Variant report

Variant	rs4348178
Chromosome Location	chr5:54030588-54030589
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:54024735..54028634-chr5:54029831..54032905,3	K562	blood:
2	chr5:54017315..54018938-chr5:54030399..54032584,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11741898	0.81[EUR][1000 genomes]
rs12516090	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12516335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12516850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12516870	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12523476	0.86[AMR][1000 genomes]
rs1373990	0.84[EUR][1000 genomes]
rs1562232	0.82[EUR][1000 genomes]
rs1979010	0.83[AFR][1000 genomes]
rs1979011	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2121132	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3923240	0.84[EUR][1000 genomes]
rs4282276	0.82[EUR][1000 genomes]
rs4286627	0.82[EUR][1000 genomes]
rs4353983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4353984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4359998	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4482860	0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs4485879	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4588542	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4604146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4865867	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4865868	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56046642	0.82[AMR][1000 genomes]
rs6450240	0.82[EUR][1000 genomes]
rs6450242	0.82[EUR][1000 genomes]
rs6877012	0.84[AMR][1000 genomes]
rs6881842	0.81[EUR][1000 genomes]
rs6893796	0.83[EUR][1000 genomes]
rs7719575	0.82[EUR][1000 genomes]
rs7727742	0.82[EUR][1000 genomes]
rs9292068	0.82[EUR][1000 genomes]
rs977207	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs977208	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs977209	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][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	nsv880717	chr5:54025701-54106378	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54017000-54038000	Weak transcription	Aorta	Aorta
2	chr5:54026200-54031600	Weak transcription	Fetal Heart	heart
3	chr5:54027400-54035800	Weak transcription	Primary B cells from cord blood	blood
4	chr5:54029400-54031600	Weak transcription	NHDF-Ad	bronchial

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