Variant report

Variant	rs12916255
Chromosome Location	chr15:51189707-51189708
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:51187671..51190054-chr15:51190212..51192849,2	K562	blood:
2	chr15:50649363..50652046-chr15:51189573..51192655,3	MCF-7	breast:
3	chr15:51188372..51190064-chr15:51192876..51195738,3	K562	blood:
4	chr15:51189648..51191735-chr15:51199427..51201147,2	MCF-7	breast:
5	chr15:51176620..51178151-chr15:51189371..51192335,2	K562	blood:
6	chr15:51186902..51189872-chr15:51192876..51194518,2	K562	blood:

Variant related genes	Relation type
ENSG00000081014	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10519289	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11070825	0.94[JPT][hapmap]
rs11634895	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11636974	1.00[JPT][hapmap]
rs11639007	0.80[ASN][1000 genomes]
rs11639350	0.84[ASN][1000 genomes]
rs11853182	0.87[ASN][1000 genomes]
rs11854585	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11856202	0.83[AMR][1000 genomes]
rs11856609	0.87[ASN][1000 genomes]
rs11857981	0.93[JPT][hapmap]
rs12324214	0.84[GIH][hapmap];0.94[JPT][hapmap]
rs12324583	0.94[JPT][hapmap]
rs12441734	0.94[JPT][hapmap]
rs12898402	0.94[JPT][hapmap]
rs12899397	0.82[ASN][1000 genomes]
rs12899586	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12900916	0.82[ASN][1000 genomes]
rs12900973	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12901608	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12902050	0.94[JPT][hapmap]
rs12903317	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12904155	0.94[JPT][hapmap]
rs12906278	0.94[JPT][hapmap]
rs12907367	0.94[JPT][hapmap]
rs12910854	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12911270	0.94[JPT][hapmap]
rs12911715	0.82[ASN][1000 genomes]
rs12913094	0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs1438926	0.81[GIH][hapmap];0.94[JPT][hapmap]
rs16953045	0.84[GIH][hapmap];0.94[JPT][hapmap]
rs16953046	0.82[ASN][1000 genomes]
rs17521467	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs17599863	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs17599974	0.83[GIH][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs1904432	0.84[GIH][hapmap];0.93[JPT][hapmap]
rs1912097	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs2306329	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2306333	0.82[ASN][1000 genomes]
rs28642856	0.80[ASN][1000 genomes]
rs34590712	0.85[ASN][1000 genomes]
rs34810611	0.85[ASN][1000 genomes]
rs35416047	0.85[ASN][1000 genomes]
rs35684604	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35827195	0.87[ASN][1000 genomes]
rs3759806	0.82[ASN][1000 genomes]
rs3816717	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3825799	1.00[JPT][hapmap]
rs3848133	0.84[GIH][hapmap];0.94[JPT][hapmap]
rs3848134	0.94[JPT][hapmap]
rs58661036	0.82[ASN][1000 genomes]
rs6493470	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71471523	0.80[ASN][1000 genomes]
rs71471583	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7162325	0.94[JPT][hapmap]
rs7162562	0.90[ASN][1000 genomes]
rs7162631	0.94[JPT][hapmap]
rs7165920	0.82[ASN][1000 genomes]
rs7170009	0.84[GIH][hapmap];0.94[JPT][hapmap]
rs7170570	0.85[ASN][1000 genomes]
rs7170937	0.84[GIH][hapmap];0.87[JPT][hapmap]
rs7175024	0.94[JPT][hapmap]
rs7179321	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs7179865	0.84[GIH][hapmap];0.94[JPT][hapmap]
rs7181081	0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8026140	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs8032236	0.82[ASN][1000 genomes]
rs8032550	0.85[ASN][1000 genomes]
rs8032866	0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs8033015	0.88[JPT][hapmap]
rs8033085	0.94[JPT][hapmap]
rs8033351	0.94[JPT][hapmap]
rs8034718	0.94[JPT][hapmap]
rs8034812	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8036604	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8038437	0.94[JPT][hapmap]
rs9302158	0.84[GIH][hapmap];0.94[JPT][hapmap]
rs9652426	0.82[ASN][1000 genomes]
rs9806654	0.94[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043805	chr15:50715572-51208891	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv542384	chr15:50715572-51208891	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv1047443	chr15:50744781-51647023	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv457135	chr15:50770868-51189707	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv569397	chr15:50770868-51189707	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv457136	chr15:50789125-51294995	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
7	nsv569398	chr15:50789125-51294995	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
8	nsv1042372	chr15:50846461-51208891	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
9	nsv542386	chr15:50846461-51208891	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
10	nsv569399	chr15:50874964-51562198	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
11	nsv569400	chr15:50874964-51767265	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
12	nsv529339	chr15:51048579-51270372	Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
13	nsv516168	chr15:51114437-51217361	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
14	nsv428636	chr15:51154834-51298044	Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12916255	MYO5A	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51177800-51199200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr15:51177800-51199600	Weak transcription	Ovary	ovary
3	chr15:51179000-51199200	Weak transcription	Brain Angular Gyrus	brain
4	chr15:51183800-51199200	Weak transcription	Brain Substantia Nigra	brain
5	chr15:51185800-51199800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr15:51187200-51199000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr15:51187200-51199200	Weak transcription	Placenta	Placenta
8	chr15:51188400-51199200	Weak transcription	Fetal Lung	lung
9	chr15:51189600-51189800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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