Variant report

Variant	rs7343065
Chromosome Location	chr19:38387834-38387835
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	chr19:38387761..38390868-chr19:38391934..38396797,4	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs12150862	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12151082	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1643455	1.00[CHB][hapmap]
rs1643459	1.00[CHB][hapmap]
rs17248097	0.85[EUR][1000 genomes]
rs17248670	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17249138	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17249336	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17306900	0.81[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap]
rs2385005	1.00[CHB][hapmap]
rs3859549	1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs4536583	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs4614853	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55752822	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55813548	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55974157	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55983118	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56080901	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56184201	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56207124	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56230664	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56233644	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56246446	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56268127	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56300335	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56676595	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6508755	0.81[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];0.94[MEX][hapmap]
rs705501	1.00[CHB][hapmap]
rs7245855	0.81[CEU][hapmap];1.00[CHB][hapmap];0.92[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap]
rs7245962	0.87[EUR][1000 genomes]
rs7257266	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7258011	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73027472	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73027480	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73034922	0.88[EUR][1000 genomes]
rs73041036	0.84[EUR][1000 genomes]
rs8100199	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs8110293	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs833905	1.00[CHB][hapmap]
rs833919	1.00[CHB][hapmap]
rs833920	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833820	chr19:38190721-38414049	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1064401	chr19:38387797-38427984	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs7343065	ZNF585A	Cis_1M	lymphoblastoid	RTeQTL
rs7343065	AC012309.5	cis	Artery Tibial	GTEx
rs7343065	AC012309.5	cis	Esophagus Mucosa	GTEx
rs7343065	C19orf61	cis	cerebellum	SCAN
rs7343065	AC012309.5	cis	Thyroid	GTEx
rs7343065	PLEKHG2	cis	cerebellum	SCAN
rs7343065	TRAPPC6A	cis	cerebellum	SCAN
rs7343065	ARHGEF1	cis	cerebellum	SCAN
rs7343065	AC012309.5	cis	Heart Left Ventricle	GTEx
rs7343065	MIR933	trans	lymphoblastoid	seeQTL
rs7343065	AC012309.5	cis	Muscle Skeletal	GTEx
rs7343065	AC012309.5	cis	Esophagus Muscularis	GTEx
rs7343065	ZNF781	cis	Thyroid	GTEx
rs7343065	ZNF226	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38386000-38389400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr19:38387000-38389000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr19:38387600-38389200	Weak transcription	Fetal Muscle Leg	muscle

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