Variant report

Variant	rs12055520
Chromosome Location	chr6:54051830-54051831
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs12174563	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12176530	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1280858	1.00[ASN][1000 genomes]
rs1298143	1.00[JPT][hapmap]
rs3957360	1.00[JPT][hapmap]
rs526232	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6939568	1.00[JPT][hapmap]
rs72961912	1.00[ASN][1000 genomes]
rs73741447	1.00[ASN][1000 genomes]
rs9349697	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9349701	1.00[JPT][hapmap]
rs9357789	1.00[CHB][hapmap]
rs9357790	1.00[CHB][hapmap]
rs9357792	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9367552	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9367557	1.00[JPT][hapmap]
rs9370263	1.00[CHB][hapmap]
rs9370264	1.00[CHB][hapmap]
rs9370265	1.00[ASN][1000 genomes]
rs9370266	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9370267	1.00[CHB][hapmap]
rs9370271	1.00[CHB][hapmap]
rs9370272	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9370273	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9370275	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9382286	1.00[CHB][hapmap]
rs9382287	1.00[CHB][hapmap]
rs9382293	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9382294	1.00[ASN][1000 genomes]
rs9382295	1.00[ASN][1000 genomes]
rs9382296	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9382297	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9382298	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9382299	1.00[ASN][1000 genomes]
rs9382310	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9395903	1.00[CHB][hapmap]
rs9395906	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9395907	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9395909	1.00[CHB][hapmap]
rs9395912	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9395913	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9395932	1.00[JPT][hapmap]
rs9464019	1.00[CHB][hapmap]
rs9474735	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067663	chr6:53796341-54449718	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529158	chr6:53796341-54449718	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv603110	chr6:53885918-54103794	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1017633	chr6:53935336-54118476	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53998000-54099200	Weak transcription	Psoas Muscle	Psoas
2	chr6:54045800-54069200	Weak transcription	Fetal Heart	heart
3	chr6:54047200-54069600	Weak transcription	Right Ventricle	heart
4	chr6:54047400-54069600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr6:54051600-54053600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:54051800-54057800	Weak transcription	Left Ventricle	heart

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