Variant report

Variant	rs1875596
Chromosome Location	chr14:79541393-79541394
allele	A/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	chr14:79540637-79541435	SK-N-SH	brain:	n/a	chr14:79541171-79541181 chr14:79541169-79541178
2	GATA3	chr14:79540661-79541452	SK-N-SH	brain:	n/a	chr14:79541171-79541181 chr14:79541169-79541178

Variant related genes	Relation type
ENSG00000258829	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10133681	1.00[AMR][1000 genomes]
rs10134650	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10138639	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10139370	0.92[ASN][1000 genomes]
rs10139445	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11622043	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11845522	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12432509	1.00[AMR][1000 genomes]
rs12893811	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1532727	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1875597	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2062743	0.85[EUR][1000 genomes]
rs2062745	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2088965	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2102170	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2202169	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2202170	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2202173	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2202174	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2202176	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2202177	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2202178	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2202181	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2221299	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2221300	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2370896	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2653539	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4141948	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4243661	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4243662	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4542593	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4635270	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4903815	0.85[EUR][1000 genomes]
rs4903826	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4903827	0.92[ASN][1000 genomes]
rs4903831	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5023075	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6574479	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6574481	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6574484	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6574485	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6574488	0.92[ASN][1000 genomes]
rs6574489	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6574490	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7143117	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7144999	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7145587	0.92[ASN][1000 genomes]
rs7156110	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8005119	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8011782	0.85[EUR][1000 genomes]
rs8021865	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79540800-79541400	Enhancers	Pancreas	Pancrea
2	chr14:79540800-79543800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr14:79541000-79541400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr14:79541200-79541800	Weak transcription	Colon Smooth Muscle	Colon
5	chr14:79541200-79543200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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