Variant report

Variant	rs28595572
Chromosome Location	chr22:30275168-30275169
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	MAFK	chr22:30275073-30275429	IMR90	lung:	n/a	chr22:30275247-30275262
2	MAFF	chr22:30275084-30275277	K562	blood:	n/a	chr22:30275246-30275264
3	MAFK	chr22:30275084-30275283	HepG2	liver:	n/a	chr22:30275247-30275262
4	MAFK	chr22:30275072-30275436	HepG2	liver:	n/a	chr22:30275247-30275262
5	MAFF	chr22:30275081-30275324	HepG2	liver:	n/a	chr22:30275246-30275264
6	MAFK	chr22:30275073-30275283	K562	blood:	n/a	chr22:30275247-30275262

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30267624..30270362-chr22:30273098..30276358,3	K562	blood:

Variant related genes	Relation type
MTMR3	TF binding region

Extended variants
information (count: 65 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs12484336	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12485243	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16987156	0.92[AMR][1000 genomes]
rs16988084	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16988135	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2097351	0.82[ASN][1000 genomes]
rs2097352	0.85[ASN][1000 genomes]
rs28428766	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28522206	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3788421	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57462999	0.94[AMR][1000 genomes]
rs57653653	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60665668	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61352751	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7284538	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7285751	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7285885	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7290085	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7292732	0.89[AMR][1000 genomes]
rs73161050	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73161074	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73161099	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73162731	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73162773	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73883345	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8138677	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8139217	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8140366	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8140770	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9306466	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9608822	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9608823	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9608836	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9608843	0.83[AMR][1000 genomes]
rs9608845	0.83[AMR][1000 genomes]
rs9614063	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9614071	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9614075	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9614081	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9614083	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9614087	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9614089	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9614097	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9614101	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9614105	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9614108	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9614109	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9614110	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9614111	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9614122	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9614124	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9614127	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9614128	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9614129	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9614131	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9614132	0.90[AMR][1000 genomes]
rs9680595	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9680809	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9983	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
3	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
4	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
5	esv1851082	chr22:30253256-30294744	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv1833221	chr22:30274129-30297376	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs28595572	MTMR3	cis	Adipose Subcutaneous	GTEx
rs28595572	MTMR3	cis	Thyroid	GTEx
rs28595572	MTMR3	cis	lung	GTEx
rs28595572	MTMR3	cis	Artery Tibial	GTEx
rs28595572	MTMR3	Cis_1M	lymphoblastoid	RTeQTL
rs28595572	MTMR3	cis	Nerve Tibial	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30268800-30277800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:30268800-30279000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr22:30269000-30278800	Weak transcription	Adipose Nuclei	Adipose
4	chr22:30270200-30279200	Weak transcription	Spleen	Spleen
5	chr22:30274000-30278800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr22:30274400-30275800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr22:30274400-30278800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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