Variant report

Variant	rs62180963
Chromosome Location	chr2:191256049-191256050
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191249164..191251293-chr2:191253253..191256849,3	MCF-7	breast:
2	chr2:191247544..191249151-chr2:191255420..191256971,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10804034	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10931455	0.83[EUR][1000 genomes]
rs11673788	0.83[EUR][1000 genomes]
rs11673921	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11674229	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11685221	0.81[EUR][1000 genomes]
rs11695681	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17801596	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36064835	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4324341	0.83[EUR][1000 genomes]
rs4343493	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4597559	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4638823	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4853701	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55901912	0.83[EUR][1000 genomes]
rs55918914	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56094872	0.83[EUR][1000 genomes]
rs56337518	0.83[EUR][1000 genomes]
rs61743479	0.81[EUR][1000 genomes]
rs62180964	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62180981	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62180988	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62180989	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62181001	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62181002	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62181014	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62181015	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62181017	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62181024	0.84[EUR][1000 genomes]
rs62181026	0.84[EUR][1000 genomes]
rs62181027	0.84[EUR][1000 genomes]
rs62181031	0.84[EUR][1000 genomes]
rs62181032	0.81[EUR][1000 genomes]
rs62181033	0.83[EUR][1000 genomes]
rs62181036	0.83[EUR][1000 genomes]
rs6707836	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6708018	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6725814	0.89[ASN][1000 genomes]
rs6742904	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6753226	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6756354	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6757698	0.83[EUR][1000 genomes]
rs72903331	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72905231	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72905290	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72907168	0.81[EUR][1000 genomes]
rs7572139	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7573621	0.83[EUR][1000 genomes]
rs7721	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410695	chr2:191255814-191256321	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs62180963	HIBCH	Cis_1M	lymphoblastoid	RTeQTL
rs62180963	FLJ20160	cis	multi-tissue	Pritchard
rs62180963	FLJ20160	Cis_1M	lymphoblastoid	RTeQTL
rs62180963	TMEM194B	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191256000-191256400	Enhancers	K562	blood

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