Variant report

Variant	rs9493294
Chromosome Location	chr6:132685977-132685978
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:132684501..132686095-chr6:132688658..132690202,2	K562	blood:
2	chr6:132684114..132687099-chr6:132691049..132693602,3	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10499185	0.92[CEU][hapmap]
rs11966044	0.84[EUR][1000 genomes]
rs11968833	0.82[TSI][hapmap]
rs13190939	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs13196312	0.92[CEU][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs1338387	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs1338388	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs17061202	0.91[CEU][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs17637818	0.82[TSI][hapmap]
rs17792959	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs1981187	0.93[EUR][1000 genomes]
rs28385615	0.88[EUR][1000 genomes]
rs34390977	0.88[EUR][1000 genomes]
rs34608104	0.87[EUR][1000 genomes]
rs34807768	0.87[EUR][1000 genomes]
rs35876357	0.81[EUR][1000 genomes]
rs36085961	0.88[EUR][1000 genomes]
rs4897576	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4897577	0.93[EUR][1000 genomes]
rs6909136	0.94[CHB][hapmap];0.81[CHD][hapmap];0.82[TSI][hapmap]
rs6914923	0.88[EUR][1000 genomes]
rs7740690	0.87[EUR][1000 genomes]
rs7761051	0.92[CEU][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs7763146	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7766544	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9375876	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs9375877	0.92[CEU][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes]
rs9385602	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs9388985	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886674	chr6:132613798-132694751	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv830811	chr6:132623160-132787539	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv886675	chr6:132683762-132730947	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9493294	CTGF	cis	parietal	SCAN
rs9493294	MOXD1	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132676400-132686400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:132677200-132688600	Weak transcription	Osteobl	bone
3	chr6:132677400-132701200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr6:132678600-132690400	Weak transcription	NH-A	brain
5	chr6:132679000-132690000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr6:132682000-132692200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr6:132682200-132686400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:132682200-132705800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:132682400-132686000	Weak transcription	Fetal Stomach	stomach
10	chr6:132682400-132686600	Weak transcription	HSMM	muscle
11	chr6:132683600-132688000	Enhancers	Fetal Lung	lung
12	chr6:132684200-132686400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:132684200-132686400	Weak transcription	NHLF	lung
14	chr6:132684800-132686200	Enhancers	GM12878-XiMat	blood
15	chr6:132685000-132686600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:132685400-132686800	Enhancers	Fetal Heart	heart
17	chr6:132685400-132687200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr6:132685600-132686000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:132685600-132686000	Enhancers	NHDF-Ad	bronchial
20	chr6:132685600-132686600	Enhancers	Stomach Mucosa	stomach
21	chr6:132685600-132687400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:132685600-132687800	Enhancers	Primary B cells from peripheral blood	blood
23	chr6:132685600-132688400	Enhancers	Fetal Kidney	kidney
24	chr6:132685800-132687200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:132685800-132687400	Enhancers	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links