-110444200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:110443000-110443400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:110443000-110443400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
36	chr6:110443000-110443400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
37	chr6:110443000-110443600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:110443000-110443800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
39	chr6:110443000-110443800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:110443000-110444200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
41	chr6:110443000-110444200	ZNF genes & repeats	Brain Germinal Matrix	brain
42	chr6:110443000-110445200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:110443000-110445200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:110443000-110447000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:110443200-110443400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr6:110443200-110443800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:110443200-110443800	ZNF genes & repeats	Fetal Brain Female	brain
48	chr6:110443200-110444000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:110443200-110444200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:110443200-110444200	Strong transcription	Ovary	ovary

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