Variant report

Variant	rs72832958
Chromosome Location	chr17:38093881-38093882
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38089487..38091759-chr17:38092539..38095742,3	K562	blood:
2	chr17:38091500..38094423-chr17:38107517..38109034,2	MCF-7	breast:
3	chr17:38081663..38087482-chr17:38088161..38094892,8	K562	blood:
4	chr17:38091454..38094190-chr17:38099108..38101238,2	K562	blood:
5	chr17:38083081..38090987-chr17:38092901..38098446,8	K562	blood:

Variant related genes	Relation type
ENSG00000172057	Chromatin interaction
ENSG00000264968	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs36006659	1.00[ASN][1000 genomes]
rs60701125	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7222093	1.00[ASN][1000 genomes]
rs7225565	1.00[ASN][1000 genomes]
rs72832957	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832961	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832962	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832964	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832965	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832966	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832971	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832987	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832988	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832989	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832991	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72834789	1.00[ASN][1000 genomes]
rs8065244	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9913535	1.00[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72832958	GSDMA	cis	Whole Blood	GTEx

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38085000-38095800	Weak transcription	Primary T cells from cord blood	blood
2	chr17:38085400-38095800	Weak transcription	Brain Substantia Nigra	brain
3	chr17:38085400-38096000	Weak transcription	Pancreas	Pancrea
4	chr17:38085600-38094400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr17:38085600-38095600	Weak transcription	Fetal Intestine Small	intestine
6	chr17:38085800-38096000	Weak transcription	Brain Hippocampus Middle	brain
7	chr17:38086000-38095600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr17:38086200-38095600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr17:38086400-38095600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr17:38086800-38095200	Weak transcription	NHLF	lung
11	chr17:38090400-38096000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr17:38090600-38094400	Weak transcription	Fetal Thymus	thymus
13	chr17:38090800-38095400	Weak transcription	A549	lung
14	chr17:38090800-38095600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:38091600-38097800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr17:38091800-38094400	Weak transcription	Right Ventricle	heart
17	chr17:38092400-38094400	Weak transcription	NHDF-Ad	bronchial
18	chr17:38092400-38095600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr17:38092600-38095200	Weak transcription	NH-A	brain
20	chr17:38092600-38095400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr17:38092600-38095400	Weak transcription	HSMMtube	muscle
22	chr17:38092600-38095600	Weak transcription	Left Ventricle	heart
23	chr17:38092600-38095600	Weak transcription	Stomach Mucosa	stomach
24	chr17:38092600-38096000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr17:38092800-38095000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr17:38092800-38095200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr17:38092800-38095400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr17:38092800-38095400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr17:38092800-38095400	Weak transcription	HSMM	muscle
30	chr17:38092800-38095400	Weak transcription	Osteobl	bone
31	chr17:38093600-38094400	Enhancers	HepG2	liver
32	chr17:38093800-38094000	Enhancers	K562	blood
33	chr17:38093800-38094200	Enhancers	Fetal Kidney	kidney
34	chr17:38093800-38095000	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr17:38093800-38095400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr17:38093800-38095600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr17:38093800-38096400	Enhancers	Primary B cells from cord blood	blood
38	chr17:38093800-38097000	Enhancers	GM12878-XiMat	blood

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