Variant report

Variant	rs4795409
Chromosome Location	chr17:38120736-38120737
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	chr17:38115298..38120283-chr17:38120619..38125449,6	K562	blood:

Variant related genes	Relation type
ENSG00000167914	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs12451084	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12451100	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35123741	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3893044	0.82[ASN][1000 genomes]
rs3894194	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3902025	0.86[ASN][1000 genomes]
rs4065986	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4795406	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4795408	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55739615	0.86[ASN][1000 genomes]
rs62068170	0.81[ASN][1000 genomes]
rs62068171	0.82[ASN][1000 genomes]
rs6503525	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6503526	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7216564	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8069202	0.81[EUR][1000 genomes]
rs8079416	0.81[AMR][1000 genomes]
rs8080734	0.82[ASN][1000 genomes]
rs8081462	0.88[AMR][1000 genomes];0.87[EUR][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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4795409	GSDMA	cis	Adipose Subcutaneous	GTEx
rs4795409	ORMDL3	Cis_1M	lymphoblastoid	RTeQTL
rs4795409	GSDMA	cis	Thyroid	GTEx
rs4795409	GSDMA	cis	lung	GTEx
rs4795409	GSDMA	cis	Artery Tibial	GTEx
rs4795409	GSDMA	cis	Nerve Tibial	GTEx

Chromatin state (count:20 , 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	chr17:38116200-38123400	Weak transcription	Primary B cells from cord blood	blood
7	chr17:38118200-38121200	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr17:38118400-38121000	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr17:38118400-38121000	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr17:38118800-38121000	Enhancers	NHEK	skin
11	chr17:38119000-38121000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr17:38119000-38122400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr17:38119200-38121000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr17:38120200-38121000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr17:38120400-38121600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr17:38120600-38121800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr17:38120600-38121800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr17:38120600-38122000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr17:38120600-38123200	Weak transcription	HMEC	breast
20	chr17:38120600-38123400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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