Variant report

Variant	rs7986288
Chromosome Location	chr13:76455056-76455057
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:43)

rs_ID	r²[population]
rs1015694	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs1323562	0.80[EUR][1000 genomes]
rs1323565	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs1323566	0.85[EUR][1000 genomes]
rs1323567	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs1359113	0.91[CEU][hapmap]
rs1397	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs1399	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs4329801	0.85[EUR][1000 genomes]
rs4418941	0.86[EUR][1000 genomes]
rs4508318	0.86[EUR][1000 genomes]
rs4572275	0.85[EUR][1000 genomes]
rs4598784	0.86[EUR][1000 genomes]
rs4884024	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs4885359	0.81[EUR][1000 genomes]
rs4885360	0.81[EUR][1000 genomes]
rs4885361	0.81[EUR][1000 genomes]
rs6562924	0.91[CEU][hapmap]
rs7321447	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7329627	0.80[EUR][1000 genomes]
rs7981821	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs7986419	0.83[EUR][1000 genomes]
rs7986876	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs7987971	0.86[EUR][1000 genomes]
rs7995080	0.81[EUR][1000 genomes]
rs7996791	0.82[CEU][hapmap]
rs8001552	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9318381	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs9530473	0.87[CEU][hapmap]
rs9530477	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs9530479	0.81[EUR][1000 genomes]
rs9530481	0.81[EUR][1000 genomes]
rs9530484	0.81[EUR][1000 genomes]
rs9544057	0.88[CEU][hapmap];0.90[YRI][hapmap]
rs9544060	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs9544069	0.84[EUR][1000 genomes]
rs9600572	0.86[EUR][1000 genomes]
rs9600574	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs9600575	0.82[EUR][1000 genomes]
rs9600577	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs9600578	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs9600579	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs969394	0.81[EUR][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	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv832649	chr13:76424872-76657891	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7986288	C13orf45	cis	Nerve Tibial	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76440000-76469200	Weak transcription	HSMM	muscle
2	chr13:76451600-76455400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr13:76451800-76463600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:76454600-76455200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr13:76454800-76455200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:76454800-76455200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr13:76454800-76455600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:76454800-76455600	Enhancers	Fetal Stomach	stomach
9	chr13:76455000-76455400	Enhancers	Fetal Lung	lung
10	chr13:76455000-76455600	Enhancers	Fetal Kidney	kidney
11	chr13:76455000-76455600	Enhancers	GM12878-XiMat	blood

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