Variant report

Variant	rs1469347
Chromosome Location	chr2:126401821-126401822
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10192787	0.85[ASN][1000 genomes]
rs11123107	0.92[ASN][1000 genomes]
rs11123108	0.92[ASN][1000 genomes]
rs12053356	0.89[ASN][1000 genomes]
rs12469012	0.91[ASN][1000 genomes]
rs1344626	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1365793	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1427309	0.81[ASN][1000 genomes]
rs1529380	0.82[ASN][1000 genomes]
rs1559911	0.89[ASN][1000 genomes]
rs1593682	0.81[ASN][1000 genomes]
rs1863682	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2052813	0.82[ASN][1000 genomes]
rs2052814	0.82[ASN][1000 genomes]
rs2052817	0.82[ASN][1000 genomes]
rs2114601	0.82[ASN][1000 genomes]
rs2114603	0.91[ASN][1000 genomes]
rs3943891	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3980630	0.86[ASN][1000 genomes]
rs4849033	0.86[ASN][1000 genomes]
rs4849034	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4849035	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62158251	0.82[ASN][1000 genomes]
rs6542010	0.89[ASN][1000 genomes]
rs6714818	0.91[ASN][1000 genomes]
rs6719034	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6725484	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6727498	0.89[ASN][1000 genomes]
rs6728784	0.91[ASN][1000 genomes]
rs6742898	0.83[ASN][1000 genomes]
rs933963	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999840	chr2:125902993-126683646	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1012762	chr2:125902993-126755660	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv535915	chr2:125902993-126755660	ZNF genes & repeats Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1001555	chr2:125904415-126630781	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv535916	chr2:125904415-126630781	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv998839	chr2:126102160-126641282	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv533313	chr2:126129440-126630783	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1000070	chr2:126138320-126915275	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	esv2751825	chr2:126193197-126442014	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1006725	chr2:126232594-126426312	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	esv2760605	chr2:126238109-126480968	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv459219	chr2:126260742-126503735	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv582885	chr2:126260742-126503735	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv870190	chr2:126267468-126699123	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	esv2762806	chr2:126391798-126401821	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs1469347	TAOK3	trans	brain	seeQTL
rs1469347	GPR126	trans	brain	seeQTL
rs1469347	MAFF	trans	brain	seeQTL
rs1469347	UGT3A1	trans	brain	seeQTL
rs1469347	CRYBB3	trans	brain	seeQTL
rs1469347	TNFAIP3	trans	brain	seeQTL
rs1469347	CFLAR	trans	brain	seeQTL
rs1469347	EFCAB11	trans	brain	seeQTL
rs1469347	DDX53	trans	brain	seeQTL
rs1469347	PROC	cis	parietal	SCAN
rs1469347	EHF	trans	brain	seeQTL
rs1469347	SERPINB7	trans	brain	seeQTL
rs1469347	FADS6	trans	brain	seeQTL
rs1469347	OVOL1	trans	brain	seeQTL
rs1469347	STARD6	trans	brain	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:126401200-126402000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:126401600-126402000	Enhancers	Adipose Nuclei	Adipose
3	chr2:126401600-126402000	Enhancers	Rectal Mucosa Donor 29	rectum
4	chr2:126401800-126402200	Enhancers	GM12878-XiMat	blood

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