Variant report

Variant	rs3847986
Chromosome Location	chr12:42021647-42021648
allele	C/G
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: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1020536	0.83[ASN][1000 genomes]
rs1020537	0.83[ASN][1000 genomes]
rs10506202	0.87[ASN][1000 genomes]
rs11181057	0.89[EUR][1000 genomes]
rs11181060	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11181069	0.95[ASN][1000 genomes]
rs11181070	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1157533	1.00[EUR][1000 genomes]
rs12317349	0.89[EUR][1000 genomes]
rs12321449	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12322609	0.89[EUR][1000 genomes]
rs12821086	1.00[EUR][1000 genomes]
rs1466162	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1495774	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1603305	0.85[ASN][1000 genomes]
rs17129602	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17129608	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17129617	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17129618	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17650803	0.92[EUR][1000 genomes]
rs17651187	1.00[EUR][1000 genomes]
rs1811493	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1908592	1.00[EUR][1000 genomes]
rs2084721	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs34776809	0.89[EUR][1000 genomes]
rs35594056	0.88[EUR][1000 genomes]
rs35652246	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs35721446	0.89[EUR][1000 genomes]
rs35770975	0.93[EUR][1000 genomes]
rs4143442	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs66645579	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs67237911	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7133433	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73120242	0.82[ASN][1000 genomes]
rs7954132	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7960323	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7960450	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7974806	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7976841	0.89[EUR][1000 genomes]
rs921441	0.89[AMR][1000 genomes];0.97[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
rs3847986	IQCH	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42020600-42022200	Enhancers	Brain Germinal Matrix	brain
2	chr12:42021000-42021800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr12:42021000-42024200	Enhancers	Fetal Brain Male	brain
4	chr12:42021200-42021800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:42021400-42022200	Enhancers	Fetal Brain Female	brain

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