Variant report

Variant	rs58948052
Chromosome Location	chr4:18737151-18737152
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10012050	1.00[ASN][1000 genomes]
rs28671154	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56814746	1.00[EUR][1000 genomes]
rs60985533	1.00[EUR][1000 genomes]
rs72619143	1.00[EUR][1000 genomes]
rs72619145	1.00[EUR][1000 genomes]
rs72619146	1.00[EUR][1000 genomes]
rs72619147	1.00[EUR][1000 genomes]
rs72619148	1.00[EUR][1000 genomes]
rs73102316	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003931	chr4:18241575-18849898	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv533087	chr4:18362040-19176896	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv532708	chr4:18596861-19176896	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv878722	chr4:18668957-18741988	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv878723	chr4:18668957-19005988	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:18735200-18737800	Enhancers	Fetal Heart	heart
2	chr4:18735200-18737800	Enhancers	Rectal Smooth Muscle	rectum
3	chr4:18735600-18737600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:18735800-18737600	Enhancers	Fetal Stomach	stomach
5	chr4:18735800-18737800	Enhancers	Colon Smooth Muscle	Colon
6	chr4:18736000-18737600	Enhancers	Fetal Muscle Leg	muscle
7	chr4:18736400-18737800	Enhancers	Fetal Lung	lung
8	chr4:18736600-18739200	Weak transcription	Brain Anterior Caudate	brain
9	chr4:18736600-18739200	Weak transcription	Brain Substantia Nigra	brain
10	chr4:18736600-18739600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr4:18736800-18739200	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:18737000-18739200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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