Variant report

Variant	rs12373962
Chromosome Location	chr22:30488136-30488137
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	chr22:30488055-30488387	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
HORMAD2	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs12484336	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs16987156	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16988084	0.81[AMR][1000 genomes]
rs16988135	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28428766	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28522206	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3788421	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs57462999	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61352751	0.81[AMR][1000 genomes]
rs7284538	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7285751	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7286551	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7286905	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7290085	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7292732	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73161099	0.81[AMR][1000 genomes]
rs73162731	0.81[AMR][1000 genomes]
rs73162773	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs73164739	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73883345	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8138677	0.81[AMR][1000 genomes]
rs8139217	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8140770	0.81[AMR][1000 genomes]
rs9306466	0.85[AMR][1000 genomes]
rs9608822	0.81[AMR][1000 genomes]
rs9608823	0.81[AMR][1000 genomes]
rs9608836	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9608843	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608845	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608847	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9614097	0.81[AMR][1000 genomes]
rs9614105	0.81[AMR][1000 genomes]
rs9614108	0.81[AMR][1000 genomes]
rs9614110	0.86[AMR][1000 genomes]
rs9614111	0.86[AMR][1000 genomes]
rs9614122	0.82[ASN][1000 genomes]
rs9614124	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9614127	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9614128	0.84[AMR][1000 genomes]
rs9614129	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9614131	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9614132	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9614143	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9614144	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9614145	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9614152	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9614153	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9614155	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs9680595	0.85[AMR][1000 genomes]
rs9680809	0.85[AMR][1000 genomes]
rs9983	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs12373962	MTMR3	Cis_1M	lymphoblastoid	RTeQTL
rs12373962	MTMR3	cis	Nerve Tibial	GTEx
rs12373962	MTMR3	cis	Adipose Subcutaneous	GTEx
rs12373962	MTMR3	cis	Artery Tibial	GTEx
rs12373962	MTMR3	cis	Thyroid	GTEx
rs12373962	MTMR3	cis	lung	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30483800-30493000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr22:30486600-30488400	Weak transcription	Dnd41	blood
3	chr22:30488000-30488600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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