Variant report

Variant	rs12051481
Chromosome Location	chr16:80478406-80478407
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80477232..80480135-chr16:80480293..80481825,2	MCF-7	breast:
2	chr16:80477484..80480232-chr16:80487404..80489866,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10514496	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10514499	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11150278	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11150279	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11150280	0.84[ASN][1000 genomes]
rs11150281	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11641380	0.84[ASN][1000 genomes]
rs11641604	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12051123	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12325491	0.82[EUR][1000 genomes]
rs12443517	0.82[ASN][1000 genomes]
rs12445767	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12446534	0.85[AFR][1000 genomes]
rs12598715	0.82[ASN][1000 genomes]
rs12599990	0.80[ASN][1000 genomes]
rs12600017	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13380563	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1484029	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16953272	0.80[ASN][1000 genomes]
rs16953274	0.80[ASN][1000 genomes]
rs16953276	0.80[ASN][1000 genomes]
rs16953280	0.81[ASN][1000 genomes]
rs16953281	0.82[ASN][1000 genomes]
rs16953285	0.81[ASN][1000 genomes]
rs16953288	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1825390	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55896457	0.80[ASN][1000 genomes]
rs55958632	0.82[ASN][1000 genomes]
rs62050389	0.88[AFR][1000 genomes]
rs62050390	0.85[AFR][1000 genomes]
rs62050392	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62050396	0.81[ASN][1000 genomes]
rs62050397	0.82[ASN][1000 genomes]
rs62050421	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62050422	0.82[ASN][1000 genomes]
rs62050423	0.82[ASN][1000 genomes]
rs66836864	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7184383	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7190998	0.81[EUR][1000 genomes]
rs7194714	0.82[EUR][1000 genomes]
rs7201931	0.83[ASN][1000 genomes]
rs7204337	0.83[AMR][1000 genomes]
rs8043750	0.81[ASN][1000 genomes]
rs8047032	0.82[ASN][1000 genomes]
rs8052344	0.84[ASN][1000 genomes]
rs8057483	0.80[ASN][1000 genomes]
rs8063777	0.80[ASN][1000 genomes]
rs9972739	0.82[ASN][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	nsv1061068	chr16:80207546-80537052	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv2762333	chr16:80307755-80509983	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv833299	chr16:80341745-80549683	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv907001	chr16:80405292-80620611	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv510692	chr16:80432497-80503607	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1055975	chr16:80437861-80513030	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv907002	chr16:80441420-80510943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv2751614	chr16:80459551-80511649	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv833300	chr16:80475066-80601036	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12051481	DYNLRB2	cis	parietal	SCAN
rs12051481	BCAR1	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80477000-80481200	Weak transcription	Fetal Lung	lung
2	chr16:80478200-80481200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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