Variant report

Variant	rs10992265
Chromosome Location	chr9:94943782-94943783
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94939916..94941677-chr9:94943459..94945410,2	K562	blood:
2	chr9:94942048..94944825-chr9:94955253..94957515,2	MCF-7	breast:
3	chr9:94874983..94876627-chr9:94942419..94945391,2	K562	blood:
4	chr9:94939871..94945930-chr9:94946587..94952427,7	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10081693	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10119535	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10123080	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10156530	0.82[ASN][1000 genomes]
rs10283718	0.91[ASN][1000 genomes]
rs10820954	0.91[ASN][1000 genomes]
rs10820956	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10820962	0.91[ASN][1000 genomes]
rs10820963	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10820970	0.91[ASN][1000 genomes]
rs10992266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10992267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10992270	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10992308	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10992312	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10992314	0.91[ASN][1000 genomes]
rs10992334	0.91[ASN][1000 genomes]
rs12345822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12349712	0.91[ASN][1000 genomes]
rs12352447	0.91[ASN][1000 genomes]
rs1447114	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3858097	0.94[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs3889951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58391046	0.91[ASN][1000 genomes]
rs60993552	0.91[ASN][1000 genomes]
rs6479412	0.91[ASN][1000 genomes]
rs6479413	0.91[ASN][1000 genomes]
rs7036078	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7860297	0.91[ASN][1000 genomes]
rs7863859	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7873882	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9695754	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv917089	chr9:94857047-95099848	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv969760	chr9:94877924-94966209	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv893572	chr9:94891778-94944778	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10992265	CENPP	cis	Esophagus Muscularis	GTEx
rs10992265	CENPP	cis	Adipose Subcutaneous	GTEx
rs10992265	CENPP	cis	Artery Tibial	GTEx
rs10992265	CENPP	cis	Nerve Tibial	GTEx
rs10992265	CENPP	cis	Muscle Skeletal	GTEx

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94938600-94943800	Weak transcription	Gastric	stomach
2	chr9:94941400-94944000	Enhancers	Fetal Muscle Leg	muscle
3	chr9:94941400-94944000	Enhancers	K562	blood
4	chr9:94941400-94944200	Enhancers	HSMMtube	muscle
5	chr9:94941600-94944000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr9:94942400-94944000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr9:94942400-94944000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr9:94942600-94943800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:94942600-94943800	Enhancers	Duodenum Mucosa	Duodenum
10	chr9:94942600-94944000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr9:94942600-94944000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr9:94942600-94944000	Enhancers	Placenta	Placenta
13	chr9:94942600-94944000	Enhancers	GM12878-XiMat	blood
14	chr9:94942600-94944000	Enhancers	HSMM	muscle
15	chr9:94942600-94944200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr9:94942800-94943800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr9:94942800-94943800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr9:94942800-94943800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:94942800-94943800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr9:94942800-94943800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr9:94942800-94943800	Enhancers	NH-A	brain
22	chr9:94942800-94943800	Enhancers	NHDF-Ad	bronchial
23	chr9:94942800-94943800	Enhancers	Osteobl	bone
24	chr9:94942800-94944000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr9:94942800-94944000	Enhancers	Fetal Stomach	stomach
26	chr9:94942800-94944000	Enhancers	NHLF	lung
27	chr9:94942800-94944200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr9:94943000-94943800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr9:94943000-94944000	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr9:94943000-94944200	Enhancers	Placenta Amnion	Placenta Amnion
31	chr9:94943200-94943800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr9:94943400-94943800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:94943400-94943800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr9:94943400-94943800	Enhancers	Spleen	Spleen
35	chr9:94943400-94943800	Enhancers	HepG2	liver
36	chr9:94943400-94944000	Enhancers	Primary hematopoietic stem cells	blood
37	chr9:94943600-94943800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr9:94943600-94943800	Bivalent Enhancer	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links