Variant report

Variant	rs72832966
Chromosome Location	chr17:38100129-38100130
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs36006659	1.00[ASN][1000 genomes]
rs60701125	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7222093	1.00[ASN][1000 genomes]
rs7225565	1.00[ASN][1000 genomes]
rs72832957	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832958	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832961	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832962	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832964	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832965	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832971	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832987	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832988	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832989	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832991	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72834789	1.00[ASN][1000 genomes]
rs8065244	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9913535	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492308	chr17:38033039-38204458	Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72832966	GSDMA	cis	Whole Blood	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38094800-38100200	Weak transcription	Right Ventricle	heart
2	chr17:38096000-38104800	Weak transcription	Stomach Mucosa	stomach
3	chr17:38096400-38100200	Weak transcription	Left Ventricle	heart
4	chr17:38096400-38108400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr17:38097000-38104000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr17:38099600-38102800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr17:38099800-38100200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr17:38100000-38100400	Enhancers	Primary B cells from peripheral blood	blood
9	chr17:38100000-38100400	Enhancers	Liver	Liver
10	chr17:38100000-38100400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr17:38100000-38100600	Enhancers	Primary B cells from cord blood	blood
12	chr17:38100000-38100600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr17:38100000-38100800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr17:38100000-38101000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr17:38100000-38102400	Enhancers	Thymus	Thymus
16	chr17:38100000-38105800	Enhancers	Fetal Thymus	thymus

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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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