Variant report

Variant	rs8081462
Chromosome Location	chr17:38112190-38112191
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:38107392..38113362-chr17:38135377..38138663,7	K562	blood:

Variant related genes	Relation type
ENSG00000108344	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12451084	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12451100	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12601749	0.90[ASN][1000 genomes]
rs12603481	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35123741	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3893044	0.89[ASN][1000 genomes]
rs3894194	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3902025	0.90[ASN][1000 genomes]
rs4065985	0.89[ASN][1000 genomes]
rs4065986	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4795406	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4795408	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4795409	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55739615	0.90[ASN][1000 genomes]
rs56199421	0.90[ASN][1000 genomes]
rs62068170	0.87[ASN][1000 genomes]
rs62068171	0.89[ASN][1000 genomes]
rs6503525	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6503526	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7216564	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8069202	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8079416	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8080734	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
rs8081462	GSDMA	cis	Nerve Tibial	GTEx
rs8081462	GSDMA	cis	Esophagus Muscularis	GTEx
rs8081462	GSDMB	cis	Whole Blood	GTEx
rs8081462	ORMDL3	Cis_1M	lymphoblastoid	RTeQTL
rs8081462	GSDMA	cis	Thyroid	GTEx
rs8081462	GSDMA	cis	lung	GTEx
rs8081462	GSDMA	cis	Artery Aorta	GTEx
rs8081462	GSDMA	cis	Adipose Subcutaneous	GTEx
rs8081462	GSDMA	cis	Artery Tibial	GTEx

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38110000-38115400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr17:38110000-38115400	Weak transcription	Osteobl	bone
3	chr17:38110000-38118800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr17:38110200-38112200	Weak transcription	Fetal Muscle Leg	muscle
5	chr17:38110200-38115000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr17:38110200-38115000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr17:38110200-38115000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr17:38110200-38115000	Weak transcription	Colonic Mucosa	Colon
9	chr17:38110200-38115000	Weak transcription	NHEK	skin
10	chr17:38110200-38115200	Weak transcription	Primary T cells from cord blood	blood
11	chr17:38110200-38115200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr17:38110200-38115200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr17:38110200-38115200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr17:38110200-38115200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr17:38110200-38115200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr17:38110200-38115200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr17:38110200-38115200	Weak transcription	Adipose Nuclei	Adipose
18	chr17:38110200-38115200	Weak transcription	Liver	Liver
19	chr17:38110200-38115200	Weak transcription	Brain Angular Gyrus	brain
20	chr17:38110200-38115200	Weak transcription	Colon Smooth Muscle	Colon
21	chr17:38110200-38115200	Weak transcription	Fetal Intestine Large	intestine
22	chr17:38110200-38115200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr17:38110200-38115200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr17:38110200-38115200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr17:38110200-38115200	Weak transcription	HMEC	breast
26	chr17:38110200-38115200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr17:38110200-38115400	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr17:38110200-38115400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr17:38110200-38115400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr17:38110200-38115400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr17:38110200-38115400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr17:38110200-38115400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr17:38110200-38115400	Weak transcription	Fetal Intestine Small	intestine
34	chr17:38110200-38115400	Weak transcription	Stomach Mucosa	stomach
35	chr17:38110200-38115400	Weak transcription	Hela-S3	cervix
36	chr17:38110200-38116600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr17:38110200-38118600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr17:38110200-38118600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr17:38110400-38115200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr17:38110400-38115200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr17:38110400-38115200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr17:38110400-38115200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr17:38110400-38115200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr17:38110400-38115400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr17:38110400-38115400	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr17:38110600-38115200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr17:38110800-38115000	Weak transcription	Primary B cells from peripheral blood	blood
48	chr17:38110800-38115000	Weak transcription	GM12878-XiMat	blood
49	chr17:38110800-38115400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr17:38110800-38128800	Weak transcription	Gastric	stomach

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