Variant report

Variant	rs12735331
Chromosome Location	chr1:175413886-175413887
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16848423	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs28613886	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34370670	0.88[EUR][1000 genomes]
rs34605676	0.94[EUR][1000 genomes]
rs35140512	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36037377	0.96[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs36139619	0.90[EUR][1000 genomes]
rs57442025	0.97[EUR][1000 genomes]
rs57443533	0.97[EUR][1000 genomes]
rs66584940	0.95[EUR][1000 genomes]
rs6683279	0.81[AFR][1000 genomes]
rs74130303	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs984872	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2764232	chr1:175387997-175504394	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv1792278	chr1:175404515-175429913	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12735331	MFNG	trans	cerebellum	SCAN
rs12735331	GORAB	cis	parietal	SCAN
rs12735331	PIGC	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175411600-175414800	Weak transcription	Fetal Brain Male	brain
2	chr1:175413600-175417800	Weak transcription	GM12878-XiMat	blood
3	chr1:175413800-175414000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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Input of quick search could be:

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

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