Variant report

Variant	rs7207600
Chromosome Location	chr17:38091660-38091661
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38090703..38093615-chr17:38109038..38110854,2	K562	blood:
2	chr17:38090309..38092943-chr17:38096852..38100190,3	MCF-7	breast:
3	chr17:38091500..38094423-chr17:38107517..38109034,2	MCF-7	breast:
4	chr17:38089487..38091759-chr17:38092539..38095742,3	K562	blood:
5	chr17:38081663..38087482-chr17:38088161..38094892,8	K562	blood:
6	chr17:38091454..38094190-chr17:38099108..38101238,2	K562	blood:

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

Extended variants
information (count: 45 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1007654	1.00[CEU][hapmap];0.83[CHB][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1007655	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11869855	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1563103	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17609240	0.94[CEU][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2001476	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2313640	1.00[CEU][hapmap];0.87[CHB][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28618095	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3848395	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3893044	0.94[YRI][hapmap]
rs3902024	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3931960	0.85[ASN][1000 genomes]
rs4065985	0.95[YRI][hapmap]
rs4134501	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4458030	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55860944	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56301252	0.87[AMR][1000 genomes]
rs56396280	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60667221	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62068174	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62068175	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62068176	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62068177	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62068178	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62068179	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62068180	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62068181	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62068182	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62068183	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62068184	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6503527	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7209742	0.81[CHB][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7218321	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7218742	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7219080	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7223318	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8065126	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8068522	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8071050	0.87[ASN][1000 genomes]
rs8076474	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8081437	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9889711	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9889716	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9895948	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[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:9)

SNP	Gene	Cis/trans	Tissue	Source
rs7207600	GSDMA	cis	Esophagus Muscularis	GTEx
rs7207600	GSDMA	cis	Thyroid	GTEx
rs7207600	GSDMA	cis	lung	GTEx
rs7207600	GSDMA	cis	Nerve Tibial	GTEx
rs7207600	GSDMA	cis	Artery Tibial	GTEx
rs7207600	ORMDL3	Cis_1M	lymphoblastoid	RTeQTL
rs7207600	GSDMA	cis	Artery Aorta	GTEx
rs7207600	GSDML	Cis_1M	lymphoblastoid	RTeQTL
rs7207600	GSDMA	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:32 , 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	chr17:38085200-38092200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr17:38085400-38095800	Weak transcription	Brain Substantia Nigra	brain
4	chr17:38085400-38096000	Weak transcription	Pancreas	Pancrea
5	chr17:38085600-38094400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr17:38085600-38095600	Weak transcription	Fetal Intestine Small	intestine
7	chr17:38085800-38096000	Weak transcription	Brain Hippocampus Middle	brain
8	chr17:38086000-38095600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr17:38086200-38095600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr17:38086400-38092000	Weak transcription	K562	blood
11	chr17:38086400-38095600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr17:38086600-38092000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr17:38086600-38092000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr17:38086800-38095200	Weak transcription	NHLF	lung
15	chr17:38089400-38092000	Enhancers	Left Ventricle	heart
16	chr17:38090000-38092600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr17:38090200-38091800	Enhancers	Gastric	stomach
18	chr17:38090400-38091800	Enhancers	Right Ventricle	heart
19	chr17:38090400-38093800	Weak transcription	GM12878-XiMat	blood
20	chr17:38090400-38096000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr17:38090600-38094400	Weak transcription	Fetal Thymus	thymus
22	chr17:38090800-38092000	Weak transcription	HSMMtube	muscle
23	chr17:38090800-38092200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr17:38090800-38092800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr17:38090800-38093800	Weak transcription	Fetal Kidney	kidney
26	chr17:38090800-38095400	Weak transcription	A549	lung
27	chr17:38090800-38095600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr17:38091000-38092200	Weak transcription	Stomach Mucosa	stomach
29	chr17:38091000-38092200	Weak transcription	NH-A	brain
30	chr17:38091000-38092400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr17:38091000-38093200	Enhancers	HepG2	liver
32	chr17:38091600-38097800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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