Variant report

Variant	rs2029692
Chromosome Location	chr12:66993162-66993163
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10506487	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176269	1.00[ASN][1000 genomes]
rs12367359	1.00[ASN][1000 genomes]
rs1493487	1.00[ASN][1000 genomes]
rs17102710	1.00[ASN][1000 genomes]
rs17102740	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4913348	1.00[ASN][1000 genomes]
rs56134325	1.00[ASN][1000 genomes]
rs73125060	1.00[ASN][1000 genomes]
rs73125073	1.00[ASN][1000 genomes]
rs73125085	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73127126	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73127184	1.00[ASN][1000 genomes]
rs73128833	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv832449	chr12:66885819-67069953	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3325978	chr12:66920993-67016708	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv559207	chr12:66992868-66995266	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2029692	IRAK3	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66983400-66994800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:66984600-66994800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr12:66984800-66993800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:66990400-66994600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:66991400-66994800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:66991400-66994800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:66991400-66995000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:66991600-66994800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:66991600-66994800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:66991600-66995000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:66992000-66994800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:66992600-66993200	Enhancers	Fetal Brain Male	brain
13	chr12:66992600-66994000	Enhancers	Fetal Kidney	kidney
14	chr12:66992600-66994600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:66992600-66995600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:66993000-66993200	Enhancers	Fetal Brain Female	brain

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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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