Variant report

Variant	rs72784039
Chromosome Location	chr5:118292279-118292280
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11959589	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17144872	0.82[ASN][1000 genomes]
rs17144877	0.82[ASN][1000 genomes]
rs17144883	0.82[ASN][1000 genomes]
rs17144885	0.82[ASN][1000 genomes]
rs17144893	0.82[ASN][1000 genomes]
rs2084460	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34671950	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4392657	0.82[ASN][1000 genomes]
rs55741500	0.82[ASN][1000 genomes]
rs55805551	0.82[ASN][1000 genomes]
rs55968902	0.84[EUR][1000 genomes]
rs56664193	0.82[ASN][1000 genomes]
rs73240722	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7706037	0.82[ASN][1000 genomes]
rs7723221	0.92[ASN][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	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1017548	chr5:118276479-118358394	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1015878	chr5:118288904-118414706	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537881	chr5:118288904-118414706	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv3348828	chr5:118292220-118292604	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118225400-118300400	Weak transcription	Primary B cells from cord blood	blood
2	chr5:118259600-118305000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr5:118263000-118306000	Weak transcription	Primary T cells from cord blood	blood
4	chr5:118263400-118304000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr5:118273600-118295400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:118282200-118304200	Weak transcription	Right Atrium	heart
7	chr5:118288400-118300000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:118289800-118298600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr5:118289800-118299000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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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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