Variant report

Variant	rs11116832
Chromosome Location	chr12:85860984-85860985
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10746344	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10746346	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10746347	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10779161	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10779164	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10779167	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10779168	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10779169	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10779170	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10779173	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10779180	0.84[ASN][1000 genomes]
rs10779181	0.83[ASN][1000 genomes]
rs10779182	0.81[ASN][1000 genomes]
rs10862979	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10862990	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10862991	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10862993	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10862999	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10863000	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10863007	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10863008	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10863032	0.81[ASN][1000 genomes]
rs11116807	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11116833	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11116930	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11116934	0.84[ASN][1000 genomes]
rs11116935	0.84[ASN][1000 genomes]
rs11831266	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11835161	0.83[ASN][1000 genomes]
rs12578708	0.85[ASN][1000 genomes]
rs1398440	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1398442	0.97[ASN][1000 genomes]
rs1870933	0.88[ASN][1000 genomes]
rs1870935	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2199508	0.82[ASN][1000 genomes]
rs2199511	0.83[ASN][1000 genomes]
rs2199512	0.83[ASN][1000 genomes]
rs2199513	0.85[ASN][1000 genomes]
rs2199516	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2199517	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2199518	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2219711	0.83[ASN][1000 genomes]
rs2405248	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2405254	0.85[ASN][1000 genomes]
rs2405256	0.83[ASN][1000 genomes]
rs2405257	0.81[ASN][1000 genomes]
rs4761063	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4897817	0.84[ASN][1000 genomes]
rs4897825	0.83[ASN][1000 genomes]
rs6419420	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6419421	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6539899	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6539901	0.83[ASN][1000 genomes]
rs6539902	0.83[ASN][1000 genomes]
rs7133064	0.83[ASN][1000 genomes]
rs7133855	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7134486	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7136236	0.88[ASN][1000 genomes]
rs7295445	0.83[ASN][1000 genomes]
rs7297262	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7302629	0.83[ASN][1000 genomes]
rs7303316	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7304475	0.81[ASN][1000 genomes]
rs7316167	0.85[ASN][1000 genomes]
rs7485084	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7485590	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7486767	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7487599	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7955601	0.81[ASN][1000 genomes]
rs7957797	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7973153	0.81[ASN][1000 genomes]
rs7973323	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7977259	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs898986	0.88[ASN][1000 genomes]
rs9788015	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9788074	0.80[EUR][1000 genomes];0.90[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	esv1792335	chr12:85321249-86003609	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv817242	chr12:85622245-86069213	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1054573	chr12:85658602-86235433	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1035600	chr12:85661373-86235433	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1053044	chr12:85843030-85942504	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1036617	chr12:85855093-86010549	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11116832	RASSF9	cis	Esophagus Mucosa	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85857200-85861200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:85858600-85861400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr12:85858600-85862600	Enhancers	HSMM	muscle
4	chr12:85858600-85862600	Enhancers	NHEK	skin
5	chr12:85858600-85863000	Enhancers	HMEC	breast
6	chr12:85859600-85861800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:85859600-85862000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:85859600-85862000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:85859600-85862200	Weak transcription	HSMMtube	muscle
10	chr12:85859800-85861000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:85859800-85862400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:85860000-85862200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr12:85860000-85862400	Weak transcription	Fetal Kidney	kidney
14	chr12:85860200-85862600	Enhancers	Hela-S3	cervix
15	chr12:85860400-85862000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:85860800-85861600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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