Variant report

Variant	rs3848395
Chromosome Location	chr17:38101468-38101469
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38101089..38105078-chr17:38105781..38110100,7	K562	blood:
2	chr17:38098844..38100941-chr17:38101292..38104477,4	K562	blood:
3	chr17:38082948..38085904-chr17:38100401..38102621,2	K562	blood:
4	chr17:38095595..38098522-chr17:38100216..38104569,3	K562	blood:

Variant related genes	Relation type
ENSG00000204913	Chromatin interaction
ENSG00000172057	Chromatin interaction
ENSG00000264968	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1007654	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1007655	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11869855	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1563103	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17609240	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2001476	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2313640	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28618095	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3902024	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3931960	0.87[ASN][1000 genomes]
rs4134501	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4458030	0.88[EUR][1000 genomes]
rs55860944	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56396280	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60667221	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62068174	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62068175	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62068176	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62068177	0.83[EUR][1000 genomes]
rs62068178	0.83[EUR][1000 genomes]
rs62068179	0.85[EUR][1000 genomes]
rs62068180	0.84[EUR][1000 genomes]
rs62068181	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62068182	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62068183	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62068184	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6503527	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7207600	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7209742	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7218321	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7218742	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7219080	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7223318	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8065126	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8068522	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8071050	0.88[ASN][1000 genomes]
rs8076474	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8081437	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9889711	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9889716	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9895948	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[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
rs3848395	GSDMA	cis	Esophagus Muscularis	GTEx
rs3848395	GSDMA	cis	Adipose Subcutaneous	GTEx
rs3848395	GSDMA	cis	Thyroid	GTEx
rs3848395	GSDMA	cis	lung	GTEx
rs3848395	GSDMA	cis	Artery Aorta	GTEx
rs3848395	GSDMA	cis	Nerve Tibial	GTEx
rs3848395	GSDMA	cis	Artery Tibial	GTEx
rs3848395	ORMDL3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38096000-38104800	Weak transcription	Stomach Mucosa	stomach
2	chr17:38096400-38108400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr17:38097000-38104000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr17:38099600-38102800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr17:38100000-38102400	Enhancers	Thymus	Thymus
6	chr17:38100000-38105800	Enhancers	Fetal Thymus	thymus
7	chr17:38100400-38104000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr17:38100600-38103800	Weak transcription	Primary B cells from cord blood	blood
9	chr17:38100800-38106800	Weak transcription	Spleen	Spleen
10	chr17:38100800-38107200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr17:38100800-38108400	Weak transcription	Esophagus	oesophagus
12	chr17:38101000-38103000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr17:38101000-38106200	Weak transcription	Liver	Liver

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