Variant report

Variant	rs62425137
Chromosome Location	chr6:133154224-133154225
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:133140438..133142973-chr6:133152186..133155729,4	K562	blood:
2	chr6:133133823..133137064-chr6:133152471..133155832,4	K562	blood:
3	chr6:133146833..133149424-chr6:133152798..133154698,2	K562	blood:
4	chr19:33608688..33609467-chr6:133154061..133154906,2	MCF-7	breast:
5	chr6:133151897..133155334-chr6:133156928..133160559,4	K562	blood:

Variant related genes	Relation type
ENSG00000206754	Chromatin interaction
ENSG00000112306	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10457591	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10457593	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10457595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10457596	0.84[EUR][1000 genomes]
rs10484628	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11154698	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1128998	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11758796	0.81[ASN][1000 genomes]
rs12190684	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12191058	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12193474	0.88[ASN][1000 genomes]
rs12194802	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12195249	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12196336	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12197430	0.88[ASN][1000 genomes]
rs12198849	0.82[EUR][1000 genomes]
rs12198970	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12199381	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12200848	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12201540	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12201769	0.88[ASN][1000 genomes]
rs12202407	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12203738	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12204693	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204740	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204863	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12207011	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12211425	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12212934	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12215084	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12215088	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12215486	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17061751	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2143387	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2294761	0.88[ASN][1000 genomes]
rs28693848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28706652	0.96[ASN][1000 genomes]
rs3778173	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778175	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55708537	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55959738	0.85[ASN][1000 genomes]
rs56170227	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58265543	0.93[ASN][1000 genomes]
rs60062075	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60412119	0.85[ASN][1000 genomes]
rs62424539	0.84[EUR][1000 genomes]
rs62425110	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62425113	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62425114	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62425132	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62425133	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62426668	0.81[ASN][1000 genomes]
rs62426674	0.81[ASN][1000 genomes]
rs9375919	0.88[ASN][1000 genomes]
rs9389032	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9389033	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9402452	0.88[ASN][1000 genomes]
rs9402453	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9402455	0.86[AMR][1000 genomes];0.89[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	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
3	nsv886676	chr6:133111706-133168582	Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
4	esv1806734	chr6:133125643-133168582	Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs62425137	C6orf192	cis	multi-tissue	Pritchard
rs62425137	C6orf192	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133153800-133154400	Enhancers	K562	blood

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