Variant report

Variant	rs16936775
Chromosome Location	chr9:18479171-18479172
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10511658	0.81[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11999281	0.86[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12000949	0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12000950	0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12001004	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12001288	0.93[YRI][hapmap]
rs12001790	0.93[YRI][hapmap]
rs12002126	1.00[AMR][1000 genomes]
rs12003118	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs12003267	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12003900	1.00[AMR][1000 genomes]
rs12005242	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs16936711	1.00[AMR][1000 genomes]
rs16936729	0.81[AFR][1000 genomes]
rs16936777	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs16936780	0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16936815	0.93[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1856705	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1888064	1.00[AMR][1000 genomes]
rs57153018	1.00[AMR][1000 genomes]
rs58068158	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58526635	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60199560	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60288112	0.83[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	0.91[YRI][hapmap];0.91[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	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73421013	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73421023	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73421030	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73421031	1.00[AMR][1000 genomes]
rs73421035	1.00[AMR][1000 genomes]
rs870019	0.85[YRI][hapmap];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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18474800-18480200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr9:18475200-18484800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr9:18475400-18481600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr9:18475400-18482600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr9:18476000-18485600	Weak transcription	Fetal Stomach	stomach
6	chr9:18476200-18479800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
7	chr9:18477000-18479400	Flanking Active TSS	NH-A	brain
8	chr9:18477400-18489200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr9:18477600-18481600	Weak transcription	HUVEC	blood vessel
10	chr9:18478000-18479200	Flanking Active TSS	HSMM	muscle
11	chr9:18478200-18482800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr9:18478400-18479200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:18478400-18479400	Flanking Active TSS	HSMMtube	muscle
14	chr9:18478400-18480400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr9:18478600-18479200	Enhancers	Aorta	Aorta
16	chr9:18478600-18479200	Enhancers	Fetal Muscle Leg	muscle
17	chr9:18478600-18479400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:18478600-18479800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr9:18478600-18480000	Enhancers	NHLF	lung
20	chr9:18478800-18479200	Enhancers	Brain Cingulate Gyrus	brain
21	chr9:18478800-18479200	Enhancers	NHDF-Ad	bronchial
22	chr9:18478800-18479600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr9:18478800-18480400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr9:18478800-18480400	Enhancers	Osteobl	bone
25	chr9:18479000-18479200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr9:18479000-18479200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr9:18479000-18479200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr9:18479000-18479200	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr9:18479000-18479600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr9:18479000-18479800	Weak transcription	Brain Substantia Nigra	brain
31	chr9:18479000-18485200	Weak transcription	Fetal Heart	heart

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