Variant report

Variant	rs2478325
Chromosome Location	chr13:48121505-48121506
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1326487	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1326490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1326492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1326493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1409490	0.83[AFR][1000 genomes]
rs2503425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2503445	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2503446	1.00[AMR][1000 genomes]
rs59817405	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74073875	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74073876	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9534676	0.92[AFR][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	esv2763019	chr13:47348229-48123447	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv3450125	chr13:47919050-48236684	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv455879	chr13:47919611-48190106	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv561588	chr13:47943829-48190106	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv900065	chr13:48106733-48215874	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48119200-48123000	Enhancers	Fetal Stomach	stomach
2	chr13:48120400-48121600	Weak transcription	Right Atrium	heart
3	chr13:48120800-48121800	Weak transcription	Fetal Kidney	kidney
4	chr13:48121200-48121600	Enhancers	Rectal Smooth Muscle	rectum
5	chr13:48121400-48122600	Weak transcription	Colon Smooth Muscle	Colon

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Input of quick search could be:

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

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