Variant report

Variant	rs2267872
Chromosome Location	chr14:80673673-80673674
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr14:80673305-80673754	HUVEC	blood vessel:	n/a	chr14:80673393-80673404

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:80673251..80675895-chr14:80676425..80678713,2	MCF-7	breast:

Variant related genes	Relation type
DIO2-AS1	TF binding region
ENSG00000211448	Chromatin interaction
ENSG00000258766	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10133463	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10140980	1.00[CEU][hapmap];0.88[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10144099	1.00[CEU][hapmap];0.88[JPT][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10146631	0.80[EUR][1000 genomes]
rs10149251	0.80[EUR][1000 genomes]
rs10150064	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10483947	0.87[EUR][1000 genomes]
rs1388378	1.00[CEU][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs170407	0.82[EUR][1000 genomes]
rs170408	0.81[EUR][1000 genomes]
rs17110449	1.00[CEU][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17110492	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17110521	0.88[EUR][1000 genomes]
rs1907526	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1955625	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2160354	0.92[EUR][1000 genomes]
rs2160355	0.88[EUR][1000 genomes]
rs224969	0.84[EUR][1000 genomes]
rs224997	0.82[EUR][1000 genomes]
rs224999	0.82[EUR][1000 genomes]
rs225001	0.82[EUR][1000 genomes]
rs225003	0.82[EUR][1000 genomes]
rs225004	0.82[EUR][1000 genomes]
rs2267873	0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs2295138	0.90[EUR][1000 genomes]
rs28607034	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28883971	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs54566	0.83[EUR][1000 genomes]
rs55884286	0.90[EUR][1000 genomes]
rs56033314	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61989398	0.89[EUR][1000 genomes]
rs6574551	1.00[CEU][hapmap];0.89[CHD][hapmap];0.82[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7140952	1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7145153	1.00[CEU][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7145584	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7146189	1.00[CEU][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7152836	0.83[EUR][1000 genomes]
rs7154177	1.00[CEU][hapmap];0.83[JPT][hapmap]
rs7154898	1.00[CEU][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7159642	1.00[CEU][hapmap];0.88[JPT][hapmap]
rs7160310	1.00[CEU][hapmap]
rs7350729	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8003183	0.92[EUR][1000 genomes]
rs8009555	1.00[CEU][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8011716	0.92[EUR][1000 genomes]
rs9652301	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9972105	1.00[CEU][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9972275	1.00[CEU][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv902113	chr14:80172094-80929699	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80664800-80677400	Weak transcription	Esophagus	oesophagus
2	chr14:80665600-80677200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr14:80665800-80674000	Weak transcription	Brain Angular Gyrus	brain
4	chr14:80669800-80674800	Weak transcription	Hela-S3	cervix
5	chr14:80672800-80674000	Enhancers	Brain Hippocampus Middle	brain
6	chr14:80672800-80674600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr14:80673000-80674400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:80673200-80673800	Genic enhancers	A549	lung
9	chr14:80673200-80674400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:80673400-80678400	Weak transcription	Brain Germinal Matrix	brain

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