Variant report

Variant	rs12791451
Chromosome Location	chr11:86475042-86475043
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	chr11:86472552..86476130-chr11:86481757..86485497,4	MCF-7	breast:
2	chr11:86474930..86477199-chr11:86478962..86481017,2	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10501629	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10898531	1.00[CHB][hapmap];0.80[MEX][hapmap]
rs10898535	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11234753	1.00[CHB][hapmap]
rs11234765	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.80[MEX][hapmap]
rs11234767	1.00[CHB][hapmap]
rs11234768	1.00[CHB][hapmap]
rs11234769	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234776	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234777	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234778	0.88[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234785	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234798	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234799	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234800	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234804	1.00[CHD][hapmap]
rs11234806	1.00[CHB][hapmap]
rs11234818	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11602353	0.89[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604205	1.00[ASN][1000 genomes]
rs11605575	1.00[ASN][1000 genomes]
rs11605608	1.00[ASN][1000 genomes]
rs11606102	1.00[ASN][1000 genomes]
rs11607392	1.00[CHB][hapmap]
rs11608167	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs12360547	1.00[CHB][hapmap]
rs12362635	0.85[AMR][1000 genomes]
rs12362740	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12365944	0.89[CEU][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12786875	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs12787853	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs12791740	1.00[CHB][hapmap]
rs12793595	1.00[CHB][hapmap]
rs12798749	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12805405	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs12807796	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159941	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs17758195	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.82[TSI][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17758206	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs17758334	0.89[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17758376	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs17758400	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs17820139	0.88[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1815753	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2000538	1.00[CHB][hapmap]
rs2011913	1.00[ASN][1000 genomes]
rs2105587	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs34963582	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35666652	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35781069	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4307742	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57857339	1.00[ASN][1000 genomes]
rs58399373	1.00[ASN][1000 genomes]
rs6592313	1.00[CHB][hapmap]
rs6592314	1.00[CHB][hapmap]
rs66672297	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66827623	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67313042	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67588995	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67761566	1.00[ASN][1000 genomes]
rs67939314	1.00[ASN][1000 genomes]
rs7105597	1.00[CHB][hapmap];0.87[GIH][hapmap];1.00[MKK][hapmap]
rs7128682	1.00[CHB][hapmap]
rs7128805	0.89[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71465659	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967468	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967500	1.00[ASN][1000 genomes]
rs72969403	1.00[ASN][1000 genomes]
rs72969405	1.00[ASN][1000 genomes]
rs72969407	1.00[ASN][1000 genomes]
rs72969411	1.00[ASN][1000 genomes]
rs72969419	1.00[ASN][1000 genomes]
rs72969422	1.00[ASN][1000 genomes]
rs72969425	1.00[ASN][1000 genomes]
rs72969430	1.00[ASN][1000 genomes]
rs72969432	1.00[ASN][1000 genomes]
rs72969443	1.00[ASN][1000 genomes]
rs72969477	1.00[ASN][1000 genomes]
rs7934478	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv428263	chr11:86357990-86508480	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1049157	chr11:86409059-86504155	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv521505	chr11:86438115-86515072	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv468775	chr11:86453415-86480716	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv555705	chr11:86453415-86480716	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	esv2756074	chr11:86456552-86729552	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12791451	CCDC89	cis	parietal	SCAN
rs12791451	TYR	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86456600-86478000	Weak transcription	Aorta	Aorta
2	chr11:86461400-86479600	Weak transcription	Psoas Muscle	Psoas
3	chr11:86473200-86475200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:86473600-86480200	Weak transcription	A549	lung
5	chr11:86473800-86475800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:86473800-86476200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:86473800-86479600	Weak transcription	Left Ventricle	heart
8	chr11:86473800-86480000	Weak transcription	HSMMtube	muscle
9	chr11:86473800-86480200	Weak transcription	Hela-S3	cervix
10	chr11:86473800-86480200	Weak transcription	Osteobl	bone
11	chr11:86474200-86475600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:86474400-86479600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:86474400-86480200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:86474600-86479400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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