Variant report

Variant	rs8078692
Chromosome Location	chr17:38215117-38215118
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:38215109-38215159	SAEC	small airway:	n/a
2	chr17:38215109-38215159	BE2_C	brain:	n/a
3	chr17:38215109-38215159	GM06990	blood:	n/a
4	chr17:38215109-38215159	HPAEpiC	pulmonary alveolar:	n/a
5	chr17:38215109-38215159	PrEC	prostate:	n/a
6	chr17:38215109-38215159	GM12892	blood:	n/a
7	chr17:38215109-38215159	A549	lung:	n/a
8	chr17:38215109-38215159	AG09309	skin:	n/a
9	chr17:38215109-38215159	RPTEC	kidney:	n/a
10	chr17:38215109-38215159	ECC-1	luminal epithelium:	n/a
11	chr17:38215109-38215159	PFSK-1	brain:	n/a
12	chr17:38215109-38215159	HRPEpiC	eye:	n/a
13	chr17:38215109-38215159	MCF-7	breast:	n/a
14	chr17:38215109-38215159	AoSMC	blood vessel:	n/a
15	chr17:38215109-38215159	ovcar-3	ovarian:	n/a
16	chr17:38215109-38215159	BJ	skin:	n/a
17	chr17:38215109-38215159	H1-hESC	embryonic stem cell:	embryo
18	chr17:38215109-38215159	HNPCEpiC	eye:	n/a
19	chr17:38215109-38215159	NHBE	bronchial:	n/a
20	chr17:38215109-38215159	NH-A	brain:	n/a
21	chr17:38215109-38215159	HRE	kidney:	n/a
22	chr17:38215109-38215159	HMEC	breast:	n/a
23	chr17:38215109-38215159	HepG2	liver:	n/a
24	chr17:38215109-38215159	Hela-S3	cervix:	n/a
25	chr17:38215109-38215159	PANC-1	pancreas:	n/a
26	chr17:38215109-38215159	AG09319	gingival:	n/a
27	chr17:38215109-38215159	AG04449	skin:	fetal
28	chr17:38215109-38215159	HEEpiC	esophagus:	n/a
29	chr17:38215109-38215159	K562	blood:	n/a
30	chr17:38215109-38215159	NT2-D1	testis:	n/a
31	chr17:38215109-38215159	Jurkat	blood:	n/a
32	chr17:38215109-38215159	LNCaP	prostate:	n/a
33	chr17:38215109-38215159	GM19239	blood:	n/a
34	chr17:38215109-38215159	HCM	heart:	n/a
35	chr17:38215109-38215159	HRCEpiC	kidney:	n/a
36	chr17:38215109-38215159	HCPEpiC	choroid plexus:	n/a
37	chr17:38215109-38215159	HIPEpiC	eye:	n/a
38	chr17:38215109-38215159	NHDF-neo	bronchial:	n/a
39	chr17:38215109-38215159	SK-N-MC	brain:	n/a
40	chr17:38215109-38215159	Hepatocyte	liver:	n/a
41	chr17:38215109-38215159	U87	brain:	n/a
42	chr17:38215109-38215159	HL-60	blood:	n/a
43	chr17:38215109-38215159	ProgFib	skin:	n/a
44	chr17:38215109-38215159	HUVEC	blood vessel:	n/a
45	chr17:38215109-38215159	SKMC	muscle:	n/a
46	chr17:38215109-38215159	MCF10A-Er-Src	breast:	n/a
47	chr17:38215109-38215159	HCT-116	colon:	n/a
48	chr17:38215109-38215159	HCF	heart:	n/a
49	chr17:38215109-38215159	CMK	blood:	n/a
50	chr17:38215109-38215159	T-47D	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:38214747..38216418-chr17:38217920..38219694,2	MCF-7	breast:

