Variant report

Variant	rs218312
Chromosome Location	chr2:172060198-172060199
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13384675	0.84[ASN][1000 genomes]
rs13408729	0.81[ASN][1000 genomes]
rs218309	0.91[EUR][1000 genomes]
rs218310	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs218311	0.85[EUR][1000 genomes]
rs218313	0.92[EUR][1000 genomes]
rs218314	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs218315	0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv979348	chr2:172057884-172068984	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs218312	TLK1	cis	normal skin	skin_eQTL
rs218312	BBS5	cis	parietal	SCAN
rs218312	DLX1	cis	cerebellum	SCAN
rs218312	GAD1	cis	parietal	SCAN
rs218312	TLK1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172054600-172066200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:172058200-172063200	Weak transcription	K562	blood

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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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