Variant report

Variant	rs8074437
Chromosome Location	chr17:38076137-38076138
allele	G/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	HEY1	chr17:38076113-38078575	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:38073834..38076577-chr17:38077829..38081795,4	MCF-7	breast:
2	chr17:38073305..38078163-chr17:38135913..38140017,5	K562	blood:
3	chr17:38073305..38078633-chr17:38135671..38140017,6	K562	blood:

Variant related genes	Relation type
GSDMB	TF binding region
ENSG00000172057	Chromatin interaction
ENSG00000108344	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1008723	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1011082	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1031458	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1031460	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11078925	0.92[ASN][1000 genomes]
rs11078926	0.94[ASN][1000 genomes]
rs11078927	0.94[ASN][1000 genomes]
rs11078928	0.94[ASN][1000 genomes]
rs11557466	0.92[ASN][1000 genomes]
rs11557467	0.93[ASN][1000 genomes]
rs11650661	0.94[ASN][1000 genomes]
rs11651596	0.93[ASN][1000 genomes]
rs11655198	0.94[ASN][1000 genomes]
rs11655292	0.94[ASN][1000 genomes]
rs11870965	0.94[ASN][1000 genomes]
rs12103884	0.94[ASN][1000 genomes]
rs12453507	0.87[ASN][1000 genomes]
rs12603332	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12709365	0.94[ASN][1000 genomes]
rs12936231	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12936409	0.93[ASN][1000 genomes]
rs12939832	0.93[ASN][1000 genomes]
rs12946393	0.83[ASN][1000 genomes]
rs12949100	0.94[ASN][1000 genomes]
rs12950209	0.94[ASN][1000 genomes]
rs12950743	0.94[ASN][1000 genomes]
rs13380815	0.94[ASN][1000 genomes]
rs1453559	0.92[ASN][1000 genomes]
rs2290400	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2305479	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2305480	0.94[ASN][1000 genomes]
rs2872516	0.94[ASN][1000 genomes]
rs34120102	0.94[ASN][1000 genomes]
rs36000226	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3744246	0.84[ASN][1000 genomes]
rs4065275	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4794820	0.92[ASN][1000 genomes]
rs4795397	0.92[ASN][1000 genomes]
rs4795399	0.94[ASN][1000 genomes]
rs4795400	0.98[ASN][1000 genomes]
rs4795401	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4795402	0.83[ASN][1000 genomes]
rs4795403	0.83[ASN][1000 genomes]
rs4795404	0.83[ASN][1000 genomes]
rs4795405	0.92[ASN][1000 genomes]
rs56380902	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62067034	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6503524	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7213668	0.81[ASN][1000 genomes]
rs7216389	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7216558	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7219923	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7221605	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7221814	0.81[ASN][1000 genomes]
rs7224129	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7224908	0.83[ASN][1000 genomes]
rs7359623	0.94[ASN][1000 genomes]
rs8065777	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8067378	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8069176	0.94[ASN][1000 genomes]
rs8076131	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs869402	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs883770	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs921649	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs921650	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9303279	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9303280	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9303281	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9906951	0.93[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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs8074437	GSDMB	cis	Whole Blood	GTEx
rs8074437	ORMDL3	Cis_1M	lymphoblastoid	RTeQTL
rs8074437	GSDML	Cis_1M	lymphoblastoid	RTeQTL
rs8074437	ORMDL3	cis	Whole Blood	GTEx
rs8074437	GSDMA	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38055600-38077400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:38057600-38076600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr17:38057800-38077600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr17:38058200-38076200	Weak transcription	Fetal Lung	lung
5	chr17:38058200-38077800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr17:38058600-38077400	Weak transcription	Colon Smooth Muscle	Colon
7	chr17:38059000-38082400	Weak transcription	Psoas Muscle	Psoas
8	chr17:38059800-38077200	Weak transcription	Esophagus	oesophagus
9	chr17:38060000-38077400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr17:38060400-38081600	Weak transcription	Fetal Brain Male	brain
11	chr17:38061800-38081000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr17:38062800-38078200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr17:38063600-38077000	Weak transcription	Pancreas	Pancrea
14	chr17:38066600-38078000	Weak transcription	Fetal Heart	heart
15	chr17:38066800-38076200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr17:38066800-38076600	Weak transcription	HSMMtube	muscle
17	chr17:38068200-38076200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr17:38068600-38076400	Weak transcription	A549	lung
19	chr17:38068800-38077600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr17:38070200-38077600	Weak transcription	Ovary	ovary
21	chr17:38070600-38077000	Weak transcription	Aorta	Aorta
22	chr17:38071600-38076600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr17:38071800-38077600	Weak transcription	HUVEC	blood vessel
24	chr17:38072000-38076200	Weak transcription	NHDF-Ad	bronchial
25	chr17:38072800-38076600	Strong transcription	Fetal Muscle Trunk	muscle
26	chr17:38072800-38080000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr17:38073000-38076800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr17:38073000-38078400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr17:38073000-38079600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr17:38073000-38080000	Strong transcription	Osteobl	bone
31	chr17:38073200-38079200	Strong transcription	Fetal Muscle Leg	muscle
32	chr17:38073200-38080200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr17:38073600-38076800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr17:38073800-38078800	Weak transcription	Fetal Kidney	kidney
35	chr17:38073800-38081200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr17:38074200-38077400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr17:38074200-38077600	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr17:38074200-38077600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr17:38074200-38080800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr17:38074200-38080800	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr17:38074200-38080800	Strong transcription	Fetal Brain Female	brain
42	chr17:38074200-38081000	Genic enhancers	Fetal Thymus	thymus
43	chr17:38074400-38080400	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr17:38074400-38080400	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr17:38074400-38080800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr17:38074400-38080800	Weak transcription	Small Intestine	intestine
47	chr17:38074400-38082200	Genic enhancers	Placenta	Placenta
48	chr17:38074400-38082400	Weak transcription	Hela-S3	cervix
49	chr17:38074600-38076400	Strong transcription	NH-A	brain
50	chr17:38074600-38080200	Strong transcription	Left Ventricle	heart

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