Variant report

Variant	rs72832971
Chromosome Location	chr17:38108619-38108620
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:37978424..37980112-chr17:38107868..38109558,2	K562	blood:
2	chr17:38107709..38109342-chr17:38252827..38255550,2	K562	blood:
3	chr17:38101089..38105078-chr17:38105781..38110100,7	K562	blood:
4	chr17:38102879..38104734-chr17:38106799..38109127,2	MCF-7	breast:
5	chr17:38107864..38109571-chr17:38137036..38138618,2	MCF-7	breast:
6	chr17:38091500..38094423-chr17:38107517..38109034,2	MCF-7	breast:
7	chr17:38079284..38081708-chr17:38107683..38109275,2	MCF-7	breast:
8	chr17:38082186..38086567-chr17:38107763..38110832,6	K562	blood:
9	chr17:38108082..38110998-chr17:38277597..38279860,2	K562	blood:
10	chr17:38107392..38113362-chr17:38135377..38138663,7	K562	blood:
11	chr17:38097357..38100615-chr17:38107229..38110087,5	K562	blood:
12	chr17:38107835..38110807-chr17:38134929..38137852,3	K562	blood:
13	chr17:38082601..38085339-chr17:38107879..38109914,2	MCF-7	breast:
14	chr17:38082186..38083715-chr17:38108086..38110832,2	K562	blood:
15	chr17:38107027..38109287-chr17:38138129..38139921,2	K562	blood:
16	chr17:38108595..38111573-chr17:38115257..38117518,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000264968	Chromatin interaction
ENSG00000188895	Chromatin interaction
ENSG00000108344	Chromatin interaction
ENSG00000172057	Chromatin interaction
ENSG00000204913	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs36006659	1.00[ASN][1000 genomes]
rs60701125	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7222093	1.00[ASN][1000 genomes]
rs7225565	1.00[ASN][1000 genomes]
rs72832957	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832958	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832961	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832962	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832964	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832965	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832966	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832987	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832988	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832989	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832991	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72834789	1.00[ASN][1000 genomes]
rs8065244	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9913535	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	esv3442992	chr17:38107951-38110799	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv3410693	chr17:38108326-38110574	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72832971	GSDMA	cis	Whole Blood	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38108200-38108800	Enhancers	Pancreas	Pancrea
2	chr17:38108200-38109000	Flanking Bivalent TSS/Enh	HepG2	liver
3	chr17:38108400-38108800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr17:38108400-38108800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr17:38108400-38108800	Enhancers	Right Atrium	heart
6	chr17:38108400-38108800	Enhancers	GM12878-XiMat	blood
7	chr17:38108400-38109000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
8	chr17:38108400-38109000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr17:38108400-38109000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr17:38108400-38109000	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr17:38108400-38109000	Flanking Active TSS	Colonic Mucosa	Colon
12	chr17:38108400-38109000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr17:38108400-38109000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr17:38108400-38109000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr17:38108400-38109000	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr17:38108400-38109000	Flanking Active TSS	Spleen	Spleen
17	chr17:38108400-38109200	Flanking Active TSS	Primary B cells from peripheral blood	blood
18	chr17:38108400-38109600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr17:38108400-38109600	Enhancers	Esophagus	oesophagus
20	chr17:38108400-38109800	Active TSS	Brain Cingulate Gyrus	brain
21	chr17:38108400-38109800	Active TSS	Brain Substantia Nigra	brain
22	chr17:38108400-38110800	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr17:38108600-38108800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
24	chr17:38108600-38108800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
25	chr17:38108600-38108800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr17:38108600-38108800	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr17:38108600-38108800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
28	chr17:38108600-38108800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr17:38108600-38108800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr17:38108600-38108800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
31	chr17:38108600-38108800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
32	chr17:38108600-38108800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
33	chr17:38108600-38108800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr17:38108600-38108800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr17:38108600-38108800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr17:38108600-38108800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr17:38108600-38108800	Flanking Active TSS	Brain Angular Gyrus	brain
38	chr17:38108600-38108800	Enhancers	Fetal Brain Male	brain
39	chr17:38108600-38108800	Flanking Active TSS	Gastric	stomach
40	chr17:38108600-38108800	Flanking Active TSS	Lung	lung
41	chr17:38108600-38108800	Enhancers	Ovary	ovary
42	chr17:38108600-38108800	Active TSS	Rectal Smooth Muscle	rectum
43	chr17:38108600-38108800	Flanking Active TSS	Right Ventricle	heart
44	chr17:38108600-38108800	Flanking Active TSS	A549	lung
45	chr17:38108600-38108800	Flanking Bivalent TSS/Enh	Osteobl	bone
46	chr17:38108600-38109000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
47	chr17:38108600-38109000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr17:38108600-38109000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr17:38108600-38109000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr17:38108600-38109000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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