Variant report

Variant	rs60725845
Chromosome Location	chr17:38124630-38124631
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3859193	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3894193	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4794821	0.92[EUR][1000 genomes];0.92[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:8)

SNP	Gene	Cis/trans	Tissue	Source
rs60725845	GSDMA	cis	Esophagus Muscularis	GTEx
rs60725845	GSDMA	cis	Thyroid	GTEx
rs60725845	GSDMA	cis	Nerve Tibial	GTEx
rs60725845	GSDMB	cis	Whole Blood	GTEx
rs60725845	GSDMA	cis	Adipose Subcutaneous	GTEx
rs60725845	GSDMA	cis	Artery Tibial	GTEx
rs60725845	GSDMA	cis	lung	GTEx
rs60725845	GSDMA	cis	Artery Aorta	GTEx

Chromatin state (count:17 , 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	chr17:38121800-38125400	Enhancers	Primary T cells fromperipheralblood	blood
5	chr17:38122000-38125600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr17:38122200-38130600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr17:38122200-38130600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr17:38123000-38126400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr17:38123400-38124800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr17:38123400-38125200	Enhancers	Primary B cells from cord blood	blood
11	chr17:38123600-38126200	Weak transcription	Placenta	Placenta
12	chr17:38123800-38126200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr17:38123800-38126600	Weak transcription	Spleen	Spleen
14	chr17:38124000-38127000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr17:38124000-38128000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr17:38124000-38129600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr17:38124000-38134600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links