Variant report

Variant	rs2043377
Chromosome Location	chr8:122095725-122095726
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:122090628..122093361-chr8:122095626..122097961,2	MCF-7	breast:
2	chr8:122091419..122093769-chr8:122094508..122097465,3	K562	blood:
3	chr8:122077895..122079744-chr8:122094712..122097202,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs12676933	0.96[ASN][1000 genomes]
rs12678662	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12680902	0.90[ASN][1000 genomes]
rs12681516	0.96[ASN][1000 genomes]
rs1347231	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1368603	0.96[ASN][1000 genomes]
rs1433397	0.90[ASN][1000 genomes]
rs1594741	0.89[EUR][1000 genomes]
rs1594742	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1594743	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1631099	0.90[ASN][1000 genomes]
rs16894516	0.90[ASN][1000 genomes]
rs16894530	0.90[ASN][1000 genomes]
rs16894534	0.90[ASN][1000 genomes]
rs1714642	0.89[ASN][1000 genomes]
rs1714653	0.90[ASN][1000 genomes]
rs1812421	0.96[ASN][1000 genomes]
rs1865180	0.90[ASN][1000 genomes]
rs2043373	0.94[ASN][1000 genomes]
rs2068952	0.96[ASN][1000 genomes]
rs2117063	0.96[ASN][1000 genomes]
rs2117064	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2163922	0.96[ASN][1000 genomes]
rs4870757	0.89[EUR][1000 genomes]
rs4871152	0.96[ASN][1000 genomes]
rs4871154	0.96[ASN][1000 genomes]
rs4871155	0.96[ASN][1000 genomes]
rs4871156	0.96[ASN][1000 genomes]
rs4871157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4871158	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4871159	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6469984	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6469985	0.96[ASN][1000 genomes]
rs6469986	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6469987	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6982541	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7003498	0.96[ASN][1000 genomes]
rs7007419	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7012535	0.96[ASN][1000 genomes]
rs73315279	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73317195	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73318915	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73318932	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs961427	0.96[ASN][1000 genomes]
rs961428	0.96[ASN][1000 genomes]
rs9774583	0.92[ASN][1000 genomes]
rs9969592	0.90[ASN][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	nsv465790	chr8:121853405-122185415	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv612114	chr8:121853405-122185415	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv891424	chr8:121873345-122393258	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv1844734	chr8:121928250-122283585	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3330574	chr8:122039099-122386130	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv891426	chr8:122078334-122393258	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122095600-122095800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:122095600-122096200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:122095600-122096200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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