Variant report

Variant	rs66791174
Chromosome Location	chr3:100235893-100235894
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr3:100235633-100236068	SK-N-SH	brain:	n/a	n/a
2	MAX	chr3:100235743-100236033	SK-N-SH	brain:	n/a	n/a
3	NFIC	chr3:100235641-100236026	SK-N-SH	brain:	n/a	n/a
4	REST	chr3:100235777-100236018	SK-N-SH	brain:	n/a	n/a
5	PBX3	chr3:100235610-100236118	SK-N-SH	brain:	n/a	n/a
6	TCF12	chr3:100235524-100236077	SK-N-SH	brain:	n/a	n/a
7	GATA3	chr3:100235624-100236132	SK-N-SH	brain:	n/a	n/a
8	NFIC	chr3:100235610-100236208	SK-N-SH	brain:	n/a	n/a
9	TCF12	chr3:100235522-100236236	SK-N-SH	brain:	n/a	n/a
10	FOSL2	chr3:100235652-100236003	SK-N-SH	brain:	n/a	n/a
11	EP300	chr3:100235638-100236209	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:100234281..100237068-chr3:100240897..100243194,2	MCF-7	breast:

Variant related genes	Relation type
TMEM45A	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11923942	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11927516	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12631075	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12634371	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12636452	0.87[AMR][1000 genomes]
rs12636805	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12639465	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4928097	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4928111	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs56402168	0.90[ASN][1000 genomes]
rs56779007	0.97[ASN][1000 genomes]
rs57018910	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58689996	0.86[AMR][1000 genomes]
rs58789183	0.87[AMR][1000 genomes]
rs59299896	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60071944	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60272820	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60511852	0.86[AMR][1000 genomes]
rs61636409	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62276517	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62276520	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62276521	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62276522	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62276523	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62276526	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62276556	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62276559	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6441300	0.97[ASN][1000 genomes]
rs67600559	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6763079	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6763178	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67774605	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6798264	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73152126	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7429072	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7429277	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7429392	0.80[ASN][1000 genomes]
rs7429604	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7430698	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7430715	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7431846	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7650523	0.97[ASN][1000 genomes]
rs7653196	0.97[ASN][1000 genomes]
rs9810780	0.85[ASN][1000 genomes]
rs9851429	0.85[AMR][1000 genomes];0.90[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	nsv877218	chr3:100176360-100267619	Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs66791174	TMEM45A	cis	Whole Blood	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100225400-100236800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:100227200-100239400	Weak transcription	Ovary	ovary
3	chr3:100227400-100239400	Weak transcription	Aorta	Aorta
4	chr3:100227400-100239400	Weak transcription	Fetal Stomach	stomach
5	chr3:100227600-100236200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:100235000-100237400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:100235000-100238000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:100235200-100236000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:100235200-100238400	Enhancers	NHDF-Ad	bronchial
10	chr3:100235200-100242000	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr3:100235400-100237800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:100235600-100236600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr3:100235600-100237400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:100235600-100237800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:100235800-100237600	Weak transcription	Osteobl	bone
16	chr3:100235800-100244800	Weak transcription	Muscle Satellite Cultured Cells	--

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