Variant report

Variant	rs62055459
Chromosome Location	chr16:30398408-30398409
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	chr16:30398396..30400573-chr16:30403771..30407430,3	MCF-7	breast:
2	chr16:30397951..30401076-chr16:30405102..30407529,3	K562	blood:

Variant related genes	Relation type
ENSG00000180035	Chromatin interaction
ENSG00000180096	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11642676	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11645581	0.88[EUR][1000 genomes]
rs11646130	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11862806	0.85[EUR][1000 genomes]
rs11863150	0.89[EUR][1000 genomes]
rs12446288	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12447833	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12921440	0.90[ASN][1000 genomes]
rs12930787	0.86[EUR][1000 genomes]
rs13333093	0.90[ASN][1000 genomes]
rs35480350	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3574	0.90[ASN][1000 genomes]
rs4465620	0.81[EUR][1000 genomes]
rs4787642	0.90[EUR][1000 genomes]
rs4787643	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4788409	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4788410	0.80[EUR][1000 genomes]
rs4788411	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4788413	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4788414	0.85[EUR][1000 genomes]
rs6565180	0.85[EUR][1000 genomes]
rs6565182	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6565183	0.88[EUR][1000 genomes]
rs68051857	0.86[EUR][1000 genomes]
rs7203359	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73532600	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8046445	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8049108	0.88[EUR][1000 genomes]
rs8060853	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9888967	0.90[ASN][1000 genomes]
rs9921711	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065915	chr16:29967090-30486120	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
2	nsv542897	chr16:29967090-30486120	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
3	nsv1056897	chr16:30363683-30457504	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	88 gene(s)	inside rSNPs	diseases
4	nsv905724	chr16:30368591-30438930	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
5	nsv532531	chr16:30370550-30581820	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
6	nsv827612	chr16:30371538-30429862	Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
7	nsv905725	chr16:30376959-30420851	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
8	nsv962197	chr16:30390489-30425618	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
9	nsv1782	chr16:30391812-30410266	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs62055459	BOLA2///LOC440354///LOC595101	N/A	lymphoblastoid	RTeQTL
rs62055459	IMAA///LOC440345///LOC440354///LOC595101///	N/A	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30390800-30405600	Weak transcription	Right Atrium	heart
2	chr16:30391000-30405000	Weak transcription	NHLF	lung
3	chr16:30391000-30405200	Weak transcription	Fetal Brain Female	brain
4	chr16:30391000-30405400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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