Variant report

Variant	rs7924783
Chromosome Location	chr11:16533793-16533794
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:16527461..16531095-chr11:16531624..16535473,5	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1018143	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs10766321	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs10766323	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs10766329	0.82[ASN][1000 genomes]
rs10832600	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs10832605	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs10832606	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs10832608	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs10832613	0.85[CHD][hapmap]
rs10832614	0.85[CHD][hapmap]
rs10832621	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10832622	0.80[ASN][1000 genomes]
rs10832627	0.82[ASN][1000 genomes]
rs11023944	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs11023945	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs11529132	0.82[ASN][1000 genomes]
rs11529582	0.82[ASN][1000 genomes]
rs11820804	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs12271656	0.82[ASN][1000 genomes]
rs12276256	0.82[ASN][1000 genomes]
rs12277548	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs12293115	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs12418348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503448	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs1503449	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs1875717	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs1910407	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs2089050	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs2134609	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs2174162	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs2174163	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs297324	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs297326	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs297334	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs297339	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs35223308	0.81[ASN][1000 genomes]
rs4492775	0.82[ASN][1000 genomes]
rs4757407	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60439454	0.82[ASN][1000 genomes]
rs626927	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs7117636	0.82[ASN][1000 genomes]
rs7118874	0.85[CHD][hapmap]
rs7121140	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs7126577	0.81[ASN][1000 genomes]
rs7929425	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs7929629	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs7951214	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs9667486	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv553566	chr11:16329009-16799044	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv897016	chr11:16455794-16691743	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1035768	chr11:16530440-16578566	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2761650	chr11:16530452-16541623	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7924783	RTP2	trans	cerebellum	SCAN
rs7924783	PTH	cis	cerebellum	SCAN
rs7924783	C11orf58	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16532200-16534600	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr11:16532400-16534800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr11:16532600-16534600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:16532800-16533800	Enhancers	Osteobl	bone
5	chr11:16532800-16534000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:16532800-16535600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:16533000-16533800	Enhancers	Fetal Heart	heart
8	chr11:16533200-16533800	Enhancers	NH-A	brain
9	chr11:16533200-16534000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr11:16533200-16535000	Enhancers	Fetal Lung	lung
11	chr11:16533400-16534400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr11:16533600-16533800	Enhancers	Psoas Muscle	Psoas
13	chr11:16533600-16534200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:16533600-16534400	Weak transcription	NHLF	lung

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