Variant report

Variant	rs16936780
Chromosome Location	chr9:18483984-18483985
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10511658	1.00[AMR][1000 genomes]
rs11999281	0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12000949	0.86[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12000950	0.86[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12001004	0.91[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12001288	0.86[YRI][hapmap]
rs12001790	0.86[YRI][hapmap]
rs12002126	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12003118	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs12003267	0.92[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12003900	1.00[AMR][1000 genomes]
rs12005242	1.00[AMR][1000 genomes]
rs16936711	1.00[AMR][1000 genomes]
rs16936775	0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16936777	0.86[YRI][hapmap];0.80[AFR][1000 genomes]
rs16936815	0.86[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1856705	1.00[AMR][1000 genomes]
rs1888064	1.00[AMR][1000 genomes]
rs57153018	1.00[AMR][1000 genomes]
rs58068158	1.00[AMR][1000 genomes]
rs58526635	1.00[AMR][1000 genomes]
rs60199560	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60288112	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60561389	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6475217	1.00[AMR][1000 genomes]
rs7019792	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7040544	1.00[AMR][1000 genomes]
rs73417101	1.00[AMR][1000 genomes]
rs73418922	1.00[AMR][1000 genomes]
rs73418924	1.00[AMR][1000 genomes]
rs73418940	1.00[AMR][1000 genomes]
rs73421011	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73421013	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73421023	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73421030	1.00[AMR][1000 genomes]
rs73421031	1.00[AMR][1000 genomes]
rs73421035	1.00[AMR][1000 genomes]
rs870019	0.92[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][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	nsv892688	chr9:18385143-18551247	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1029449	chr9:18414752-18829127	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv540077	chr9:18414752-18829127	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	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

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18475200-18484800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr9:18476000-18485600	Weak transcription	Fetal Stomach	stomach
3	chr9:18477400-18489200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr9:18479000-18485200	Weak transcription	Fetal Heart	heart
5	chr9:18479200-18484600	Weak transcription	Fetal Muscle Leg	muscle
6	chr9:18479200-18490000	Weak transcription	Aorta	Aorta
7	chr9:18480600-18485600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr9:18480800-18485600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr9:18481000-18484000	Strong transcription	HSMM	muscle
10	chr9:18481000-18484400	Weak transcription	HSMMtube	muscle
11	chr9:18481400-18485200	Weak transcription	NH-A	brain
12	chr9:18482200-18484600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr9:18482600-18484600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr9:18482600-18492200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr9:18482800-18484600	Weak transcription	HUVEC	blood vessel
16	chr9:18482800-18485600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:18483000-18484000	Strong transcription	NHDF-Ad	bronchial
18	chr9:18483200-18484000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr9:18483200-18484400	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr9:18483200-18485000	Weak transcription	Osteobl	bone
21	chr9:18483400-18485200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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