Variant report

Variant	rs72980861
Chromosome Location	chr2:127736786-127736787
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	chr2:127734864..127736973-chr2:127738271..127740388,2	MCF-7	breast:
2	chr2:127728843..127730664-chr2:127736005..127737630,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10803617	1.00[EUR][1000 genomes]
rs12620265	1.00[EUR][1000 genomes]
rs1545149	1.00[ASN][1000 genomes]
rs1553844	1.00[EUR][1000 genomes]
rs1912498	1.00[EUR][1000 genomes]
rs4662698	1.00[EUR][1000 genomes]
rs4662699	1.00[EUR][1000 genomes]
rs4663070	1.00[EUR][1000 genomes]
rs56086835	0.81[ASN][1000 genomes]
rs6431201	1.00[EUR][1000 genomes]
rs6431206	1.00[EUR][1000 genomes]
rs6431207	1.00[EUR][1000 genomes]
rs6431208	1.00[EUR][1000 genomes]
rs6753685	1.00[EUR][1000 genomes]
rs72976756	1.00[EUR][1000 genomes]
rs72980853	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72980858	1.00[ASN][1000 genomes]
rs73952788	1.00[EUR][1000 genomes]
rs73952789	1.00[EUR][1000 genomes]
rs7420039	1.00[EUR][1000 genomes]
rs7424763	1.00[EUR][1000 genomes]
rs7565248	1.00[EUR][1000 genomes]
rs870468	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999422	chr2:127464647-127956543	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1004930	chr2:127477369-127938234	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv834365	chr2:127616996-127793863	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats 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
4	nsv834366	chr2:127633714-127784692	Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv583031	chr2:127732462-127758448	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127733600-127737000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:127733800-127739000	Weak transcription	Fetal Lung	lung
3	chr2:127734400-127739000	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:127735600-127737600	Enhancers	Brain Angular Gyrus	brain
5	chr2:127735600-127738000	Enhancers	Brain Anterior Caudate	brain
6	chr2:127735600-127738000	Enhancers	Brain Hippocampus Middle	brain
7	chr2:127736000-127737600	Weak transcription	HepG2	liver
8	chr2:127736200-127736800	Enhancers	Brain Substantia Nigra	brain
9	chr2:127736400-127737200	Enhancers	Brain Cingulate Gyrus	brain
10	chr2:127736400-127738000	Enhancers	Brain Inferior Temporal Lobe	brain

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