Variant report

Variant	rs12211300
Chromosome Location	chr6:24161869-24161870
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1053047	0.81[CEU][hapmap]
rs10946675	0.81[CEU][hapmap]
rs10946679	0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs13203341	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1340694	0.85[ASN][1000 genomes]
rs1832708	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28385635	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs36060488	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3857540	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4582376	0.92[CEU][hapmap];0.92[CHB][hapmap];0.93[GIH][hapmap];0.80[MEX][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4712803	0.81[ASN][1000 genomes]
rs4712804	0.94[JPT][hapmap]

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	nsv1029930	chr6:23481989-24289948	Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv1798372	chr6:24158542-24181477	Weak transcription Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12211300	BTN3A3	cis	cerebellum	SCAN
rs12211300	KAAG1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24153800-24200800	Weak transcription	H1 Derived Mesenchymal Stem 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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