Variant report

Variant	rs9380740
Chromosome Location	chr6:38333474-38333475
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: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs12208912	0.92[JPT][hapmap]
rs12215330	0.92[JPT][hapmap]
rs1983605	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs2294739	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4140443	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4711538	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4711540	0.93[EUR][1000 genomes]
rs4711541	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4711543	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4711544	1.00[CEU][hapmap];0.87[CHB][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4711546	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs4714149	0.92[CHB][hapmap];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4714151	0.95[EUR][1000 genomes]
rs4714152	1.00[CEU][hapmap];0.81[YRI][hapmap];0.86[EUR][1000 genomes]
rs4714153	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4714155	1.00[CEU][hapmap];0.85[CHB][hapmap];0.84[YRI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4714156	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4714157	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs4714158	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs58424668	0.94[EUR][1000 genomes]
rs58807047	0.94[EUR][1000 genomes]
rs6903060	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs6903611	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6903767	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6923701	0.84[EUR][1000 genomes]
rs742515	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs7743023	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7748599	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7749685	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs7756267	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7759078	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7759629	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7764502	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs7766214	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs9296248	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs9296249	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs9349076	0.85[EUR][1000 genomes]
rs9349077	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs9349078	0.84[EUR][1000 genomes]
rs9349079	0.84[EUR][1000 genomes]
rs9357269	0.88[EUR][1000 genomes]
rs9357270	0.88[EUR][1000 genomes]
rs9357271	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs9357272	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs9366957	0.94[EUR][1000 genomes]
rs9366959	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9366960	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9369055	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9369057	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs9380741	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9380742	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs9380743	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs9380745	0.94[CEU][hapmap]
rs9380747	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs9394493	1.00[CEU][hapmap];0.80[YRI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9394494	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9470865	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9470867	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs9470868	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs9470874	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9380740	C6orf129	cis	brain	BrainEAC

Chromatin state (count:16 , 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	chr6:38327400-38338600	Weak transcription	Left Ventricle	heart
6	chr6:38330000-38338000	Weak transcription	Fetal Kidney	kidney
7	chr6:38331200-38339000	Weak transcription	Right Atrium	heart
8	chr6:38332200-38337800	Weak transcription	Adipose Nuclei	Adipose
9	chr6:38332800-38334200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:38332800-38334800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:38332800-38334800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:38332800-38338800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:38333200-38334600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:38333200-38334600	Weak transcription	HSMMtube	muscle
15	chr6:38333200-38338800	Weak transcription	NHDF-Ad	bronchial
16	chr6:38333400-38337800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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