No data

Variant related genes	Relation type
MED24	CpG island
THRA	CpG island
ENSG00000126351	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1042658	0.84[ASN][1000 genomes]
rs1045929	0.80[ASN][1000 genomes]
rs11078934	0.93[ASN][1000 genomes]
rs11871747	0.83[ASN][1000 genomes]
rs12950335	1.00[ASN][1000 genomes]
rs2227315	0.84[ASN][1000 genomes]
rs2227322	0.84[ASN][1000 genomes]
rs2227336	0.84[ASN][1000 genomes]
rs3213762	0.84[ASN][1000 genomes]
rs3884477	0.94[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3935280	0.92[ASN][1000 genomes]
rs3936197	0.96[ASN][1000 genomes]
rs4794824	0.84[ASN][1000 genomes]
rs57065891	0.84[ASN][1000 genomes]
rs59925331	0.84[ASN][1000 genomes]
rs709591	0.84[ASN][1000 genomes]
rs709592	0.84[ASN][1000 genomes]
rs7208815	0.82[ASN][1000 genomes]
rs7209755	0.84[ASN][1000 genomes]
rs7214085	0.84[ASN][1000 genomes]
rs7502514	0.92[ASN][1000 genomes]
rs7502912	0.98[ASN][1000 genomes]
rs7503555	0.93[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs8065443	0.99[ASN][1000 genomes]
rs8066846	0.94[ASN][1000 genomes]
rs868150	0.99[ASN][1000 genomes]
rs9303283	0.96[ASN][1000 genomes]
rs9303284	0.97[ASN][1000 genomes]

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs8078692	GSDMA	cis	Artery Aorta	GTEx
rs8078692	MED24	cis	Artery Tibial	GTEx
rs8078692	GSDMA	cis	lung	GTEx
rs8078692	GSDMA	cis	Adipose Subcutaneous	GTEx
rs8078692	GSDMA	cis	Artery Tibial	GTEx
rs8078692	GSDMA	cis	Nerve Tibial	GTEx

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38211000-38217400	Weak transcription	Gastric	stomach
2	chr17:38211200-38217200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:38211200-38217200	Weak transcription	Esophagus	oesophagus
4	chr17:38211200-38217200	Weak transcription	Pancreas	Pancrea
5	chr17:38211200-38217600	Weak transcription	Colonic Mucosa	Colon
6	chr17:38211200-38218600	Weak transcription	Left Ventricle	heart
7	chr17:38211200-38218600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr17:38211400-38215600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr17:38211400-38216000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr17:38211400-38216200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr17:38211400-38217400	Weak transcription	Brain Anterior Caudate	brain
12	chr17:38211400-38217600	Weak transcription	Fetal Intestine Large	intestine
13	chr17:38211400-38218000	Weak transcription	Brain Hippocampus Middle	brain
14	chr17:38211400-38218200	Weak transcription	Primary T cells from cord blood	blood
15	chr17:38211400-38218200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr17:38211400-38218200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr17:38211400-38218200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr17:38211400-38218200	Weak transcription	Hela-S3	cervix
19	chr17:38211400-38218400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr17:38211400-38218400	Weak transcription	Brain Substantia Nigra	brain
21	chr17:38211400-38218400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr17:38213000-38217200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr17:38213400-38216400	Weak transcription	Brain Germinal Matrix	brain
24	chr17:38214000-38215400	Enhancers	Fetal Muscle Leg	muscle
25	chr17:38214000-38217400	Weak transcription	Brain Angular Gyrus	brain
26	chr17:38214200-38215200	Enhancers	Liver	Liver
27	chr17:38214200-38215200	Enhancers	Right Atrium	heart
28	chr17:38214200-38215800	Enhancers	Colon Smooth Muscle	Colon
29	chr17:38214400-38215200	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr17:38214400-38215200	Enhancers	Stomach Mucosa	stomach
31	chr17:38214400-38215400	Enhancers	Duodenum Mucosa	Duodenum
32	chr17:38214400-38215400	Enhancers	Fetal Lung	lung
33	chr17:38214600-38215200	Weak transcription	NHDF-Ad	bronchial
34	chr17:38214600-38215400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr17:38214600-38217400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr17:38214600-38217400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr17:38214600-38217400	Weak transcription	Spleen	Spleen
38	chr17:38214600-38218000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr17:38214600-38218200	Weak transcription	Right Ventricle	heart
40	chr17:38214800-38215200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr17:38214800-38215200	Enhancers	Stomach Smooth Muscle	stomach
42	chr17:38214800-38215400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr17:38214800-38215800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr17:38214800-38215800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr17:38214800-38216000	Weak transcription	Fetal Brain Male	brain
46	chr17:38214800-38216200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr17:38214800-38216200	Weak transcription	Fetal Brain Female	brain
48	chr17:38214800-38216200	Bivalent Enhancer	HepG2	liver
49	chr17:38214800-38217200	Weak transcription	Fetal Thymus	thymus
50	chr17:38214800-38217400	Weak transcription	Brain Inferior Temporal Lobe	brain

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