Variant report

Variant	rs1383033
Chromosome Location	chr8:90378305-90378306
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1479904	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16894918	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16895916	0.87[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.84[TSI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1904519	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1993967	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1993968	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2029276	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2029277	0.91[GIH][hapmap]
rs34011839	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4265228	0.95[EUR][1000 genomes]
rs4458917	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55978831	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62532771	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62532774	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62532801	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs67779407	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv465735	chr8:89760311-90729507	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv611714	chr8:89760311-90729507	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1024956	chr8:90104423-90459539	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv539671	chr8:90104423-90459539	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1032886	chr8:90253748-90398240	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
6	nsv611719	chr8:90337010-90392422	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1383033	MFF	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90370000-90383600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:90378000-90378800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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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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