Variant report

Variant	rs1466162
Chromosome Location	chr12:42040218-42040219
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11181057	0.83[EUR][1000 genomes]
rs11181060	0.81[ASN][1000 genomes]
rs11181069	0.82[ASN][1000 genomes]
rs11181070	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1157533	0.93[EUR][1000 genomes]
rs12317349	0.83[EUR][1000 genomes]
rs12321449	0.81[ASN][1000 genomes]
rs12322609	0.83[EUR][1000 genomes]
rs12821086	0.93[EUR][1000 genomes]
rs1495774	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17129602	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17129608	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17129617	0.81[ASN][1000 genomes]
rs17129618	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17650803	0.85[EUR][1000 genomes]
rs17651187	0.93[EUR][1000 genomes]
rs1811493	0.81[ASN][1000 genomes]
rs1908592	0.93[EUR][1000 genomes]
rs1975646	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1975647	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1975648	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2084721	0.81[ASN][1000 genomes]
rs2167350	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2167351	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs34776809	0.83[EUR][1000 genomes]
rs35594056	0.82[EUR][1000 genomes]
rs35652246	0.81[ASN][1000 genomes]
rs35721446	0.83[EUR][1000 genomes]
rs35770975	1.00[EUR][1000 genomes]
rs3847986	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3948059	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4143442	0.80[ASN][1000 genomes]
rs66645579	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67237911	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7954132	0.81[ASN][1000 genomes]
rs7960450	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7976841	0.83[EUR][1000 genomes]
rs921441	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3337301	chr12:41851654-42093677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv899040	chr12:41905897-42181706	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv899041	chr12:42005690-42072514	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv832386	chr12:42017259-42189476	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv870246	chr12:42028555-42066192	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv899042	chr12:42031131-42072514	Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1040209	chr12:42031660-42060070	Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1053183	chr12:42037480-42059813	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1053830	chr12:42037480-42060070	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv520892	chr12:42038171-42058138	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv558701	chr12:42038171-42105409	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1466162	IQCH	trans	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42038000-42042200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:42039800-42041400	Enhancers	Brain Anterior Caudate	brain
3	chr12:42039800-42041400	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr12:42039800-42041600	Enhancers	Brain Substantia Nigra	brain
5	chr12:42040000-42041400	Enhancers	Brain Cingulate Gyrus	brain

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