Variant report

Variant	rs181736
Chromosome Location	chr5:58677233-58677234
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs165940	0.83[CHB][hapmap];0.82[CHD][hapmap]
rs171801	0.83[CHB][hapmap]
rs193447	0.95[CHB][hapmap];0.85[ASN][1000 genomes]
rs244590	0.83[CHB][hapmap];0.84[ASN][1000 genomes]
rs244591	0.83[CHB][hapmap];0.84[ASN][1000 genomes]
rs244592	0.83[CHB][hapmap]
rs244595	0.83[CHB][hapmap]
rs244596	0.81[CHB][hapmap]
rs258105	0.82[CHB][hapmap]
rs258106	0.83[CHB][hapmap]
rs258108	0.83[CHB][hapmap]
rs258109	0.83[CHB][hapmap]
rs258110	0.83[CHB][hapmap]
rs258127	0.87[CHB][hapmap]
rs258128	0.91[CHB][hapmap]
rs258129	0.83[CHB][hapmap]
rs2591750	0.81[ASN][1000 genomes]
rs365223	0.84[ASN][1000 genomes]
rs368538	0.84[ASN][1000 genomes]
rs370891	0.84[ASN][1000 genomes]
rs378858	0.83[CHB][hapmap];0.84[ASN][1000 genomes]
rs378869	0.83[CHB][hapmap]
rs380993	0.82[CHB][hapmap];0.84[ASN][1000 genomes]
rs383046	0.84[ASN][1000 genomes]
rs383444	0.82[CHB][hapmap]
rs387647	0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs392901	0.86[CHB][hapmap]
rs403672	0.82[CHB][hapmap];0.83[ASN][1000 genomes]
rs403695	0.87[CHB][hapmap];0.81[CHD][hapmap];0.83[ASN][1000 genomes]
rs424839	0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs428059	0.81[CHB][hapmap]
rs431645	0.84[ASN][1000 genomes]
rs433161	0.83[CHB][hapmap];0.82[CHD][hapmap]
rs434274	0.84[ASN][1000 genomes]
rs444552	0.83[CHB][hapmap];0.82[CHD][hapmap]
rs454702	0.82[ASN][1000 genomes]
rs530656	0.84[ASN][1000 genomes]
rs531511	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023628	chr5:58557950-58757438	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv917274	chr5:58565291-58814374	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1030716	chr5:58636116-58718362	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1032732	chr5:58637179-58689010	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1022160	chr5:58645805-58689010	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv881705	chr5:58668669-58745872	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1028022	chr5:58673780-58786468	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1034656	chr5:58674724-58755580	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv598253	chr5:58675538-58754510	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs181736	RAB3C	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58666000-58681400	Weak transcription	Psoas Muscle	Psoas
2	chr5:58672200-58689200	Weak transcription	Fetal Brain Female	brain
3	chr5:58672800-58681600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:58673800-58677400	Weak transcription	Fetal Intestine Large	intestine
5	chr5:58675000-58677400	Weak transcription	Fetal Brain Male	brain
6	chr5:58675400-58681400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:58676200-58678000	Enhancers	Fetal Intestine Small	intestine
8	chr5:58676200-58678200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:58676200-58678400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:58676400-58677400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:58676400-58681600	Enhancers	A549	lung
12	chr5:58676400-58686200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr5:58677000-58677800	Weak transcription	Fetal Lung	lung

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