Variant report

Variant	rs9614152
Chromosome Location	chr22:30563343-30563344
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30562125..30563712-chr22:30568524..30571379,2	MCF-7	breast:
2	chr22:30562803..30564528-chr22:30605474..30607789,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12373962	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16987156	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs16988135	0.92[CEU][hapmap];1.00[JPT][hapmap]
rs16988383	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs57462999	0.81[EUR][1000 genomes]
rs7284538	0.92[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.85[TSI][hapmap];0.86[YRI][hapmap]
rs7286551	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7286905	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7292732	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs73164739	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8139217	0.82[ASW][hapmap];0.92[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap]
rs9608843	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9608845	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9608847	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9614122	0.92[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.85[TSI][hapmap]
rs9614131	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs9614143	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9614144	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs9614145	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9614153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9614155	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9983	0.91[ASW][hapmap];0.92[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap]

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	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
4	nsv834173	chr22:30515092-30658277	Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv527188	chr22:30529741-30581722	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs9614152	MTMR3	cis	Thyroid	GTEx
rs9614152	MTMR3	cis	Adipose Subcutaneous	GTEx
rs9614152	MTMR3	cis	Nerve Tibial	GTEx
rs9614152	CRYBB2P1	cis	cerebellum	SCAN
rs9614152	MTMR3	cis	lung	GTEx
rs9614152	INPP5J	cis	cerebellum	SCAN
rs9614152	MTMR3	Cis_1M	lymphoblastoid	RTeQTL
rs9614152	MTMR3	cis	Artery Tibial	GTEx
rs9614152	MTMR3	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30557600-30563400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr22:30558200-30563800	Weak transcription	Dnd41	blood
3	chr22:30558400-30564400	Weak transcription	Fetal Thymus	thymus
4	chr22:30563000-30563600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr22:30563000-30563800	Enhancers	Thymus	Thymus
6	chr22:30563000-30564600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr22:30563000-30567000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr22:30563200-30566600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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