Variant report

Variant	rs4458030
Chromosome Location	chr17:38121706-38121707
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr17:38121481-38122087	SK-N-SH	brain:	n/a	n/a
2	EP300	chr17:38121615-38121833	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:38115298..38120283-chr17:38120619..38125449,6	K562	blood:

Variant related genes	Relation type
GSDMA	TF binding region
ENSG00000167914	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1007654	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1007655	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11869855	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1563103	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17609240	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2001476	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2313640	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28618095	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3848395	0.88[EUR][1000 genomes]
rs3902024	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3931960	0.89[ASN][1000 genomes]
rs4134501	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55860944	0.82[EUR][1000 genomes]
rs56301252	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56396280	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60667221	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62068174	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62068175	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62068176	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62068177	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62068178	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62068179	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62068180	0.85[EUR][1000 genomes]
rs62068181	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62068182	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62068183	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62068184	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6503527	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7207600	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7209742	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7218321	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7218742	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7219080	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7223318	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8065126	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8068522	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8071050	0.86[ASN][1000 genomes]
rs8076474	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8081437	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9889711	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9889716	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9895948	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[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:8)

SNP	Gene	Cis/trans	Tissue	Source
rs4458030	GSDMA	cis	Nerve Tibial	GTEx
rs4458030	GSDMA	cis	Thyroid	GTEx
rs4458030	ORMDL3	Cis_1M	lymphoblastoid	RTeQTL
rs4458030	GSDMA	cis	Artery Tibial	GTEx
rs4458030	GSDMA	cis	lung	GTEx
rs4458030	GSDMA	cis	Artery Aorta	GTEx
rs4458030	GSDMA	cis	Esophagus Muscularis	GTEx
rs4458030	GSDMA	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38110800-38128800	Weak transcription	Gastric	stomach
2	chr17:38111600-38126800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr17:38115600-38125000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr17:38115800-38123000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr17:38116200-38123400	Weak transcription	Primary B cells from cord blood	blood
6	chr17:38119000-38122400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr17:38120600-38121800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr17:38120600-38121800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr17:38120600-38122000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr17:38120600-38123200	Weak transcription	HMEC	breast
11	chr17:38120600-38123400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr17:38121000-38121800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr17:38121000-38122800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr17:38121000-38122800	Weak transcription	NHEK	skin
15	chr17:38121200-38121800	Bivalent Enhancer	Fetal Stomach	stomach
16	chr17:38121200-38122000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr17:38121600-38121800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr17:38121600-38122000	Enhancers	Placenta	Placenta
19	chr17:38121600-38122200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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