Variant report

Variant	rs12148168
Chromosome Location	chr15:50117250-50117251
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	chr15:50115862..50118936-chr15:50156885..50160931,3	MCF-7	breast:
2	chr15:50065517..50067903-chr15:50116591..50118640,2	MCF-7	breast:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1059851	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1059852	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11070723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11630021	0.81[EUR][1000 genomes]
rs11631995	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11632077	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11632116	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11633343	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11633465	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11633470	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11633644	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11633714	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11633744	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11633759	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11634082	0.83[EUR][1000 genomes]
rs11634914	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11636769	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11639332	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12372951	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12901108	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12902979	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12903153	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12903481	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12904017	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12907836	0.81[EUR][1000 genomes]
rs12909447	0.87[EUR][1000 genomes]
rs13329598	0.82[EUR][1000 genomes]
rs17486097	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17486425	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17486446	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17486544	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17486663	0.81[EUR][1000 genomes]
rs1873810	1.00[ASN][1000 genomes]
rs34404202	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34449112	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34561282	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34751824	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34845057	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35827271	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35899336	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35958858	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4275793	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4347574	0.81[EUR][1000 genomes]
rs4494482	0.86[EUR][1000 genomes]
rs4494483	0.86[EUR][1000 genomes]
rs4544192	0.86[EUR][1000 genomes]
rs542526	1.00[ASN][1000 genomes]
rs549739	1.00[ASN][1000 genomes]
rs55967655	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598572	1.00[ASN][1000 genomes]
rs61618346	0.85[EUR][1000 genomes]
rs628853	1.00[ASN][1000 genomes]
rs628868	1.00[ASN][1000 genomes]
rs66809683	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71469605	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72733056	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8023895	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8025533	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8036570	0.85[EUR][1000 genomes]
rs8041979	0.81[EUR][1000 genomes]
rs8042458	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1047047	chr15:50070224-50125096	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1042311	chr15:50083175-50125096	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2761888	chr15:50083187-50125108	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv833003	chr15:50100372-50273309	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50111400-50122200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr15:50115000-50118800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr15:50115600-50118800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr15:50116000-50117400	Enhancers	A549	lung
5	chr15:50116000-50117600	Enhancers	Hela-S3	cervix
6	chr15:50116400-50117600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr15:50116600-50124000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr15:50117200-50117400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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