Variant report

Variant	rs12146944
Chromosome Location	chr13:53326437-53326438
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	chr13:53326030..53328350-chr13:53329940..53332894,2	K562	blood:
2	chr13:53325145..53327958-chr13:53329012..53331783,2	MCF-7	breast:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs11148262	1.00[JPT][hapmap]
rs1436724	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1436728	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1812735	0.83[AFR][1000 genomes]
rs1925135	1.00[JPT][hapmap]
rs2118093	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2760780	1.00[JPT][hapmap]
rs342774	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs342777	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs3931491	1.00[JPT][hapmap]
rs4539485	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4542538	1.00[JPT][hapmap]
rs4884223	1.00[JPT][hapmap]
rs4885804	1.00[JPT][hapmap]
rs4885887	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4885910	1.00[JPT][hapmap]
rs4885948	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs617660	1.00[JPT][hapmap]
rs61958693	1.00[ASN][1000 genomes]
rs61958694	1.00[ASN][1000 genomes]
rs61961162	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61961163	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs630892	1.00[JPT][hapmap]
rs646498	1.00[JPT][hapmap]
rs6561673	1.00[JPT][hapmap]
rs6561676	1.00[JPT][hapmap]
rs6561677	1.00[JPT][hapmap]
rs6561684	1.00[JPT][hapmap]
rs6561685	1.00[JPT][hapmap]
rs6561686	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs676306	1.00[JPT][hapmap]
rs693991	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7319451	1.00[CHD][hapmap]
rs7325840	1.00[JPT][hapmap]
rs7330193	1.00[JPT][hapmap]
rs7330361	1.00[JPT][hapmap]
rs7335270	1.00[JPT][hapmap]
rs7987405	1.00[JPT][hapmap]
rs7995188	1.00[JPT][hapmap]
rs7996692	1.00[JPT][hapmap]
rs7999466	1.00[JPT][hapmap]
rs8000715	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs9316581	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs9316583	1.00[JPT][hapmap]
rs9526957	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs9526958	1.00[JPT][hapmap]
rs9526966	1.00[JPT][hapmap]
rs9526970	1.00[JPT][hapmap]
rs9526976	1.00[JPT][hapmap]
rs9526978	1.00[JPT][hapmap]
rs9526986	1.00[JPT][hapmap]
rs9526991	1.00[JPT][hapmap]
rs9526993	1.00[JPT][hapmap]
rs9526997	1.00[JPT][hapmap]
rs9536184	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs9536222	1.00[JPT][hapmap]
rs9536228	1.00[JPT][hapmap]
rs9536232	1.00[JPT][hapmap]
rs9536238	1.00[JPT][hapmap]
rs9536241	1.00[JPT][hapmap]
rs9536244	1.00[JPT][hapmap]
rs9536245	1.00[JPT][hapmap]
rs9536248	1.00[JPT][hapmap]
rs9536249	1.00[JPT][hapmap]
rs9536250	1.00[JPT][hapmap]
rs9536257	1.00[JPT][hapmap]
rs9536259	1.00[JPT][hapmap]
rs9536260	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs9536266	1.00[ASN][1000 genomes]
rs9568747	1.00[JPT][hapmap]
rs971513	1.00[JPT][hapmap]
rs973198	1.00[CHD][hapmap];1.00[JPT][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	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv3440613	chr13:53307609-53671072	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 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	chr13:53324400-53334600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr13:53326400-53328200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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