Variant report

Variant	rs992478
Chromosome Location	chr12:60532121-60532122
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:60532105..60534089-chr12:60535432..60537757,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10784027	0.82[EUR][1000 genomes]
rs10784028	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10784029	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10877398	0.81[AMR][1000 genomes]
rs10877401	0.81[AMR][1000 genomes]
rs10877402	0.81[AMR][1000 genomes]
rs10877406	0.81[AMR][1000 genomes]
rs11173319	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11173338	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11173357	0.81[AMR][1000 genomes]
rs11173365	0.81[AMR][1000 genomes]
rs1389255	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1493311	0.81[AMR][1000 genomes]
rs1504444	0.80[AMR][1000 genomes]
rs2014074	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2134882	0.80[AMR][1000 genomes]
rs2172500	0.81[AMR][1000 genomes]
rs35713358	0.80[AMR][1000 genomes]
rs3847662	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3847663	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3907482	0.87[AMR][1000 genomes]
rs4093759	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4254103	0.80[AMR][1000 genomes]
rs4366523	0.80[AMR][1000 genomes]
rs4406858	0.81[AMR][1000 genomes]
rs4625509	0.83[AMR][1000 genomes]
rs4758855	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7134663	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7138854	0.80[AMR][1000 genomes]
rs7298315	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7300532	0.88[AMR][1000 genomes]
rs7967860	0.88[AMR][1000 genomes]
rs7977065	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428591	chr12:60446360-60631044	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv427913	chr12:60462443-60569344	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2760273	chr12:60489188-60561925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv511495	chr12:60518599-60541932	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv559107	chr12:60518842-60540108	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv559108	chr12:60518842-60548334	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv559119	chr12:60522630-60540108	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv1793962	chr12:60522630-60541932	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv1846332	chr12:60522725-60541932	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv1851665	chr12:60522725-60549171	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv559129	chr12:60522829-60540108	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv559136	chr12:60523425-60540108	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3389645	chr12:60530835-60533233	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs992478	KIAA1143	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60532000-60536800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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