Variant report

Variant	rs12821086
Chromosome Location	chr12:42021876-42021877
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:42020404..42022479-chr12:42024627..42027388,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10506206	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs11181057	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11181070	1.00[EUR][1000 genomes]
rs1157533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12298745	0.80[CHB][hapmap]
rs12301166	0.80[CHB][hapmap]
rs12310013	0.81[CHB][hapmap]
rs12310084	0.80[CHB][hapmap]
rs12317349	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12322609	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12812871	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs12813157	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1466162	0.93[EUR][1000 genomes]
rs1495774	1.00[EUR][1000 genomes]
rs17129513	0.81[CHB][hapmap]
rs17129602	0.92[EUR][1000 genomes]
rs17129608	1.00[EUR][1000 genomes]
rs17129618	1.00[EUR][1000 genomes]
rs17650803	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17651187	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1908592	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs285549	0.80[CHB][hapmap]
rs285550	0.81[CHB][hapmap]
rs34776809	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35513252	0.83[AMR][1000 genomes]
rs35594056	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35721446	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35770975	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3847986	1.00[EUR][1000 genomes]
rs66645579	0.93[EUR][1000 genomes]
rs67237911	1.00[EUR][1000 genomes]
rs7307151	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs7313050	0.81[CHB][hapmap]
rs7313159	0.81[CHB][hapmap]
rs7960450	0.99[EUR][1000 genomes]
rs7976841	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12821086	IQCH	trans	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42020600-42022200	Enhancers	Brain Germinal Matrix	brain
2	chr12:42021000-42024200	Enhancers	Fetal Brain Male	brain
3	chr12:42021400-42022200	Enhancers	Fetal Brain Female	brain

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