Variant report

Variant	rs7286551
Chromosome Location	chr22:30503212-30503213
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30502959..30506188-chr22:30648757..30654246,8	MCF-7	breast:
2	chr22:30502809..30506298-chr22:30639806..30643736,4	MCF-7	breast:
3	chr22:30502612..30504825-chr22:30819472..30821124,2	MCF-7	breast:
4	chr22:30500122..30506829-chr22:30640771..30648697,14	MCF-7	breast:
5	chr22:30503068..30507568-chr22:30652252..30654579,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128342	Chromatin interaction
ENSG00000268812	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs12373962	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12484336	0.85[AMR][1000 genomes]
rs16987156	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16988084	0.81[AMR][1000 genomes]
rs16988135	0.83[AMR][1000 genomes]
rs28428766	0.85[AMR][1000 genomes]
rs28522206	0.85[AMR][1000 genomes]
rs3788421	0.85[AMR][1000 genomes]
rs57462999	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61352751	0.81[AMR][1000 genomes]
rs7284538	0.85[AMR][1000 genomes]
rs7285751	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7286905	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7290085	0.85[AMR][1000 genomes]
rs7292732	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73161099	0.81[AMR][1000 genomes]
rs73162731	0.81[AMR][1000 genomes]
rs73162773	0.85[AMR][1000 genomes]
rs73164739	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73883345	0.83[AMR][1000 genomes]
rs8138677	0.81[AMR][1000 genomes]
rs8139217	0.87[AMR][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	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9608843	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9608845	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9608847	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9614097	0.81[AMR][1000 genomes]
rs9614105	0.81[AMR][1000 genomes]
rs9614108	0.81[AMR][1000 genomes]
rs9614110	0.83[AMR][1000 genomes]
rs9614111	0.83[AMR][1000 genomes]
rs9614124	0.87[AMR][1000 genomes]
rs9614127	0.87[AMR][1000 genomes]
rs9614128	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9614129	0.84[AMR][1000 genomes]
rs9614131	0.83[AMR][1000 genomes]
rs9614132	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9614143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9614144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9614145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9614152	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs9614153	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs9614155	0.89[EUR][1000 genomes]
rs9680595	0.85[AMR][1000 genomes]
rs9680809	0.85[AMR][1000 genomes]
rs9983	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv588884	chr22:30494371-30590026	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7286551	MTMR3	cis	Adipose Subcutaneous	GTEx
rs7286551	MTMR3	cis	Nerve Tibial	GTEx
rs7286551	MTMR3	cis	Artery Tibial	GTEx
rs7286551	MTMR3	cis	Thyroid	GTEx
rs7286551	MTMR3	cis	lung	GTEx
rs7286551	MTMR3	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30501200-30504400	Weak transcription	NH-A	brain
2	chr22:30501400-30505800	Enhancers	A549	lung
3	chr22:30501600-30504400	Weak transcription	HSMM	muscle
4	chr22:30501800-30511800	Weak transcription	Osteobl	bone
5	chr22:30502000-30503600	Enhancers	Dnd41	blood
6	chr22:30502000-30504600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr22:30502600-30504400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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