Variant report

Variant	rs12431525
Chromosome Location	chr14:78093428-78093429
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12431896	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12433954	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434701	0.97[ASN][1000 genomes]
rs12436803	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs176895	0.90[ASN][1000 genomes]
rs176896	0.90[ASN][1000 genomes]
rs176899	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs176906	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs176908	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs176911	0.90[ASN][1000 genomes]
rs176912	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17751917	0.83[ASN][1000 genomes]
rs17751923	0.83[ASN][1000 genomes]
rs17751980	0.83[ASN][1000 genomes]
rs17751993	0.83[ASN][1000 genomes]
rs17752165	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17752262	0.81[ASN][1000 genomes]
rs17824984	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17825014	0.83[ASN][1000 genomes]
rs17825229	0.87[ASN][1000 genomes]
rs17825235	0.81[ASN][1000 genomes]
rs2178877	0.83[ASN][1000 genomes]
rs2364578	0.83[ASN][1000 genomes]
rs2886122	0.87[ASN][1000 genomes]
rs2886132	0.83[ASN][1000 genomes]
rs35389286	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4497612	0.83[ASN][1000 genomes]
rs55799811	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58312042	0.93[ASN][1000 genomes]
rs59721556	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832835	chr14:77906706-78095207	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1053810	chr14:77987871-78148320	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1051554	chr14:78004196-78122980	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12431525	ADCK1	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78093200-78093800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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