Variant report

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:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ORMDL3-2	chr17:38101833-38102109	NONHSAT053502

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12451084	0.81[ASN][1000 genomes]
rs12451100	0.82[ASN][1000 genomes]
rs12601749	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12603481	0.98[ASN][1000 genomes]
rs35123741	0.98[ASN][1000 genomes]
rs3893044	0.88[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3902025	0.84[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4065986	0.83[ASN][1000 genomes]
rs4795406	0.94[ASN][1000 genomes]
rs4795408	0.86[ASN][1000 genomes]
rs55739615	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56199421	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62068170	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62068171	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6503525	0.83[CHB][hapmap];0.87[JPT][hapmap];0.91[ASN][1000 genomes]
rs6503526	0.85[ASN][1000 genomes]
rs7207600	0.95[YRI][hapmap]
rs7216564	0.89[ASN][1000 genomes]
rs7218742	0.95[YRI][hapmap]
rs8079416	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs8080734	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8081462	0.89[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
rs4065985	GSDMA	cis	Artery Aorta	GTEx
rs4065985	GSDML	Cis_1M	lymphoblastoid	RTeQTL
rs4065985	GSDMA	cis	lung	GTEx
rs4065985	GSDMA	cis	Artery Tibial	GTEx
rs4065985	GSDMA	cis	Thyroid	GTEx
rs4065985	ORMDL3	Cis_1M	lymphoblastoid	RTeQTL
rs4065985	GSDMA	cis	Esophagus Muscularis	GTEx
rs4065985	GSDMA	cis	Nerve Tibial	GTEx
rs4065985	GSDMA	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:14 , 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
14	chr17:38101600-38104800	Weak transcription	Lung	lung

Quick Search: