Variant report

Variant	rs72832962
Chromosome Location	chr17:38096501-38096502
allele	A/C/G
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	EBF1	chr17:38096327-38096710	GM12878	blood:	n/a	n/a
2	TEAD4	chr17:38095764-38096670	K562	blood:	n/a	n/a
3	BACH1	chr17:38096345-38096532	K562	blood:	n/a	n/a
4	STAT5A	chr17:38095907-38096670	GM12878	blood:	n/a	chr17:38096249-38096261 chr17:38096142-38096151 chr17:38096141-38096150
5	FOSL2	chr17:38096137-38096768	SK-N-SH	brain:	n/a	chr17:38096452-38096460 chr17:38096167-38096176
6	BHLHE40	chr17:38096347-38096698	GM12878	blood:	n/a	n/a
7	CEBPB	chr17:38095754-38096784	GM12878	blood:	n/a	n/a
8	MAX	chr17:38096360-38096668	GM12878	blood:	n/a	n/a
9	MAX	chr17:38096218-38096826	SK-N-SH	brain:	n/a	n/a
10	TBP	chr17:38096353-38096628	GM12878	blood:	n/a	n/a
11	MTA3	chr17:38095999-38096791	GM12878	blood:	n/a	n/a
12	TCF12	chr17:38095714-38096879	SK-N-SH	brain:	n/a	n/a
13	EP300	chr17:38095956-38096620	GM12878	blood:	n/a	n/a
14	RCOR1	chr17:38095815-38096661	K562	blood:	n/a	n/a
15	EP300	chr17:38096333-38096649	GM12878	blood:	n/a	n/a
16	POLR2A	chr17:38095909-38096661	SK-N-SH	brain:	n/a	n/a
17	BHLHE40	chr17:38095877-38096517	K562	blood:	n/a	chr17:38096318-38096334
18	JUN	chr17:38095536-38096713	K562	blood:	n/a	chr17:38096452-38096460 chr17:38096167-38096176
19	SMC3	chr17:38096394-38096613	GM12878	blood:	n/a	n/a
20	MAX	chr17:38096350-38096713	K562	blood:	n/a	n/a
21	PBX3	chr17:38096170-38096759	SK-N-SH	brain:	n/a	n/a
22	TBL1XR1	chr17:38096390-38096527	K562	blood:	n/a	n/a
23	RUNX3	chr17:38095767-38096877	GM12878	blood:	n/a	n/a
24	GATA3	chr17:38095887-38096813	SK-N-SH	brain:	n/a	chr17:38096166-38096176
25	ATF1	chr17:38096329-38096618	K562	blood:	n/a	n/a
26	TAL1	chr17:38096077-38096525	K562	blood:	n/a	chr17:38096490-38096505 chr17:38096490-38096505 chr17:38096491-38096502 chr17:38096490-38096505 chr17:38096493-38096504
27	MAX	chr17:38096270-38096710	SK-N-SH	brain:	n/a	n/a
28	WRNIP1	chr17:38096254-38096630	GM12878	blood:	n/a	n/a
29	CUX1	chr17:38096420-38096620	GM12878	blood:	n/a	n/a
30	FOS	chr17:38096340-38096515	MCF10A-Er-Src	breast:	n/a	chr17:38096452-38096460
31	MAX	chr17:38096414-38096599	K562	blood:	n/a	n/a
32	IKZF1	chr17:38095856-38096572	GM12878	blood:	n/a	n/a
33	RAD21	chr17:38095804-38096606	IMR90	lung:	n/a	n/a
34	TCF12	chr17:38096306-38096635	GM12878	blood:	n/a	n/a
35	MYC	chr17:38096346-38096549	K562	blood:	n/a	n/a
36	IRF4	chr17:38096232-38096625	GM12878	blood:	n/a	n/a
37	RELA	chr17:38095859-38096661	GM12891	blood:	n/a	n/a
38	MAZ	chr17:38096468-38096619	GM12878	blood:	n/a	n/a
39	STAT5A	chr17:38096211-38096655	GM12878	blood:	n/a	chr17:38096249-38096261
40	CTCF	chr17:38096400-38096550	GM12875	blood:	n/a	n/a
41	BATF	chr17:38096310-38096627	GM12878	blood:	n/a	n/a
42	GATA3	chr17:38096217-38096646	T-47D	breast:	n/a	n/a
43	CUX1	chr17:38096353-38096578	K562	blood:	n/a	n/a
44	RUNX3	chr17:38095856-38096716	GM12878	blood:	n/a	n/a
45	PBX3	chr17:38095881-38096747	SK-N-SH	brain:	n/a	n/a
46	JUND	chr17:38095923-38096652	K562	blood:	n/a	chr17:38096452-38096460 chr17:38096167-38096176
47	ATF2	chr17:38095786-38096714	GM12878	blood:	n/a	n/a
48	GATA3	chr17:38095737-38096845	SK-N-SH	brain:	n/a	chr17:38096166-38096176
49	SP1	chr17:38096238-38096651	GM12878	blood:	n/a	n/a
50	SIN3AK20	chr17:38095872-38096646	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:38094255..38096841-chr17:38137196..38138815,2	MCF-7	breast:
2	chr17:38082705..38085668-chr17:38094969..38098446,5	K562	blood:
3	chr17:38083081..38090987-chr17:38092901..38098446,8	K562	blood:

