Variant report

Variant	rs215340
Chromosome Location	chr12:47732638-47732639
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11183885	0.88[CHB][hapmap]
rs11183893	0.88[CHB][hapmap]
rs11183895	0.86[CHB][hapmap]
rs11183896	0.82[CHB][hapmap]
rs12809955	0.88[CHB][hapmap]
rs1421356	0.88[CHB][hapmap]
rs1833456	0.88[CHB][hapmap];0.85[CHD][hapmap]
rs2074193	0.84[ASN][1000 genomes]
rs215339	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215341	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215342	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs215344	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs215345	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs215346	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs215347	0.90[CEU][hapmap];0.84[MEX][hapmap];0.92[TSI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs215349	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs215359	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs215361	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4768805	0.88[CHB][hapmap]

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	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs215340	C12orf41	cis	cerebellum	SCAN
rs215340	LOC255411	cis	parietal	SCAN
rs215340	PUS7L	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47723200-47742200	Weak transcription	Primary T cells from cord blood	blood
2	chr12:47732400-47735600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr12:47732600-47733000	Enhancers	Spleen	Spleen

Quick Search:

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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