Variant report

Variant	rs4762758
Chromosome Location	chr12:20614659-20614660
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10047559	0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs10770662	0.81[CHB][hapmap];0.87[CHD][hapmap];0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs10770663	0.88[CHB][hapmap];0.94[JPT][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10770664	0.81[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs10841527	0.81[CHB][hapmap];0.82[CHD][hapmap];0.83[JPT][hapmap]
rs10841535	0.90[CHD][hapmap];0.80[JPT][hapmap]
rs10841537	1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs10841538	0.95[ASN][1000 genomes]
rs10841539	0.88[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs10841540	0.91[ASN][1000 genomes]
rs10841541	0.88[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs10841542	0.88[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs10841544	0.88[CHB][hapmap];0.88[CHD][hapmap];0.83[JPT][hapmap]
rs10841546	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs10841547	0.92[CHB][hapmap];0.86[JPT][hapmap]
rs10841549	0.88[CHB][hapmap];0.88[CHD][hapmap];0.89[JPT][hapmap]
rs10841553	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs11045249	0.81[CHB][hapmap];0.82[CHD][hapmap];0.83[JPT][hapmap]
rs11045250	0.87[CHB][hapmap];0.85[CHD][hapmap];0.83[JPT][hapmap]
rs11045251	0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs11045252	0.82[JPT][hapmap]
rs11045255	0.91[ASN][1000 genomes]
rs11045262	0.87[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs11045263	0.87[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs11045265	0.88[LWK][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes]
rs11045266	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs11045272	0.88[CHB][hapmap];0.90[CHD][hapmap];0.89[JPT][hapmap]
rs11045274	0.88[CHB][hapmap];0.85[CHD][hapmap];0.89[JPT][hapmap]
rs11045283	0.84[JPT][hapmap]
rs12298038	0.89[ASN][1000 genomes]
rs12311557	0.87[CHB][hapmap];0.88[CHD][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs12317326	0.86[ASN][1000 genomes]
rs12423286	0.87[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12427036	0.81[ASN][1000 genomes]
rs3925062	0.94[JPT][hapmap]
rs4762755	0.84[CEU][hapmap]
rs4762964	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs4762965	0.88[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap]
rs56040734	0.84[ASN][1000 genomes]
rs56050603	0.86[ASN][1000 genomes]
rs56150763	0.91[ASN][1000 genomes]
rs56392934	0.89[ASN][1000 genomes]
rs61584046	0.84[ASN][1000 genomes]
rs7304019	0.87[CHB][hapmap];0.90[CHD][hapmap];0.89[JPT][hapmap]
rs73069202	0.88[ASN][1000 genomes]
rs7308231	0.88[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs7484301	0.87[CHB][hapmap];0.88[JPT][hapmap]
rs7487173	0.88[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs7487340	0.91[CHB][hapmap]
rs7952834	0.89[ASN][1000 genomes]
rs7962446	0.87[CHB][hapmap];0.85[CHD][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs7962871	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1046870	chr12:20509914-20711535	Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv541409	chr12:20509914-20711535	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	nsv1042315	chr12:20531641-20629866	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv557701	chr12:20614024-20643574	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4762758	DDX43	trans	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20588200-20618400	Weak transcription	Ovary	ovary
2	chr12:20604400-20621600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:20606000-20616600	Weak transcription	A549	lung
4	chr12:20607800-20645000	Weak transcription	Right Ventricle	heart
5	chr12:20609000-20618800	Weak transcription	Osteobl	bone
6	chr12:20609000-20619000	Weak transcription	NHDF-Ad	bronchial
7	chr12:20611400-20615000	Enhancers	Fetal Intestine Small	intestine
8	chr12:20611800-20621200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr12:20612000-20617600	Weak transcription	Hela-S3	cervix
10	chr12:20612600-20614800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:20613800-20615200	Weak transcription	Aorta	Aorta
12	chr12:20613800-20615200	Weak transcription	Left Ventricle	heart
13	chr12:20614000-20617600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:20614200-20618800	Weak transcription	Fetal Intestine Large	intestine
15	chr12:20614200-20621800	Weak transcription	Small Intestine	intestine

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