Variant related genes	Relation type
LRRC3C	TF binding region
ENSG00000264968	Chromatin interaction
ENSG00000172057	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	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832958	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832961	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832964	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832965	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832966	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832971	0.96[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	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832989	0.88[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	0.80[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
rs72832962	GSDMA	cis	Whole Blood	GTEx

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38091600-38097800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:38093800-38097000	Enhancers	GM12878-XiMat	blood
3	chr17:38094400-38097400	Enhancers	Fetal Thymus	thymus
4	chr17:38094800-38096600	Enhancers	HepG2	liver
5	chr17:38094800-38100200	Weak transcription	Right Ventricle	heart
6	chr17:38095400-38096600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr17:38095400-38096600	Enhancers	Primary B cells from peripheral blood	blood
8	chr17:38095400-38096600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr17:38095400-38096600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr17:38095400-38096600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr17:38095400-38096600	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr17:38095400-38096600	Enhancers	A549	lung
13	chr17:38095400-38096800	Enhancers	Fetal Kidney	kidney
14	chr17:38095400-38096800	Enhancers	Fetal Muscle Leg	muscle
15	chr17:38095400-38096800	Enhancers	Fetal Stomach	stomach
16	chr17:38095600-38096600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr17:38095600-38096600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr17:38095600-38096600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr17:38095600-38096600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr17:38095600-38096600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr17:38095600-38096600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr17:38095600-38096600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr17:38095600-38096600	Enhancers	Fetal Lung	lung
24	chr17:38095600-38096600	Enhancers	Rectal Smooth Muscle	rectum
25	chr17:38095600-38096600	Enhancers	K562	blood
26	chr17:38095600-38096800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr17:38095600-38097000	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr17:38095800-38096600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr17:38095800-38096600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr17:38095800-38096600	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr17:38095800-38096800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr17:38095800-38097000	Enhancers	Thymus	Thymus
33	chr17:38096000-38096600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr17:38096000-38096600	Enhancers	Adipose Nuclei	Adipose
35	chr17:38096000-38096600	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr17:38096000-38096600	Flanking Active TSS	NH-A	brain
37	chr17:38096000-38096800	Enhancers	Primary T cells fromperipheralblood	blood
38	chr17:38096000-38097000	Enhancers	Fetal Muscle Trunk	muscle
39	chr17:38096000-38104800	Weak transcription	Stomach Mucosa	stomach
40	chr17:38096200-38096800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr17:38096400-38096600	Flanking Active TSS	HSMMtube	muscle
42	chr17:38096400-38096800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr17:38096400-38096800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr17:38096400-38096800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr17:38096400-38096800	Enhancers	NHDF-Ad	bronchial
46	chr17:38096400-38096800	Enhancers	Osteobl	bone
47	chr17:38096400-38100000	Weak transcription	Primary B cells from cord blood	blood
48	chr17:38096400-38100200	Weak transcription	Left Ventricle	heart
49	chr17:38096400-38108400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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