Variant report

Variant	rs72943788
Chromosome Location	chr4:148507888-148507889
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10305928	1.00[AMR][1000 genomes]
rs56742716	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60883134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72943768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72943792	0.93[AFR][1000 genomes]
rs72945825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv830110	chr4:148432125-148595119	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv428776	chr4:148432125-148595119	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148500000-148510800	Weak transcription	Ovary	ovary
2	chr4:148503600-148510800	Weak transcription	HSMM	muscle
3	chr4:148503600-148510800	Weak transcription	Osteobl	bone
4	chr4:148503800-148508400	Weak transcription	NHLF	lung
5	chr4:148503800-148510800	Weak transcription	HSMMtube	muscle
6	chr4:148505400-148509400	Weak transcription	Hela-S3	cervix
7	chr4:148506600-148510800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:148507000-148509200	Enhancers	Brain Substantia Nigra	brain
9	chr4:148507200-148508400	Enhancers	Brain Hippocampus Middle	brain
10	chr4:148507200-148508600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:148507200-148508600	Enhancers	GM12878-XiMat	blood
12	chr4:148507200-148508800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:148507200-148511400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:148507400-148508000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:148507400-148508200	Enhancers	Fetal Lung	lung
16	chr4:148507400-148508600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:148507400-148508600	Enhancers	NHDF-Ad	bronchial
18	chr4:148507400-148509000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr4:148507400-148509200	Enhancers	Brain Anterior Caudate	brain
20	chr4:148507400-148510400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr4:148507400-148510800	Weak transcription	Fetal Stomach	stomach
22	chr4:148507600-148510800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:148507800-148509200	Enhancers	Brain Cingulate Gyrus	brain

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