Variant report

Variant	rs789940
Chromosome Location	chr6:63807148-63807149
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1067639	0.94[EUR][1000 genomes]
rs1067641	0.81[EUR][1000 genomes]
rs1086290	0.88[EUR][1000 genomes]
rs1086292	0.88[EUR][1000 genomes]
rs1086293	0.88[EUR][1000 genomes]
rs1674820	0.94[EUR][1000 genomes]
rs2185573	0.88[EUR][1000 genomes]
rs4269352	0.94[EUR][1000 genomes]
rs4710247	0.94[EUR][1000 genomes]
rs62417112	0.94[EUR][1000 genomes]
rs62417115	0.94[EUR][1000 genomes]
rs62417116	0.94[EUR][1000 genomes]
rs62417117	0.94[EUR][1000 genomes]
rs62417118	0.94[EUR][1000 genomes]
rs62417119	0.94[EUR][1000 genomes]
rs62417120	0.94[EUR][1000 genomes]
rs6922625	0.94[EUR][1000 genomes]
rs704496	0.94[EUR][1000 genomes]
rs704498	0.94[EUR][1000 genomes]
rs789770	0.94[EUR][1000 genomes]
rs789772	0.94[EUR][1000 genomes]
rs789938	0.94[EUR][1000 genomes]
rs789939	0.94[EUR][1000 genomes]
rs789941	0.94[EUR][1000 genomes]
rs789946	0.94[EUR][1000 genomes]
rs789947	0.94[EUR][1000 genomes]
rs813148	0.94[EUR][1000 genomes]
rs9294063	0.91[EUR][1000 genomes]
rs9343595	0.94[EUR][1000 genomes]
rs9350702	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019831	chr6:63279677-64230736	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv821649	chr6:63511879-63888251	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1025099	chr6:63514227-64055649	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv885988	chr6:63615339-63830759	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv538270	chr6:63682752-64147241	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	esv2758058	chr6:63706622-63985889	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv2759434	chr6:63706622-63985889	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv34515	chr6:63723341-63849774	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv2757170	chr6:63723378-63871248	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv818420	chr6:63726777-63836640	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv885992	chr6:63733495-63863434	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs789940	MALAT1	trans	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:63805800-63808000	Enhancers	GM12878-XiMat	blood
2	chr6:63806800-63807800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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