Variant report

Variant	rs1461719
Chromosome Location	chr18:39847984-39847985
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	GATA3	chr18:39847664-39847993	SH-SY5Y	brain:	n/a	chr18:39847819-39847840 chr18:39847821-39847837 chr18:39847824-39847833 chr18:39847826-39847833 chr18:39847824-39847834 chr18:39847937-39847946

Variant related genes	Relation type
RNA5SP454	TF binding region

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

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1026595	0.92[ASN][1000 genomes]
rs1026596	0.92[ASN][1000 genomes]
rs10502780	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11082268	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12455999	0.94[EUR][1000 genomes]
rs12457855	0.92[ASN][1000 genomes]
rs12457879	0.92[ASN][1000 genomes]
rs12457881	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12605925	0.92[ASN][1000 genomes]
rs12956046	0.92[ASN][1000 genomes]
rs12967041	0.92[ASN][1000 genomes]
rs12967873	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1381349	1.00[ASN][1000 genomes]
rs1461715	0.92[ASN][1000 genomes]
rs1461717	0.92[ASN][1000 genomes]
rs1461718	0.86[ASN][1000 genomes]
rs1461721	1.00[ASN][1000 genomes]
rs1461723	0.92[EUR][1000 genomes]
rs1599478	0.88[EUR][1000 genomes]
rs1870781	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1870782	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1870783	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1870785	0.92[ASN][1000 genomes]
rs2219638	1.00[ASN][1000 genomes]
rs2335779	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34703522	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35073620	1.00[ASN][1000 genomes]
rs35250842	0.93[ASN][1000 genomes]
rs35959504	1.00[ASN][1000 genomes]
rs4890391	0.92[ASN][1000 genomes]
rs4890393	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4890394	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4890395	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62082201	1.00[ASN][1000 genomes]
rs6507469	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7228003	0.90[EUR][1000 genomes]
rs7235905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7236024	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7238496	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7241462	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs8085350	0.92[ASN][1000 genomes]
rs8085753	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8089080	0.93[EUR][1000 genomes]
rs8089100	0.85[ASN][1000 genomes]
rs882289	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs882290	0.92[ASN][1000 genomes]
rs882291	0.92[ASN][1000 genomes]
rs898785	0.92[ASN][1000 genomes]
rs898786	0.92[ASN][1000 genomes]
rs898790	0.92[ASN][1000 genomes]
rs898791	0.92[ASN][1000 genomes]
rs898792	0.92[ASN][1000 genomes]
rs898793	0.92[ASN][1000 genomes]
rs898794	0.92[ASN][1000 genomes]
rs9304268	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949609	chr18:39126941-40070286	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv34153	chr18:39398768-39872265	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1059409	chr18:39711099-40139446	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1063343	chr18:39760943-39898498	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
5	nsv1059553	chr18:39828781-39872695	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39840600-39854400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr18:39846800-39849000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr18:39847800-39848000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr18:39847800-39854800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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