Variant report

Variant	rs6795133
Chromosome Location	chr3:81756267-81756268
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	chr3:81751412..81753231-chr3:81755307..81758066,3	K562	blood:
2	chr3:81754177..81756278-chr3:81762683..81765640,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11127740	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11707026	0.93[ASW][hapmap];0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.89[JPT][hapmap];0.89[MEX][hapmap];0.87[TSI][hapmap];0.95[YRI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11710970	0.83[EUR][1000 genomes]
rs11711331	0.83[CEU][hapmap];0.81[CHB][hapmap];0.85[CHD][hapmap];0.86[GIH][hapmap];0.97[TSI][hapmap]
rs12637814	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13062741	0.95[CEU][hapmap]
rs13065281	0.95[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13072957	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13073613	0.91[CEU][hapmap];1.00[GIH][hapmap];0.81[MKK][hapmap];0.84[TSI][hapmap]
rs13079104	0.95[CEU][hapmap];1.00[GIH][hapmap];0.82[MKK][hapmap];0.84[TSI][hapmap]
rs13080520	0.91[CEU][hapmap];0.95[GIH][hapmap]
rs13086292	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13088603	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs13099615	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1464790	1.00[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.89[MEX][hapmap];0.94[MKK][hapmap];0.94[TSI][hapmap];0.95[YRI][hapmap]
rs2053805	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.86[LWK][hapmap];0.94[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2229519	0.93[ASW][hapmap];0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.89[JPT][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.91[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28435942	0.83[EUR][1000 genomes]
rs3755713	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];0.95[YRI][hapmap]
rs3772882	0.82[GIH][hapmap];0.81[TSI][hapmap]
rs3772883	0.82[GIH][hapmap];0.81[TSI][hapmap]
rs3772884	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap]
rs3772891	0.81[CHB][hapmap];0.84[JPT][hapmap];0.89[MEX][hapmap];0.91[TSI][hapmap]
rs3772896	0.87[CEU][hapmap];0.82[CHB][hapmap];0.91[EUR][1000 genomes]
rs3772909	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3821548	0.87[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];0.86[GIH][hapmap];0.97[TSI][hapmap];0.91[EUR][1000 genomes]
rs3821551	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3821552	0.95[CEU][hapmap];0.85[YRI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3849570	0.83[CEU][hapmap];0.85[CHD][hapmap];0.86[GIH][hapmap];0.97[TSI][hapmap]
rs3849571	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs3943556	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4411908	0.82[GIH][hapmap];0.81[TSI][hapmap]
rs56106807	0.81[EUR][1000 genomes]
rs6767749	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7620240	0.87[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];0.84[GIH][hapmap];0.97[TSI][hapmap];0.91[EUR][1000 genomes]
rs7634258	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7642112	0.95[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9826069	0.91[EUR][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	nsv1012133	chr3:81499082-81817471	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv949545	chr3:81523898-81893929	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1009607	chr3:81651419-81825151	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv536604	chr3:81651419-81825151	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv834749	chr3:81655377-81818880	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv999992	chr3:81693662-82015969	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv536605	chr3:81693662-82015969	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6795133	GBE1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81699400-81766000	Weak transcription	NHLF	lung
2	chr3:81714400-81763600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr3:81718600-81757600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr3:81726400-81762600	Weak transcription	HMEC	breast
5	chr3:81726800-81766200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:81727200-81792200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr3:81732000-81766400	Weak transcription	HSMMtube	muscle
8	chr3:81734600-81765800	Weak transcription	HepG2	liver
9	chr3:81735600-81764200	Weak transcription	A549	lung
10	chr3:81737400-81762200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr3:81743600-81762000	Weak transcription	Osteobl	bone
12	chr3:81744200-81772800	Weak transcription	Right Ventricle	heart
13	chr3:81747000-81764000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:81748600-81762200	Weak transcription	Aorta	Aorta
15	chr3:81749000-81764000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:81749200-81772800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:81749400-81766000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr3:81749400-81766000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr3:81749400-81766000	Weak transcription	Adipose Nuclei	Adipose
20	chr3:81750200-81772600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:81753200-81763800	Weak transcription	Liver	Liver
22	chr3:81754200-81762000	Weak transcription	HSMM	muscle
23	chr3:81754200-81762200	Weak transcription	HUVEC	blood vessel
24	chr3:81754400-81762000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:81754400-81766000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:81754800-81757000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:81754800-81766000	Weak transcription	NHDF-Ad	bronchial
28	chr3:81755000-81759000	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr3:81755200-81759200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:81755400-81762200	Weak transcription	Fetal Lung	lung
31	chr3:81755600-81757800	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr3:81755600-81760000	Weak transcription	Psoas Muscle	Psoas
33	chr3:81755600-81763800	Weak transcription	Left Ventricle	heart
34	chr3:81755600-81764000	Weak transcription	Pancreas	Pancrea
35	chr3:81755600-81766000	Weak transcription	Gastric	stomach
36	chr3:81755800-81758000	Weak transcription	Fetal Heart	heart
37	chr3:81755800-81758000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr3:81755800-81762200	Weak transcription	Dnd41	blood
39	chr3:81755800-81766000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr3:81755800-81772800	Weak transcription	Right Atrium	heart
41	chr3:81755800-81781000	Weak transcription	Primary B cells from cord blood	blood

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