Variant report

Variant	rs12003497
Chromosome Location	chr9:18348218-18348219
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12000293	1.00[EUR][1000 genomes]
rs16936580	1.00[EUR][1000 genomes]
rs16936583	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2245301	1.00[EUR][1000 genomes]
rs4573374	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6475211	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6475212	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6475213	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7021072	1.00[EUR][1000 genomes]
rs73429000	1.00[EUR][1000 genomes]
rs7873524	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv892684	chr9:18261485-18401585	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats 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
7	nsv892687	chr9:18303691-18430297	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv525743	chr9:18312578-18359014	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18333400-18368200	Weak transcription	Aorta	Aorta
2	chr9:18346400-18348800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:18346600-18348400	Enhancers	Fetal Heart	heart
4	chr9:18346600-18362000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:18346800-18348400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr9:18346800-18348400	Enhancers	HSMM	muscle
7	chr9:18346800-18351800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr9:18347000-18348400	Enhancers	Stomach Smooth Muscle	stomach
9	chr9:18347200-18348800	Enhancers	Brain Hippocampus Middle	brain
10	chr9:18347600-18348400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr9:18347600-18348400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr9:18347600-18348400	Enhancers	Brain Angular Gyrus	brain
13	chr9:18347600-18348400	Enhancers	Brain Cingulate Gyrus	brain
14	chr9:18347600-18348400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr9:18347600-18348400	Enhancers	Right Ventricle	heart
16	chr9:18347600-18348400	Enhancers	HUVEC	blood vessel
17	chr9:18347600-18348400	Enhancers	NHDF-Ad	bronchial
18	chr9:18347600-18348800	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr9:18347600-18360400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr9:18347800-18348400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr9:18348000-18349600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr9:18348000-18354400	Weak transcription	HSMMtube	muscle
23	chr9:18348200-18357400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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