Variant report

Variant	rs2245301
Chromosome Location	chr9:18268397-18268398
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12000293	1.00[EUR][1000 genomes]
rs12003497	1.00[EUR][1000 genomes]
rs1340046	1.00[AMR][1000 genomes]
rs1417041	1.00[AMR][1000 genomes]
rs16936580	1.00[EUR][1000 genomes]
rs16936583	1.00[EUR][1000 genomes]
rs4573374	1.00[EUR][1000 genomes]
rs4961464	1.00[AMR][1000 genomes]
rs6475211	1.00[EUR][1000 genomes]
rs6475212	1.00[EUR][1000 genomes]
rs6475213	1.00[EUR][1000 genomes]
rs7021072	1.00[EUR][1000 genomes]
rs73429000	1.00[EUR][1000 genomes]
rs7873524	1.00[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	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
3	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
4	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
5	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
6	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

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18262400-18268400	Weak transcription	NHEK	skin
2	chr9:18265200-18270200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:18266200-18269400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:18266800-18268400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr9:18267200-18268400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr9:18267200-18269000	Enhancers	NHDF-Ad	bronchial
7	chr9:18267200-18269400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr9:18267400-18268600	Enhancers	HMEC	breast
9	chr9:18267400-18269400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:18267800-18269000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr9:18268000-18268800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr9:18268000-18269000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr9:18268000-18269000	Enhancers	HSMM	muscle
14	chr9:18268000-18269400	Enhancers	HUVEC	blood vessel
15	chr9:18268000-18269400	Enhancers	NHLF	lung
16	chr9:18268200-18269000	Enhancers	NH-A	brain
17	chr9:18268200-18269200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:18268200-18269400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr9:18268200-18269400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr9:18268200-18269600	Enhancers	Osteobl	bone
21	chr9:18268200-18270200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr9:18268200-18270400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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