Variant report

Variant	rs1814370
Chromosome Location	chr9:18853257-18853258
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10116387	0.94[JPT][hapmap]
rs12340428	0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12346023	0.93[CEU][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12346025	0.93[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1816447	0.94[JPT][hapmap]
rs1821377	0.94[JPT][hapmap]
rs2082580	0.89[JPT][hapmap]
rs28622015	0.84[AMR][1000 genomes]
rs7023129	0.94[JPT][hapmap]
rs934467	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv1030931	chr9:18414752-18903530	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS 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	6 gene(s)	inside rSNPs	diseases
5	nsv892692	chr9:18519699-19045502	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv949111	chr9:18758205-18994588	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv892698	chr9:18830444-18905289	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1814370	ADAMTSL1	cis	cerebellum	SCAN
rs1814370	IFNB1	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18825400-18857200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr9:18825600-18857400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:18827200-18861600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr9:18830800-18857400	Weak transcription	NHLF	lung
5	chr9:18845200-18853600	Strong transcription	HSMM	muscle
6	chr9:18845200-18854200	Strong transcription	Osteobl	bone
7	chr9:18845200-18854800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:18845800-18861200	Weak transcription	Aorta	Aorta
9	chr9:18845800-18861800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr9:18846800-18853400	Weak transcription	HSMMtube	muscle
11	chr9:18847400-18858400	Weak transcription	NH-A	brain
12	chr9:18847800-18858600	Weak transcription	Gastric	stomach
13	chr9:18849200-18853800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr9:18849400-18861200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr9:18849600-18857400	Weak transcription	Stomach Mucosa	stomach
16	chr9:18849600-18858200	Weak transcription	Right Atrium	heart
17	chr9:18850600-18858200	Weak transcription	Lung	lung
18	chr9:18850800-18860800	Weak transcription	Fetal Stomach	stomach
19	chr9:18851800-18861200	Weak transcription	Fetal Muscle Leg	muscle
20	chr9:18852000-18855000	Weak transcription	Colon Smooth Muscle	Colon
21	chr9:18852000-18857600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr9:18852000-18861200	Weak transcription	Left Ventricle	heart
23	chr9:18852400-18853400	Strong transcription	NHDF-Ad	bronchial
24	chr9:18852400-18853600	Weak transcription	Fetal Heart	heart
25	chr9:18852400-18856800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr9:18852400-18861200	Weak transcription	Right Ventricle	heart

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