Variant report

Variant	rs72760135
Chromosome Location	chr5:54136574-54136575
allele	A/G
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:13)

rs_ID	r²[population]
rs72760125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72760134	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72760137	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72760143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72760146	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72760147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72760150	1.00[AFR][1000 genomes]
rs72760157	1.00[AFR][1000 genomes]
rs72762213	1.00[AFR][1000 genomes]
rs72762218	1.00[AFR][1000 genomes]
rs72762245	1.00[AFR][1000 genomes]
rs73755284	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7449307	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830300	chr5:54056300-54257344	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3358092	chr5:54077828-54189150	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54117200-54138000	Weak transcription	Aorta	Aorta
2	chr5:54131000-54140800	Weak transcription	Adipose Nuclei	Adipose
3	chr5:54132000-54137000	Weak transcription	Placenta	Placenta
4	chr5:54132000-54140800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:54132400-54136800	Weak transcription	Gastric	stomach
6	chr5:54133400-54138400	Weak transcription	NHLF	lung
7	chr5:54133800-54140600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr5:54134800-54140200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:54135000-54140000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:54135000-54140400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:54135800-54137600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:54135800-54140800	Weak transcription	Fetal Intestine Large	intestine
13	chr5:54136000-54137200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:54136000-54140800	Weak transcription	Liver	Liver

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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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