Variant report

Variant	rs8019071
Chromosome Location	chr14:79541178-79541179
allele	C/T
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	GATA3	chr14:79540922-79541312	MCF-7	breast:	n/a	chr14:79541171-79541181 chr14:79541169-79541178
2	SIN3AK20	chr14:79540674-79541378	MCF-7	breast:	n/a	n/a
3	GATA3	chr14:79540832-79541245	MCF-7	breast:	n/a	chr14:79541171-79541181 chr14:79541169-79541178
4	GATA3	chr14:79540975-79541309	SH-SY5Y	brain:	n/a	chr14:79541171-79541181 chr14:79541169-79541178
5	GATA3	chr14:79540637-79541435	SK-N-SH	brain:	n/a	chr14:79541171-79541181 chr14:79541169-79541178
6	GATA3	chr14:79540661-79541452	SK-N-SH	brain:	n/a	chr14:79541171-79541181 chr14:79541169-79541178
7	GATA2	chr14:79540828-79541345	SH-SY5Y	brain:	n/a	chr14:79541171-79541181 chr14:79541169-79541178

Variant related genes	Relation type
ENSG00000258829	TF binding region

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10139452	0.84[EUR][1000 genomes]
rs10139460	0.84[EUR][1000 genomes]
rs10141828	0.92[EUR][1000 genomes]
rs10141996	0.88[EUR][1000 genomes]
rs10142256	0.87[EUR][1000 genomes]
rs10143998	0.97[EUR][1000 genomes]
rs10146180	0.86[EUR][1000 genomes]
rs10147558	0.91[EUR][1000 genomes]
rs10147940	0.87[EUR][1000 genomes]
rs10148388	0.92[EUR][1000 genomes]
rs10150011	0.84[EUR][1000 genomes]
rs10151590	0.84[EUR][1000 genomes]
rs11159391	0.82[ASN][1000 genomes]
rs11159392	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11625343	0.90[EUR][1000 genomes]
rs11627661	0.93[EUR][1000 genomes]
rs11627905	0.84[EUR][1000 genomes]
rs12147468	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12147740	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12323794	0.92[EUR][1000 genomes]
rs12431671	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12432817	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12435865	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12586394	0.88[EUR][1000 genomes]
rs12880287	0.80[EUR][1000 genomes]
rs12881434	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12882464	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12894123	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12897265	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1532728	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1532729	0.80[EUR][1000 genomes]
rs1547533	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1547535	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1566675	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17108558	0.81[EUR][1000 genomes]
rs17108575	0.88[EUR][1000 genomes]
rs1875595	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1995411	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2035284	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2062740	0.84[EUR][1000 genomes]
rs2062741	0.87[EUR][1000 genomes]
rs2062744	0.87[EUR][1000 genomes]
rs2202168	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2202172	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2202175	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2202179	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2202180	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2202183	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2202184	0.99[EUR][1000 genomes]
rs2221297	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2370900	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2370901	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2370902	0.91[EUR][1000 genomes]
rs2620398	0.97[EUR][1000 genomes]
rs28706257	0.91[EUR][1000 genomes]
rs28831381	0.88[EUR][1000 genomes]
rs2887887	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34121288	0.90[EUR][1000 genomes]
rs35916059	0.82[EUR][1000 genomes]
rs4903813	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4903816	0.97[EUR][1000 genomes]
rs4903825	0.93[EUR][1000 genomes]
rs4903830	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4903833	0.92[EUR][1000 genomes]
rs61639937	0.84[EUR][1000 genomes]
rs61992500	0.82[EUR][1000 genomes]
rs6574478	0.97[EUR][1000 genomes]
rs6574480	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6574492	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7149325	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7155818	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7157779	0.90[EUR][1000 genomes]
rs7161610	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72687406	0.84[EUR][1000 genomes]
rs8004582	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8005334	0.92[EUR][1000 genomes]
rs8006615	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8006983	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8007813	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8008393	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8009329	0.81[EUR][1000 genomes]
rs8009417	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8011832	0.86[EUR][1000 genomes]
rs8012099	0.87[EUR][1000 genomes]
rs8013072	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8014314	0.89[EUR][1000 genomes]
rs8016756	0.84[EUR][1000 genomes]
rs8017018	0.83[EUR][1000 genomes]
rs8018180	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8020811	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs872483	0.82[ASN][1000 genomes]
rs874317	0.82[ASN][1000 genomes]
rs9323670	0.87[EUR][1000 genomes]
rs997842	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[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	nsv917249	chr14:79388181-79574717	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1041991	chr14:79394408-79644886	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv931412	chr14:79420297-79928269	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv948724	chr14:79484233-79614043	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv565247	chr14:79508316-79555651	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv2761846	chr14:79522198-79629157	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79540800-79541200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:79540800-79541200	Enhancers	Gastric	stomach
3	chr14:79540800-79541400	Enhancers	Pancreas	Pancrea
4	chr14:79540800-79543800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr14:79541000-79541200	Enhancers	Colon Smooth Muscle	Colon
6	chr14:79541000-79541400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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