Variant report

Variant	rs285429
Chromosome Location	chr1:165421240-165421241
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10753678	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12726616	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12744849	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1467664	0.86[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs157880	0.85[JPT][hapmap]
rs166899	0.85[JPT][hapmap]
rs285428	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs517456	0.85[JPT][hapmap]
rs878179	0.98[EUR][1000 genomes];0.92[ASN][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	esv2756868	chr1:165417526-165425536	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv2758974	chr1:165417526-165425536	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs285429	PLS3	trans	lymphoblastoid	seeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165415400-165422000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:165420400-165424400	Enhancers	Fetal Muscle Leg	muscle
3	chr1:165421000-165421600	Enhancers	Fetal Heart	heart
4	chr1:165421000-165422400	Enhancers	Psoas Muscle	Psoas
5	chr1:165421000-165422400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr1:165421200-165422000	Weak transcription	Left Ventricle	heart

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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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