Variant report

Variant	rs2546945
Chromosome Location	chr5:167450064-167450065
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10475863	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2546943	0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830546	chr5:167303135-167456271	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167423400-167455400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:167443200-167452000	Weak transcription	HSMM	muscle
3	chr5:167443800-167466000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:167446600-167453600	Weak transcription	Right Ventricle	heart
5	chr5:167447200-167450800	Enhancers	Left Ventricle	heart
6	chr5:167447600-167483000	Weak transcription	Right Atrium	heart
7	chr5:167447800-167451200	Weak transcription	NHEK	skin
8	chr5:167448000-167452000	Enhancers	Fetal Lung	lung
9	chr5:167449000-167450800	Enhancers	Rectal Smooth Muscle	rectum
10	chr5:167449400-167450200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:167449400-167450200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:167449400-167450400	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr5:167449400-167450600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr5:167449600-167450200	Flanking Active TSS	Brain Hippocampus Middle	brain
15	chr5:167449600-167451000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr5:167449800-167450200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:167449800-167450200	Flanking Active TSS	Brain Cingulate Gyrus	brain
18	chr5:167449800-167450200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
19	chr5:167449800-167450200	Flanking Active TSS	Colon Smooth Muscle	Colon
20	chr5:167449800-167450400	Flanking Active TSS	Brain Angular Gyrus	brain
21	chr5:167449800-167450400	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr5:167449800-167450600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:167449800-167450600	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr5:167449800-167450800	Enhancers	Brain Substantia Nigra	brain
25	chr5:167449800-167450800	Enhancers	Esophagus	oesophagus
26	chr5:167449800-167450800	Bivalent Enhancer	Fetal Stomach	stomach
27	chr5:167449800-167450800	Enhancers	Ovary	ovary
28	chr5:167449800-167451200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr5:167450000-167450400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr5:167450000-167450400	Flanking Active TSS	Brain Germinal Matrix	brain
31	chr5:167450000-167450400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr5:167450000-167450800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:167450000-167450800	Bivalent Enhancer	Fetal Muscle Leg	muscle
34	chr5:167450000-167451400	Enhancers	Fetal Brain Male	brain

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