Variant report

Variant	rs10982611
Chromosome Location	chr9:117975864-117975865
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10114075	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10817725	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10982606	0.81[JPT][hapmap]
rs1335352	0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs1335357	0.97[CHD][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs1335358	0.83[JPT][hapmap];0.92[ASN][1000 genomes]
rs1414152	0.93[ASN][1000 genomes]
rs1889651	0.94[CHD][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs4147050	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4606132	0.81[EUR][1000 genomes]
rs7871382	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	nsv893769	chr9:117936903-117985886	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv615251	chr9:117975864-118514444	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117963000-117977200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr9:117967800-117979400	Weak transcription	Aorta	Aorta
3	chr9:117969000-117976800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:117969400-117976000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr9:117972400-117976400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr9:117973000-117976600	Enhancers	NHDF-Ad	bronchial
7	chr9:117973600-117976600	Enhancers	Fetal Lung	lung
8	chr9:117973600-117977000	Enhancers	Fetal Stomach	stomach
9	chr9:117973800-117976600	Enhancers	Adipose Nuclei	Adipose
10	chr9:117973800-117976800	Enhancers	NH-A	brain
11	chr9:117973800-117977000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr9:117973800-117977000	Enhancers	Colon Smooth Muscle	Colon
13	chr9:117973800-117977000	Enhancers	Rectal Smooth Muscle	rectum
14	chr9:117973800-117977800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr9:117974000-117976400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:117974200-117976000	Weak transcription	Liver	Liver
17	chr9:117974200-117976000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr9:117974200-117976200	Weak transcription	Placenta	Placenta
19	chr9:117974200-117976600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:117974200-117976600	Enhancers	HSMM	muscle
21	chr9:117974200-117977000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr9:117974200-117982400	Weak transcription	Brain Germinal Matrix	brain
23	chr9:117974400-117976000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr9:117974600-117976200	Enhancers	Brain Anterior Caudate	brain
25	chr9:117974600-117976800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr9:117974800-117976000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr9:117974800-117976000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr9:117974800-117976000	Weak transcription	Fetal Muscle Leg	muscle
29	chr9:117974800-117976000	Weak transcription	NHLF	lung
30	chr9:117974800-117976200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr9:117974800-117976600	Enhancers	Brain Hippocampus Middle	brain
32	chr9:117975000-117976000	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr9:117975000-117976000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr9:117975200-117976000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr9:117975400-117977000	Enhancers	GM12878-XiMat	blood
36	chr9:117975400-117977000	Enhancers	HMEC	breast
37	chr9:117975400-117982400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr9:117975600-117976600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr9:117975600-117976600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr9:117975600-117976800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr9:117975600-117976800	Enhancers	Osteobl	bone
42	chr9:117975600-117977000	Enhancers	NHEK	skin
43	chr9:117975800-117976000	Enhancers	Fetal Kidney	kidney
44	chr9:117975800-117976600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr9:117975800-117976600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr9:117975800-117976600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr9:117975800-117976600	Enhancers	Fetal Brain Female	brain
48	chr9:117975800-117976600	Enhancers	HSMMtube	muscle
49	chr9:117975800-117976800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr9:117975800-117977000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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