Variant report

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11181057	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11181070	1.00[EUR][1000 genomes]
rs1157533	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12317349	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12322609	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12821086	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1466162	0.93[EUR][1000 genomes]
rs1495774	1.00[EUR][1000 genomes]
rs17129602	0.92[EUR][1000 genomes]
rs17129608	1.00[EUR][1000 genomes]
rs17129618	1.00[EUR][1000 genomes]
rs17650803	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1908592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34776809	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35513252	0.83[AMR][1000 genomes]
rs35594056	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35721446	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[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]
rs7960450	0.99[EUR][1000 genomes]
rs7976841	0.89[EUR][1000 genomes];0.89[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
rs17651187	IQCH	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42024200-42029400	Weak transcription	Fetal Brain Male	brain

Quick Search: