Variant report

Variant	rs11161650
Chromosome Location	chr1:86176945-86176946
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	chr1:86043660..86051626-chr1:86167839..86177430,17	K562	blood:
2	chr1:86046116..86050935-chr1:86168336..86177340,12	K562	blood:

Variant related genes	Relation type
ENSG00000153904	Chromatin interaction
ENSG00000142871	Chromatin interaction
ENSG00000272691	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1047893	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10873716	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10873717	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11161649	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11161651	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11161654	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11161656	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11161657	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11161658	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11161659	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11161660	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11161661	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11161662	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11161663	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11161664	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11161665	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11161667	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12058974	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12063702	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12089500	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12097932	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12564080	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12566746	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12738010	0.87[ASN][1000 genomes]
rs12739713	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12752817	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12756013	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12757270	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12758511	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1539444	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1889919	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1889920	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2069208	0.88[ASN][1000 genomes]
rs2389972	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35438778	0.83[ASN][1000 genomes]
rs3753786	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3753789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3753790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6576784	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6672312	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6689168	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6697535	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7518312	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7520491	0.84[ASN][1000 genomes]
rs7554844	0.84[EUR][1000 genomes];0.88[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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv817212	chr1:86127851-86658426	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv871471	chr1:86143084-86211516	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11161650	ZNHIT6	cis	Adipose Subcutaneous	GTEx
rs11161650	ZNHIT6	cis	Artery Aorta	GTEx
rs11161650	C1orf181	Cis_1M	lymphoblastoid	RTeQTL
rs11161650	ZNHIT6	cis	lung	GTEx
rs11161650	ZNHIT6	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86174400-86185800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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