Variant report

Variant	rs56030650
Chromosome Location	chr17:38131187-38131188
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs3859191	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3859192	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3859193	0.83[AFR][1000 genomes]
rs3907022	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4065876	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4239225	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56326707	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60134943	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60137005	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];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:9)

SNP	Gene	Cis/trans	Tissue	Source
rs56030650	GSDMA	cis	Artery Tibial	GTEx
rs56030650	GSDMA	cis	Nerve Tibial	GTEx
rs56030650	MED24	cis	Artery Tibial	GTEx
rs56030650	GSDMA	cis	lung	GTEx
rs56030650	GSDMA	cis	Artery Aorta	GTEx
rs56030650	GSDMA	cis	Thyroid	GTEx
rs56030650	MED24	cis	Nerve Tibial	GTEx
rs56030650	GSDMA	cis	Esophagus Muscularis	GTEx
rs56030650	GSDMA	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38124000-38134600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr17:38128000-38131400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr17:38129000-38132200	Enhancers	K562	blood
4	chr17:38130200-38131200	Enhancers	Placenta	Placenta
5	chr17:38130200-38134600	Weak transcription	HMEC	breast
6	chr17:38130400-38134800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr17:38130400-38135200	Weak transcription	Osteobl	bone
8	chr17:38130400-38135400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr17:38130400-38135400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr17:38130600-38131200	Enhancers	Primary B cells from cord blood	blood
11	chr17:38130600-38131200	Bivalent Enhancer	HepG2	liver
12	chr17:38130600-38134400	Weak transcription	NHEK	skin
13	chr17:38130600-38134600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr17:38130600-38135200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr17:38130600-38135200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr17:38130800-38133000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr17:38131000-38134600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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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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