Variant report

Variant	rs12151481
Chromosome Location	chr2:213111238-213111239
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:213110335..213112278-chr2:213114371..213115906,2	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10187913	0.90[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10200047	0.90[CEU][hapmap];1.00[CHD][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497961	1.00[CHD][hapmap]
rs10497962	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs10497966	0.90[CEU][hapmap];1.00[CHD][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10932426	0.80[CEU][hapmap]
rs11885830	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12151478	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13389250	1.00[ASN][1000 genomes]
rs13426487	0.84[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1394791	1.00[CHD][hapmap]
rs1402770	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1505367	1.00[CHD][hapmap]
rs16848108	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs16848124	1.00[ASN][1000 genomes]
rs17344929	1.00[CHD][hapmap]
rs17345976	0.85[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17346615	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs17417113	1.00[CHD][hapmap]
rs17417904	0.84[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17417981	0.90[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17418016	0.89[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17418292	0.84[CEU][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs17432343	1.00[CHD][hapmap]
rs1915744	1.00[ASN][1000 genomes]
rs1915745	1.00[ASN][1000 genomes]
rs2204070	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs28539084	1.00[ASN][1000 genomes]
rs55786007	1.00[ASN][1000 genomes]
rs56388911	1.00[ASN][1000 genomes]
rs56395249	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56815773	1.00[ASN][1000 genomes]
rs62182606	1.00[ASN][1000 genomes]
rs62182607	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182608	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182609	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182610	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182611	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182612	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182616	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182618	1.00[ASN][1000 genomes]
rs62182619	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182621	1.00[ASN][1000 genomes]
rs62182622	1.00[ASN][1000 genomes]
rs62182623	1.00[ASN][1000 genomes]
rs6731885	1.00[ASN][1000 genomes]
rs6757140	1.00[CHD][hapmap]
rs73062443	1.00[ASN][1000 genomes]
rs7587246	0.95[CEU][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011572	chr2:212840066-213152279	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv875805	chr2:212891401-213164837	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv875806	chr2:212997024-213211067	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1001718	chr2:213047033-213155985	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1004823	chr2:213052804-213181263	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv536138	chr2:213052804-213181263	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1006051	chr2:213052804-213273642	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv584346	chr2:213067749-213258622	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv998615	chr2:213081893-213202228	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	nsv536139	chr2:213081893-213202228	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	nsv1007853	chr2:213087904-213134413	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12151481	LANCL1	cis	parietal	SCAN
rs12151481	UNC80	cis	cerebellum	SCAN
rs12151481	BARD1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213107800-213134000	Weak transcription	Aorta	Aorta
2	chr2:213110400-213111400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:213111200-213113600	Weak transcription	Fetal Heart	heart

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