Variant report

Variant	rs1388378
Chromosome Location	chr14:80674972-80674973
allele	A/C
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	FOS	chr14:80674926-80675039	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr14:80674752-80675001	MCF10A-Er-Src	breast:	n/a	chr14:80674828-80674839 chr14:80674915-80674926
3	USF2	chr14:80674718-80675070	Hela-S3	cervix:	n/a	chr14:80674891-80674902
4	MAX	chr14:80674755-80675122	Hela-S3	cervix:	n/a	n/a
5	MXI1	chr14:80674717-80675131	Hela-S3	cervix:	n/a	n/a
6	STAT3	chr14:80674764-80675187	Hela-S3	cervix:	n/a	chr14:80674828-80674839 chr14:80674915-80674926
7	CEBPB	chr14:80674773-80675616	Hela-S3	cervix:	n/a	chr14:80675443-80675454 chr14:80674970-80674983
8	SIN3AK20	chr14:80674759-80674976	PFSK-1	brain:	n/a	n/a
9	CEBPB	chr14:80674873-80675564	A549	lung:	n/a	chr14:80675443-80675454 chr14:80674970-80674983
10	STAT3	chr14:80674683-80675066	MCF10A-Er-Src	breast:	n/a	chr14:80674828-80674839 chr14:80674915-80674926
11	USF1	chr14:80674754-80675028	A549	lung:	n/a	n/a
12	GTF2F1	chr14:80674863-80675224	Hela-S3	cervix:	n/a	n/a
13	EP300	chr14:80674783-80675196	Hela-S3	cervix:	n/a	chr14:80674968-80674982
14	RCOR1	chr14:80674850-80675065	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr14:80674775-80675637	PFSK-1	brain:	n/a	n/a
16	STAT3	chr14:80674776-80675098	MCF10A-Er-Src	breast:	n/a	chr14:80674828-80674839 chr14:80674915-80674926
17	CHD2	chr14:80674849-80675076	Hela-S3	cervix:	n/a	n/a
18	MAFK	chr14:80674841-80675123	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr14:80674827-80675695	A549	lung:	n/a	chr14:80675443-80675454 chr14:80674970-80674983
20	SMC3	chr14:80674920-80675175	Hela-S3	cervix:	n/a	n/a
21	FOS	chr14:80674898-80674997	MCF10A-Er-Src	breast:	n/a	n/a
22	RAD21	chr14:80674820-80675157	Hela-S3	cervix:	n/a	n/a

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
ENSG00000258766	Chromatin interaction
ENSG00000211448	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10131076	0.88[ASN][1000 genomes]
rs10133463	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10140980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10144099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10146631	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10149251	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10150064	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10150190	0.89[ASN][1000 genomes]
rs10483947	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11159454	0.89[ASN][1000 genomes]
rs11851891	0.89[ASN][1000 genomes]
rs170407	0.83[EUR][1000 genomes]
rs170408	0.82[EUR][1000 genomes]
rs17110449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110492	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17110521	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1884071	0.91[ASN][1000 genomes]
rs1907526	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1955625	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2160354	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2160355	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs224969	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs224997	0.83[EUR][1000 genomes]
rs224999	0.83[EUR][1000 genomes]
rs225001	0.83[EUR][1000 genomes]
rs225003	0.83[EUR][1000 genomes]
rs225004	0.83[EUR][1000 genomes]
rs2267872	1.00[CEU][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2267873	0.85[EUR][1000 genomes]
rs2273173	0.90[ASN][1000 genomes]
rs2295138	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28607034	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28883971	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs54566	0.85[EUR][1000 genomes]
rs55859799	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55884286	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56033314	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61989398	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6574551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7140952	1.00[CEU][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7141617	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7145153	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145584	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7146189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7152836	0.85[EUR][1000 genomes]
rs7154177	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs7154898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7159642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7159995	0.89[ASN][1000 genomes]
rs7160310	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs7350729	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003183	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8009555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8011716	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9652301	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9972105	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9972275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv534191	chr14:80674955-80736720	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 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	chr14:80673400-80678400	Weak transcription	Brain Germinal Matrix	brain
4	chr14:80674000-80676400	Weak transcription	Brain Hippocampus Middle	brain
5	chr14:80674400-80675000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:80674400-80675400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr14:80674800-80675400	Flanking Active TSS	A549	lung
8	chr14:80674800-80675400	Enhancers	Hela-S3	cervix
9	chr14:80674800-80676200	Weak transcription	Brain Angular Gyrus	brain

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