Variant report

Variant	rs73288980
Chromosome Location	chr12:45367143-45367144
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45356113..45357820-chr12:45366859..45369459,2	K562	blood:
2	chr12:45366332..45368097-chr12:45514780..45516888,12	MCF-7	breast:
3	chr12:45367140..45370350-chr12:45371616..45375145,3	K562	blood:
4	chr12:45366306..45367231-chr12:45516422..45517207,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs2658991	1.00[AMR][1000 genomes]
rs268033	1.00[AMR][1000 genomes]
rs268038	1.00[AMR][1000 genomes]
rs2703036	1.00[AMR][1000 genomes]
rs2703044	1.00[AMR][1000 genomes]
rs2710427	1.00[AMR][1000 genomes]
rs2710432	1.00[AMR][1000 genomes]
rs58109917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58840891	1.00[AMR][1000 genomes]
rs73275512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275524	1.00[AMR][1000 genomes]
rs73275531	1.00[AMR][1000 genomes]
rs73275551	1.00[AMR][1000 genomes]
rs73275596	1.00[AMR][1000 genomes]
rs73277300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279176	1.00[AMR][1000 genomes]
rs73281008	1.00[AMR][1000 genomes]
rs73281095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283039	1.00[AMR][1000 genomes]
rs73287011	1.00[AMR][1000 genomes]
rs73288970	1.00[AMR][1000 genomes]
rs73288973	1.00[AMR][1000 genomes]
rs73288975	1.00[AMR][1000 genomes]
rs73288988	1.00[AMR][1000 genomes]
rs73288990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73288993	1.00[AMR][1000 genomes]
rs73290682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73290685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73290688	1.00[AMR][1000 genomes]
rs73290690	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899049	chr12:45299202-45376053	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv899050	chr12:45299202-45400614	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv899051	chr12:45307633-45376053	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3407092	chr12:45342734-45368068	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv3351644	chr12:45345597-45529449	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1045857	chr12:45351172-45468784	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv541485	chr12:45351172-45468784	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv469365	chr12:45353367-45388817	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv558751	chr12:45353367-45388817	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv469366	chr12:45357804-45386398	Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv558752	chr12:45357804-45386398	Enhancers Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv469367	chr12:45363545-45400614	Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv558753	chr12:45363545-45400614	Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45366800-45367200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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