Variant report

Variant	rs9349073
Chromosome Location	chr6:38332368-38332369
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:38331466..38333849-chr6:38336683..38339653,2	K562	blood:
2	chr6:38331466..38333553-chr6:38337264..38339653,2	K562	blood:
3	chr6:38249444..38252247-chr6:38332089..38334511,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1033480	0.81[MEX][hapmap]
rs12191714	1.00[JPT][hapmap]
rs12201631	0.81[ASN][1000 genomes]
rs12202804	0.81[ASN][1000 genomes]
rs12206324	1.00[JPT][hapmap]
rs12206905	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs12212983	1.00[JPT][hapmap]
rs12214470	0.92[ASN][1000 genomes]
rs12215850	1.00[JPT][hapmap]
rs1883610	0.86[JPT][hapmap]
rs1931758	0.81[ASN][1000 genomes]
rs1983605	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs228179	0.81[MEX][hapmap]
rs228186	0.81[MEX][hapmap]
rs228188	0.81[MEX][hapmap]
rs28445226	1.00[JPT][hapmap]
rs4236058	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs4711539	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4711542	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap];0.88[YRI][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4711546	1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4714147	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4714148	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4714152	1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4714157	1.00[JPT][hapmap]
rs4714165	0.88[JPT][hapmap]
rs6458051	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6899746	1.00[JPT][hapmap]
rs6901086	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6904723	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6923701	0.84[ASN][1000 genomes]
rs6933268	1.00[JPT][hapmap]
rs6933758	1.00[JPT][hapmap]
rs6940319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs742515	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7748599	1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7749685	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7755429	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7759629	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7766214	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7766509	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7770868	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs871183	1.00[JPT][hapmap]
rs9349072	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9349078	0.81[ASN][1000 genomes]
rs9349079	0.84[ASN][1000 genomes]
rs9357272	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9380743	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9394492	0.88[CHD][hapmap]
rs9394495	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9470875	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9470885	1.00[JPT][hapmap]
rs9470888	1.00[JPT][hapmap]
rs9470891	0.88[CHD][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv885818	chr6:38147745-38436317	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv885820	chr6:38166511-38468887	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv602957	chr6:38305770-38395874	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1032358	chr6:38323745-38415855	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1022724	chr6:38332368-38454527	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9349073	GLO1	cis	parietal	SCAN
rs9349073	GLO1	cis	cerebellum	SCAN
rs9349073	KIF6	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38315800-38339000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:38319200-38334200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:38326200-38338600	Weak transcription	Ovary	ovary
4	chr6:38326400-38337200	Weak transcription	Psoas Muscle	Psoas
5	chr6:38326600-38332400	Weak transcription	HSMMtube	muscle
6	chr6:38327400-38338600	Weak transcription	Left Ventricle	heart
7	chr6:38330000-38338000	Weak transcription	Fetal Kidney	kidney
8	chr6:38331200-38333200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:38331200-38333200	Enhancers	NHDF-Ad	bronchial
10	chr6:38331200-38339000	Weak transcription	Right Atrium	heart
11	chr6:38331400-38332800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:38331400-38332800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:38331600-38332600	Enhancers	Osteobl	bone
14	chr6:38331800-38332800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:38332000-38332600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr6:38332000-38332600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:38332200-38332400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr6:38332200-38337800	Weak transcription	Adipose Nuclei	Adipose

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