Variant report

Variant	rs6503533
Chromosome Location	chr17:38184580-38184581
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38178740..38181888-chr17:38181920..38184770,3	K562	blood:
2	chr17:38177803..38180808-chr17:38181920..38184987,3	K562	blood:
3	chr17:38181641..38185122-chr17:38333882..38336606,4	MCF-7	breast:
4	chr17:38175295..38180645-chr17:38181007..38185256,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000008838	Chromatin interaction
ENSG00000108352	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1042658	0.83[ASN][1000 genomes]
rs11078934	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11871747	0.82[ASN][1000 genomes]
rs2227315	0.83[ASN][1000 genomes]
rs2227322	0.83[ASN][1000 genomes]
rs2227336	0.83[ASN][1000 genomes]
rs3213762	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3935280	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4794824	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57065891	0.83[ASN][1000 genomes]
rs59925331	0.83[ASN][1000 genomes]
rs709591	0.83[ASN][1000 genomes]
rs709592	0.83[ASN][1000 genomes]
rs7208815	0.81[ASN][1000 genomes]
rs7209755	0.83[ASN][1000 genomes]
rs7214085	0.83[ASN][1000 genomes]
rs7502514	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9303283	0.81[ASN][1000 genomes]
rs9303284	0.80[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:11)

SNP	Gene	Cis/trans	Tissue	Source
rs6503533	GSDMA	cis	Artery Tibial	GTEx
rs6503533	GSDMA	cis	Nerve Tibial	GTEx
rs6503533	GSDMA	cis	Adipose Subcutaneous	GTEx
rs6503533	GSDMA	cis	Artery Aorta	GTEx
rs6503533	MED24	cis	Artery Tibial	GTEx
rs6503533	MED24	cis	Whole Blood	GTEx
rs6503533	MED24	cis	Skin Sun Exposed Lower leg	GTEx
rs6503533	GSDMA	cis	Esophagus Muscularis	GTEx
rs6503533	MED24	cis	lung	GTEx
rs6503533	MED24	cis	Nerve Tibial	GTEx
rs6503533	GSDMA	cis	lung	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38171400-38186000	Weak transcription	Small Intestine	intestine
2	chr17:38173400-38192800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr17:38174000-38192600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr17:38174000-38193800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr17:38174200-38187400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr17:38174400-38193200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr17:38174800-38192600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr17:38175000-38193800	Strong transcription	HepG2	liver
9	chr17:38175200-38192600	Strong transcription	Fetal Brain Female	brain
10	chr17:38175200-38193200	Strong transcription	Dnd41	blood
11	chr17:38175400-38188200	Weak transcription	Fetal Heart	heart
12	chr17:38175600-38191400	Strong transcription	Brain Hippocampus Middle	brain
13	chr17:38175600-38193200	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr17:38175600-38193200	Strong transcription	Brain Cingulate Gyrus	brain
15	chr17:38175600-38193800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr17:38175800-38192600	Strong transcription	Brain Germinal Matrix	brain
17	chr17:38176000-38189800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr17:38176000-38192600	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr17:38176000-38195400	Weak transcription	Right Atrium	heart
20	chr17:38176200-38193800	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr17:38176400-38192400	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr17:38177800-38185400	Strong transcription	GM12878-XiMat	blood
23	chr17:38177800-38191000	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr17:38178000-38187800	Strong transcription	Right Ventricle	heart
25	chr17:38178200-38192600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr17:38178600-38191200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr17:38178800-38184600	Weak transcription	HSMMtube	muscle
28	chr17:38179000-38192600	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr17:38180400-38191200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr17:38180400-38192600	Strong transcription	Fetal Intestine Large	intestine
31	chr17:38180400-38193800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr17:38181000-38192600	Strong transcription	Primary hematopoietic stem cells	blood
33	chr17:38181400-38192600	Strong transcription	Fetal Lung	lung
34	chr17:38181400-38193200	Strong transcription	Brain Substantia Nigra	brain
35	chr17:38181400-38193400	Strong transcription	Brain Anterior Caudate	brain
36	chr17:38181800-38192600	Strong transcription	Osteobl	bone
37	chr17:38182400-38187800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr17:38182600-38184600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr17:38182600-38184600	Weak transcription	Primary B cells from cord blood	blood
40	chr17:38182600-38187200	Weak transcription	NHDF-Ad	bronchial
41	chr17:38182800-38184600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr17:38182800-38184800	Weak transcription	Brain Angular Gyrus	brain
43	chr17:38182800-38193800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr17:38183000-38184800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr17:38183000-38184800	Weak transcription	Fetal Kidney	kidney
46	chr17:38183000-38184800	Weak transcription	Ovary	ovary
47	chr17:38183000-38185200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr17:38183000-38188800	Weak transcription	Fetal Brain Male	brain
49	chr17:38183000-38195600	Strong transcription	Primary T cells from cord blood	blood
50	chr17:38183200-38185200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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