Variant report

Variant	rs259831
Chromosome Location	chr2:180704878-180704879
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	chr2:180704558..180706677-chr2:180713016..180714537,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10930887	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12328338	0.97[ASN][1000 genomes]
rs1352111	0.92[EUR][1000 genomes]
rs1383413	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1383414	0.82[EUR][1000 genomes]
rs1486233	0.97[ASN][1000 genomes]
rs165373	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs165374	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs165379	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs165380	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs165381	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16867045	0.89[ASN][1000 genomes]
rs187745	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs194674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2170240	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2219670	0.97[ASN][1000 genomes]
rs2367797	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs259833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259849	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2630539	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28520865	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs357711	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs357712	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56152328	0.90[ASN][1000 genomes]
rs6433810	0.85[ASN][1000 genomes]
rs6433811	0.89[ASN][1000 genomes]
rs6725456	0.82[EUR][1000 genomes]
rs6752731	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7557122	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7597666	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]

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	nsv1002305	chr2:180568558-180812846	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv428731	chr2:180629389-180805171	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv875472	chr2:180696414-181024926	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv875473	chr2:180696414-181055597	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180703200-180706400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:180703400-180707400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:180704400-180705800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr2:180704600-180706200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:180704600-180706200	Weak transcription	Fetal Heart	heart

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