Variant report

Variant	rs12754978
Chromosome Location	chr1:90814006-90814007
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1004440	1.00[ASN][1000 genomes]
rs12022847	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12723369	1.00[ASN][1000 genomes]
rs12724553	1.00[ASN][1000 genomes]
rs12724648	1.00[ASN][1000 genomes]
rs12732838	1.00[ASN][1000 genomes]
rs12734840	1.00[ASN][1000 genomes]
rs12743565	1.00[ASN][1000 genomes]
rs12744478	1.00[ASN][1000 genomes]
rs12752313	1.00[ASN][1000 genomes]
rs17510469	1.00[ASN][1000 genomes]
rs34919097	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4564125	0.80[EUR][1000 genomes]
rs699535	1.00[ASN][1000 genomes]
rs71666242	1.00[ASN][1000 genomes]
rs71666243	1.00[ASN][1000 genomes]
rs71666253	1.00[ASN][1000 genomes]
rs71666259	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv524317	chr1:90729744-90836739	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv521123	chr1:90770566-90836739	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv870546	chr1:90783440-90816579	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1000787	chr1:90809476-90874481	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3394726	chr1:90811671-91019675	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12754978	CD36	trans	lymphoblastoid	seeQTL
rs12754978	IL1R2	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:90813400-90814200	Weak transcription	Dnd41	blood

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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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