Variant report

Variant	rs57653653
Chromosome Location	chr22:30251472-30251473
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs12484336	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12485243	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16987156	0.94[AMR][1000 genomes]
rs16988084	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16988135	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2097351	0.91[ASN][1000 genomes]
rs2097352	0.95[ASN][1000 genomes]
rs28428766	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28522206	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28595572	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3788421	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57462999	0.92[AMR][1000 genomes]
rs60665668	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61352751	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7284538	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7285751	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7285885	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7290085	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7292732	0.90[AMR][1000 genomes]
rs73161050	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73161074	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73161099	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73162731	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73162773	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73883345	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8138677	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8139217	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8140366	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8140770	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9306466	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9608822	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9608823	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9608836	0.92[AMR][1000 genomes]
rs9608843	0.85[AMR][1000 genomes]
rs9614063	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9614071	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9614075	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9614081	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9614083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9614087	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9614089	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9614097	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9614101	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9614105	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9614108	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9614109	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9614110	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9614111	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9614122	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9614124	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9614127	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9614128	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9614129	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9614131	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9614132	0.92[AMR][1000 genomes]
rs9680595	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9680809	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9983	0.92[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs57653653	MTMR3	cis	lung	GTEx
rs57653653	MTMR3	cis	Nerve Tibial	GTEx
rs57653653	MTMR3	Cis_1M	lymphoblastoid	RTeQTL
rs57653653	MTMR3	cis	Thyroid	GTEx
rs57653653	MTMR3	cis	Artery Tibial	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30248400-30254600	Weak transcription	HSMMtube	muscle
2	chr22:30250200-30253200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr22:30250200-30253200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr22:30250600-30251600	Weak transcription	Left Ventricle	heart
5	chr22:30250800-30251600	Weak transcription	Adipose Nuclei	Adipose
6	chr22:30251400-30251600	Flanking Active TSS	Fetal Heart	heart
7	chr22:30251400-30251800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr22:30251400-30251800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr22:30251400-30252200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr22:30251400-30252400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr22:30251400-30252800	Enhancers	Cortex derived primary cultured neurospheres	brain

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