Variant report

Variant	rs9614144
Chromosome Location	chr22:30501486-30501487
allele	A/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	E2F6	chr22:30500887-30501514	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30500122..30506829-chr22:30640771..30648697,14	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226573	TF binding region
ENSG00000268812	Chromatin interaction
ENSG00000128342	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11913168	0.83[CHB][hapmap]
rs12373962	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12484336	0.85[AMR][1000 genomes]
rs16987156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];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	0.84[CEU][hapmap];0.84[CHB][hapmap];0.83[AMR][1000 genomes]
rs16988383	0.92[CHB][hapmap];1.00[YRI][hapmap]
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	0.92[CEU][hapmap];0.83[CHB][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes]
rs7285751	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7286551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	0.92[CEU][hapmap];0.83[CHB][hapmap];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]
rs9614122	0.92[CEU][hapmap];0.83[CHB][hapmap]
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	0.92[CEU][hapmap];0.83[CHB][hapmap];0.93[YRI][hapmap];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]
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	0.92[CEU][hapmap];0.83[CHB][hapmap];1.00[YRI][hapmap];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
rs9614144	MTMR3	cis	Adipose Subcutaneous	GTEx
rs9614144	MTMR3	cis	Nerve Tibial	GTEx
rs9614144	MTMR3	cis	Artery Tibial	GTEx
rs9614144	MTMR3	cis	Thyroid	GTEx
rs9614144	MTMR3	cis	lung	GTEx
rs9614144	MTMR3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30499400-30501800	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr22:30499400-30502000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr22:30499800-30501600	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr22:30499800-30501800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr22:30499800-30502000	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr22:30500000-30501800	Enhancers	Primary T cells from cord blood	blood
7	chr22:30500000-30501800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr22:30500000-30502000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr22:30500200-30501600	Enhancers	HSMM	muscle
10	chr22:30500200-30501800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr22:30500400-30501800	Enhancers	Osteobl	bone
12	chr22:30500400-30502000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr22:30500600-30501800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr22:30500800-30501800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr22:30501000-30501600	Enhancers	Thymus	Thymus
16	chr22:30501000-30502000	Flanking Active TSS	Dnd41	blood
17	chr22:30501200-30504400	Weak transcription	NH-A	brain
18	chr22:30501400-30501600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr22:30501400-30505800	Enhancers	A549	lung

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