Variant report

Variant	rs3907022
Chromosome Location	chr17:38134889-38134890
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38083515..38085044-chr17:38134757..38136907,2	K562	blood:
2	chr17:38132843..38134558-chr17:38134586..38136777,2	K562	blood:
3	chr17:37822499..37825157-chr17:38134564..38136982,2	K562	blood:
4	chr17:38125232..38127336-chr17:38133095..38135671,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172057	Chromatin interaction
ENSG00000264968	Chromatin interaction
ENSG00000141744	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs3826331	0.81[ASN][1000 genomes]
rs3859191	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3859192	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3859193	0.80[AFR][1000 genomes]
rs4065876	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4239225	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4795412	0.81[ASN][1000 genomes]
rs56030650	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56326707	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57968500	0.81[ASN][1000 genomes]
rs60134943	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60137005	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7021	0.81[ASN][1000 genomes]
rs8081692	0.81[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
rs3907022	GSDMA	cis	lung	GTEx
rs3907022	GSDMA	cis	Nerve Tibial	GTEx
rs3907022	GSDMA	cis	Adipose Subcutaneous	GTEx
rs3907022	GSDMA	cis	Esophagus Muscularis	GTEx
rs3907022	MED24	cis	Artery Tibial	GTEx
rs3907022	GSDMA	cis	Artery Tibial	GTEx
rs3907022	GSDMA	cis	Thyroid	GTEx
rs3907022	MED24	cis	Nerve Tibial	GTEx
rs3907022	GSDMA	cis	Artery Aorta	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38130400-38135200	Weak transcription	Osteobl	bone
2	chr17:38130400-38135400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr17:38130400-38135400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr17:38130600-38135200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr17:38130600-38135200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr17:38131200-38135400	Weak transcription	Primary B cells from cord blood	blood
7	chr17:38131400-38135600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr17:38132000-38135800	Weak transcription	Fetal Kidney	kidney
9	chr17:38132600-38136000	Weak transcription	Pancreas	Pancrea
10	chr17:38133000-38136200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr17:38133600-38135600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr17:38134400-38135400	Enhancers	NHEK	skin
13	chr17:38134600-38135600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr17:38134600-38135600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr17:38134600-38135600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr17:38134600-38135800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr17:38134600-38135800	Enhancers	HMEC	breast
18	chr17:38134800-38135400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr17:38134800-38136200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr17:38134800-38136200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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