Variant report

Variant	rs12639593
Chromosome Location	chr3:68650950-68650951
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13092228	0.84[ASN][1000 genomes]
rs1511910	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17047903	0.84[ASN][1000 genomes]
rs4390928	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4855340	0.82[ASN][1000 genomes]
rs56025024	0.83[AMR][1000 genomes]
rs56278754	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73098743	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7611990	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7633481	0.80[AMR][1000 genomes];0.93[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	nsv3862	chr3:68608012-68653563	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
2	nsv997335	chr3:68629587-68661747	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12639593	FAM19A1	cis	cerebellum	SCAN
rs12639593	UBA3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:68649600-68652400	Weak transcription	H1 BMP4 Derived Trophoblast 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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