Variant report

Variant	rs10817713
Chromosome Location	chr9:117889206-117889207
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10125663	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10982553	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1335332	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1414137	0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1537015	0.88[CEU][hapmap];0.81[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1537016	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1537720	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2071520	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4979496	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7853883	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs884290	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs945256	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs945257	0.91[AMR][1000 genomes];0.95[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	nsv615250	chr9:117768021-118012841	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised 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	4 gene(s)	inside rSNPs	diseases
2	nsv916912	chr9:117770039-118014140	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv893768	chr9:117853103-117903975	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv831697	chr9:117860416-118023927	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10817713	COL27A1	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117884000-117892600	Weak transcription	Colon Smooth Muscle	Colon
2	chr9:117888600-117889400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:117888800-117889600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:117888800-117889800	Enhancers	Fetal Muscle Leg	muscle
5	chr9:117888800-117890000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr9:117888800-117890200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr9:117888800-117890200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr9:117888800-117890400	Enhancers	HSMM	muscle
9	chr9:117888800-117890400	Enhancers	HSMMtube	muscle
10	chr9:117888800-117890400	Enhancers	NH-A	brain
11	chr9:117888800-117890400	Enhancers	NHLF	lung
12	chr9:117888800-117890400	Enhancers	Osteobl	bone
13	chr9:117888800-117890800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:117889000-117889800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr9:117889000-117890200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr9:117889000-117890400	Enhancers	NHDF-Ad	bronchial
17	chr9:117889200-117890200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr9:117889200-117890200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr9:117889200-117890400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr9:117889200-117890400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr9:117889200-117890400	Enhancers	Esophagus	oesophagus
22	chr9:117889200-117890400	Enhancers	HMEC	breast
23	chr9:117889200-117890400	Enhancers	NHEK	skin

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