Variant report

Variant	rs4678469
Chromosome Location	chr3:34502246-34502247
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:34325094..34326771-chr3:34500714..34502668,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1013979	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12186048	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12632962	0.89[ASN][1000 genomes]
rs1358615	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1406568	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1518886	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1518887	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1529072	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1609403	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17031629	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17031637	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17031657	0.89[ASN][1000 genomes]
rs1919618	0.92[ASN][1000 genomes]
rs1919619	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1919620	0.94[ASN][1000 genomes]
rs1949470	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2077806	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2167040	0.83[AMR][1000 genomes]
rs34843235	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34896219	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35289126	0.90[ASN][1000 genomes]
rs35703530	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35905703	0.81[AMR][1000 genomes]
rs35929503	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4678468	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6768570	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6788612	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73058737	0.91[ASN][1000 genomes]
rs9311051	0.95[ASN][1000 genomes]
rs9816663	0.83[AMR][1000 genomes]
rs9824579	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9836767	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9842247	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9854604	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9858557	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9861656	0.93[ASN][1000 genomes]
rs9880774	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916961	chr3:34203879-34506554	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv876683	chr3:34451940-34536095	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1007906	chr3:34466966-34607465	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3333833	chr3:34480997-34525040	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4678469	CMTM8	cis	parietal	SCAN
rs4678469	EPM2AIP1	cis	cerebellum	SCAN
rs4678469	MYD88	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:34501600-34502400	ZNF genes & repeats	Aorta	Aorta

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