Variant report

Variant	rs4721753
Chromosome Location	chr7:19352138-19352139
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10950714	0.83[AFR][1000 genomes]
rs11768802	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11974679	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12532309	0.81[AFR][1000 genomes]
rs12539237	0.83[AMR][1000 genomes]
rs12540501	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12700029	0.84[AMR][1000 genomes]
rs12700030	0.82[AMR][1000 genomes]
rs12700031	0.83[AMR][1000 genomes]
rs12700032	0.83[AMR][1000 genomes]
rs13221528	0.83[AFR][1000 genomes]
rs13232886	0.83[AFR][1000 genomes]
rs1465297	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17437525	0.84[AMR][1000 genomes]
rs4236294	0.82[AMR][1000 genomes]
rs4409312	0.83[AMR][1000 genomes]
rs4721757	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4721758	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs56162247	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6970576	0.85[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	nsv532096	chr7:19094324-19361216	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1022118	chr7:19178075-19518160	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv887819	chr7:19262091-19658389	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1018601	chr7:19272360-20008881	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
5	nsv1021194	chr7:19290916-19521199	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1021305	chr7:19295678-19353112	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv521853	chr7:19327088-19359782	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19351400-19352400	Enhancers	Brain Substantia Nigra	brain
2	chr7:19351600-19352400	Enhancers	Brain Cingulate Gyrus	brain
3	chr7:19351800-19352600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:19352000-19353400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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