Variant report

Variant	rs493380
Chromosome Location	chr7:99418326-99418327
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99415648..99420194-chr7:99515880..99518686,4	MCF-7	breast:
2	chr7:99217535..99219333-chr7:99417446..99419082,2	K562	blood:
3	chr7:99418069..99420911-chr7:99424832..99427207,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000021461	Chromatin interaction
ENSG00000146833	Chromatin interaction
ENSG00000197037	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10255255	1.00[EUR][1000 genomes]
rs10275362	1.00[EUR][1000 genomes]
rs17161786	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1965481	1.00[EUR][1000 genomes]
rs2015504	1.00[EUR][1000 genomes]
rs2404767	1.00[EUR][1000 genomes]
rs2687089	1.00[EUR][1000 genomes]
rs2687095	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2687102	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2687103	1.00[ASW][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2687107	1.00[EUR][1000 genomes]
rs2687110	1.00[EUR][1000 genomes]
rs2687127	1.00[EUR][1000 genomes]
rs2737418	1.00[EUR][1000 genomes]
rs2738258	1.00[EUR][1000 genomes]
rs2740570	1.00[EUR][1000 genomes]
rs28808927	1.00[EUR][1000 genomes]
rs28988585	1.00[EUR][1000 genomes]
rs34314536	1.00[EUR][1000 genomes]
rs34402397	1.00[EUR][1000 genomes]
rs41300737	1.00[EUR][1000 genomes]
rs41303946	1.00[EUR][1000 genomes]
rs473706	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs496000	0.81[LWK][hapmap]
rs4986911	1.00[EUR][1000 genomes]
rs56337765	1.00[EUR][1000 genomes]
rs58679015	1.00[EUR][1000 genomes]
rs58750403	1.00[EUR][1000 genomes]
rs663495	0.85[AFR][1000 genomes]
rs73408563	1.00[EUR][1000 genomes]
rs73408565	1.00[EUR][1000 genomes]
rs73711661	1.00[EUR][1000 genomes]
rs73711662	1.00[EUR][1000 genomes]
rs73711666	1.00[EUR][1000 genomes]
rs73711671	1.00[EUR][1000 genomes]
rs73711677	1.00[EUR][1000 genomes]
rs73711681	1.00[EUR][1000 genomes]
rs73711684	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1827709	chr7:99353500-99440051	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv970418	chr7:99413271-99420442	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs493380	COPS6	cis	lymphoblastoid	seeQTL
rs493380	AP4M1	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99416600-99420000	Weak transcription	Adipose Nuclei	Adipose
2	chr7:99418000-99420400	Weak transcription	Liver	Liver
3	chr7:99418200-99419000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:99418200-99420000	Weak transcription	HepG2	liver

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