Variant report

Variant	rs9614153
Chromosome Location	chr22:30567958-30567959
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12373962	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16987156	0.82[EUR][1000 genomes]
rs16988383	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs57462999	0.81[EUR][1000 genomes]
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]
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]
rs9614143	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9614144	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]
rs9614152	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]

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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs9614153	MTMR3	cis	Adipose Subcutaneous	GTEx
rs9614153	MTMR3	cis	Thyroid	GTEx
rs9614153	MTMR3	cis	Nerve Tibial	GTEx
rs9614153	MTMR3	cis	lung	GTEx
rs9614153	MTMR3	Cis_1M	lymphoblastoid	RTeQTL
rs9614153	MTMR3	cis	Artery Tibial	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30564200-30568600	Enhancers	Thymus	Thymus
2	chr22:30566400-30571600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr22:30566400-30571600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr22:30566400-30573600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr22:30566600-30570200	Weak transcription	Primary T cells from cord blood	blood
6	chr22:30566600-30571600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr22:30566600-30571600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr22:30566600-30571800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr22:30566600-30573400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr22:30566600-30573800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr22:30566800-30571600	Weak transcription	Fetal Thymus	thymus
12	chr22:30567000-30571600	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr22:30567000-30571600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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