Variant report

Variant	rs12654313
Chromosome Location	chr5:126552280-126552281
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	chr5:126551353..126555080-chr5:126562257..126566254,3	MCF-7	breast:
2	chr5:126551276..126553458-chr5:126563225..126565412,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10519919	0.91[EUR][1000 genomes]
rs10519922	0.91[EUR][1000 genomes]
rs10519923	0.91[EUR][1000 genomes]
rs10519949	1.00[CEU][hapmap]
rs12518420	0.91[EUR][1000 genomes]
rs12651864	0.91[EUR][1000 genomes]
rs12652019	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12652963	1.00[CEU][hapmap]
rs12652982	1.00[CEU][hapmap]
rs12653000	1.00[YRI][hapmap];0.91[EUR][1000 genomes]
rs12653273	0.91[EUR][1000 genomes]
rs12653290	0.91[EUR][1000 genomes]
rs12654455	1.00[CEU][hapmap]
rs12655006	0.91[EUR][1000 genomes]
rs12655199	0.91[EUR][1000 genomes]
rs12655605	0.91[EUR][1000 genomes]
rs12655726	0.91[EUR][1000 genomes]
rs12655913	1.00[CEU][hapmap]
rs12655928	1.00[YRI][hapmap];0.91[EUR][1000 genomes]
rs12655952	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12656236	0.91[EUR][1000 genomes]
rs12656537	1.00[YRI][hapmap];0.91[EUR][1000 genomes]
rs12658821	0.91[EUR][1000 genomes]
rs12659381	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12659424	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs12659607	0.91[EUR][1000 genomes]
rs12659614	1.00[YRI][hapmap];0.91[EUR][1000 genomes]
rs12659633	0.91[EUR][1000 genomes]
rs17165192	0.91[EUR][1000 genomes]
rs17165194	0.91[EUR][1000 genomes]
rs17165211	0.91[EUR][1000 genomes]
rs17165228	1.00[YRI][hapmap];0.91[EUR][1000 genomes]
rs17165234	0.91[EUR][1000 genomes]
rs17165239	0.91[EUR][1000 genomes]
rs17165249	1.00[YRI][hapmap];0.91[EUR][1000 genomes]
rs17684438	1.00[CEU][hapmap]
rs17684525	1.00[CEU][hapmap]
rs17762544	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17762857	1.00[CEU][hapmap]
rs17762863	1.00[CEU][hapmap]
rs17839701	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17839703	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs35627668	0.91[EUR][1000 genomes]
rs3812058	1.00[CEU][hapmap]
rs3812059	1.00[CEU][hapmap]
rs4141169	0.91[EUR][1000 genomes]
rs55638823	0.91[EUR][1000 genomes]
rs56124224	0.91[EUR][1000 genomes]
rs56171951	0.83[EUR][1000 genomes]
rs57164852	0.91[EUR][1000 genomes]
rs58011598	0.91[EUR][1000 genomes]
rs58047377	0.91[EUR][1000 genomes]
rs58164143	0.91[EUR][1000 genomes]
rs58727001	0.91[EUR][1000 genomes]
rs59871357	0.91[EUR][1000 genomes]
rs60138783	0.91[EUR][1000 genomes]
rs61258380	0.91[EUR][1000 genomes]
rs6862045	1.00[CEU][hapmap]
rs6872893	0.91[EUR][1000 genomes]
rs6877692	0.91[EUR][1000 genomes]
rs6882025	0.91[EUR][1000 genomes]
rs6883181	0.91[EUR][1000 genomes]
rs6888532	0.91[EUR][1000 genomes]
rs6893763	0.91[EUR][1000 genomes]
rs6899030	0.91[EUR][1000 genomes]
rs73783506	0.91[EUR][1000 genomes]
rs73783507	0.91[EUR][1000 genomes]
rs73785535	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73785536	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73785537	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73785546	0.91[EUR][1000 genomes]
rs73785547	0.91[EUR][1000 genomes]
rs73785555	0.91[EUR][1000 genomes]
rs73785556	0.91[EUR][1000 genomes]
rs73785558	0.91[EUR][1000 genomes]
rs7712445	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7723558	0.91[EUR][1000 genomes]
rs7728190	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs9918233	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126551800-126553800	Enhancers	HSMMtube	muscle
2	chr5:126551800-126554000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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