Variant report

Variant	rs60567392
Chromosome Location	chr11:77359910-77359911
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:77354160..77357208-chr11:77357754..77360174,4	K562	blood:
2	chr11:77348510..77350805-chr11:77358288..77361555,3	K562	blood:
3	chr11:77300520..77303029-chr11:77359483..77361400,2	K562	blood:

Variant related genes	Relation type
ENSG00000074201	Chromatin interaction
ENSG00000178301	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs11237271	0.82[ASN][1000 genomes]
rs11237274	0.81[ASN][1000 genomes]
rs12418734	0.85[ASN][1000 genomes]
rs12418844	0.81[ASN][1000 genomes]
rs12421699	0.82[ASN][1000 genomes]
rs12575014	0.81[ASN][1000 genomes]
rs12575150	0.85[ASN][1000 genomes]
rs12806790	0.82[ASN][1000 genomes]
rs1544272	0.82[ASN][1000 genomes]
rs1544273	0.82[ASN][1000 genomes]
rs1544274	0.82[ASN][1000 genomes]
rs17135800	0.82[ASN][1000 genomes]
rs17135807	0.82[ASN][1000 genomes]
rs17135809	0.82[ASN][1000 genomes]
rs17135811	0.82[ASN][1000 genomes]
rs2154988	0.81[ASN][1000 genomes]
rs2186573	0.82[ASN][1000 genomes]
rs2298820	0.87[ASN][1000 genomes]
rs28930682	0.85[ASN][1000 genomes]
rs34446294	0.82[ASN][1000 genomes]
rs3781617	0.85[ASN][1000 genomes]
rs3949117	0.81[ASN][1000 genomes]
rs4531493	0.81[ASN][1000 genomes]
rs4945197	0.85[ASN][1000 genomes]
rs4945202	0.80[ASN][1000 genomes]
rs4945203	0.80[ASN][1000 genomes]
rs4945204	0.81[ASN][1000 genomes]
rs4945205	0.81[ASN][1000 genomes]
rs56097222	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56372481	0.84[ASN][1000 genomes]
rs56817084	0.81[ASN][1000 genomes]
rs57332020	0.89[ASN][1000 genomes]
rs57687790	0.87[ASN][1000 genomes]
rs59404463	0.81[ASN][1000 genomes]
rs59520338	0.85[ASN][1000 genomes]
rs6592740	0.85[ASN][1000 genomes]
rs6592742	0.85[ASN][1000 genomes]
rs66472445	0.82[ASN][1000 genomes]
rs66664368	0.81[ASN][1000 genomes]
rs66675536	0.81[ASN][1000 genomes]
rs66681087	0.82[ASN][1000 genomes]
rs66738005	0.82[ASN][1000 genomes]
rs66924979	0.81[ASN][1000 genomes]
rs66991096	0.82[ASN][1000 genomes]
rs67035387	0.85[ASN][1000 genomes]
rs67195676	0.81[ASN][1000 genomes]
rs67291795	0.80[ASN][1000 genomes]
rs67313689	0.82[ASN][1000 genomes]
rs67555375	0.80[ASN][1000 genomes]
rs67680371	0.80[ASN][1000 genomes]
rs67775318	0.80[ASN][1000 genomes]
rs67881763	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7109199	0.81[ASN][1000 genomes]
rs7116671	0.81[ASN][1000 genomes]
rs7118516	0.85[ASN][1000 genomes]
rs7119471	0.81[ASN][1000 genomes]
rs7124030	0.81[ASN][1000 genomes]
rs7124753	0.80[ASN][1000 genomes]
rs720383	0.81[ASN][1000 genomes]
rs72947606	0.85[ASN][1000 genomes]
rs72947653	0.80[ASN][1000 genomes]
rs7482006	0.87[ASN][1000 genomes]
rs7932057	0.85[ASN][1000 genomes]
rs7939623	0.87[ASN][1000 genomes]
rs7950631	0.87[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	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1038974	chr11:77284036-77431228	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1041384	chr11:77284558-77419809	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1048892	chr11:77290458-77431228	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1053074	chr11:77290458-77435831	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv468641	chr11:77301341-77420314	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	nsv555452	chr11:77301341-77420314	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv1035494	chr11:77309696-77431228	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs60567392	AAMDC	cis	Artery Tibial	GTEx
rs60567392	INTS4	Cis_1M	lymphoblastoid	RTeQTL
rs60567392	RSF1	Cis_1M	lymphoblastoid	RTeQTL
rs60567392	RP11-91P24.6	cis	Artery Tibial	GTEx
rs60567392	RP11-91P24.7	cis	Artery Tibial	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77356000-77361200	Weak transcription	HepG2	liver
2	chr11:77356000-77377800	Weak transcription	Osteobl	bone
3	chr11:77356800-77361000	Weak transcription	K562	blood
4	chr11:77359400-77368600	Weak transcription	HSMMtube	muscle

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