Variant report

Variant	rs72684971
Chromosome Location	chr9:18256309-18256310
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11790387	0.81[EUR][1000 genomes]
rs11794203	0.81[EUR][1000 genomes]
rs34509703	1.00[ASN][1000 genomes]
rs56316407	0.81[EUR][1000 genomes]
rs72684934	0.81[EUR][1000 genomes]
rs72684944	0.81[EUR][1000 genomes]
rs72684969	0.90[EUR][1000 genomes]
rs72684970	0.90[EUR][1000 genomes]
rs72684974	0.90[EUR][1000 genomes]
rs72684975	0.90[EUR][1000 genomes]
rs72684976	0.85[EUR][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	nsv1021605	chr9:18002205-18271109	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv892680	chr9:18089614-18267185	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv892682	chr9:18166112-18272700	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv831522	chr9:18231982-18459492	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	esv2764161	chr9:18247433-18443060	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18225800-18260600	Weak transcription	Aorta	Aorta
2	chr9:18255200-18256400	Enhancers	Fetal Kidney	kidney
3	chr9:18255200-18256600	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr9:18255200-18260400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr9:18255400-18256600	Enhancers	Colon Smooth Muscle	Colon
6	chr9:18255400-18256600	Enhancers	NHLF	lung
7	chr9:18255400-18256800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:18255400-18256800	Enhancers	Fetal Heart	heart
9	chr9:18255400-18256800	Enhancers	Osteobl	bone
10	chr9:18255400-18257000	Enhancers	NHDF-Ad	bronchial
11	chr9:18255600-18256800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr9:18255600-18257000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr9:18255600-18260000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr9:18255800-18256400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr9:18255800-18256600	Enhancers	NH-A	brain
16	chr9:18256000-18256400	Enhancers	Lung	lung
17	chr9:18256000-18260400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr9:18256000-18260400	Weak transcription	Fetal Stomach	stomach
19	chr9:18256200-18256600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr9:18256200-18256600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr9:18256200-18256800	Enhancers	Fetal Lung	lung
22	chr9:18256200-18256800	Enhancers	Right Atrium	heart
23	chr9:18256200-18257000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr9:18256200-18261200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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