Variant report

Variant	rs17774040
Chromosome Location	chr12:4697726-4697727
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10774250	0.81[EUR][1000 genomes]
rs11063260	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11608880	0.81[EUR][1000 genomes]
rs11612861	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs16931572	0.91[ASN][1000 genomes]
rs17774142	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2072358	0.81[EUR][1000 genomes]
rs2109097	0.81[EUR][1000 genomes]
rs2299835	0.80[EUR][1000 genomes]
rs3741926	0.92[ASN][1000 genomes]
rs4766261	0.81[EUR][1000 genomes]
rs67338449	0.81[EUR][1000 genomes]
rs997868	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[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	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17774040	AKAP3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4682800-4699600	Weak transcription	Primary B cells from cord blood	blood
2	chr12:4689400-4698800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr12:4696000-4697800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr12:4696000-4702400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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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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