Variant report

Variant	rs72832991
Chromosome Location	chr17:38119448-38119449
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:38117802..38119525-chr17:38136512..38138841,3	K562	blood:
2	chr17:38115298..38120283-chr17:38120619..38125449,6	K562	blood:

Variant related genes	Relation type
ENSG00000167914	Chromatin interaction
ENSG00000108344	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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7222093	1.00[ASN][1000 genomes]
rs7225565	1.00[ASN][1000 genomes]
rs72832957	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832958	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832961	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832962	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832964	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832965	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832966	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832971	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832988	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832989	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72834789	1.00[ASN][1000 genomes]
rs8065244	0.85[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
rs72832991	GSDMA	cis	Whole Blood	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38110800-38128800	Weak transcription	Gastric	stomach
2	chr17:38111600-38126800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr17:38115600-38125000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr17:38115800-38121000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr17:38115800-38123000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr17:38116200-38120200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr17:38116200-38123400	Weak transcription	Primary B cells from cord blood	blood
8	chr17:38118200-38120600	Enhancers	Fetal Thymus	thymus
9	chr17:38118200-38121200	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr17:38118400-38120600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr17:38118400-38120600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr17:38118400-38120600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr17:38118400-38120600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr17:38118400-38121000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr17:38118400-38121000	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr17:38118600-38120400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr17:38118600-38120400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr17:38118600-38120600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr17:38118800-38120600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr17:38118800-38120600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr17:38118800-38120600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr17:38118800-38120600	Enhancers	HMEC	breast
23	chr17:38118800-38121000	Enhancers	NHEK	skin
24	chr17:38119000-38119600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr17:38119000-38120400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr17:38119000-38120600	Enhancers	Thymus	Thymus
27	chr17:38119000-38121000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr17:38119000-38122400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr17:38119200-38121000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr17:38119400-38120400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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