Variant report

Variant	rs7259717
Chromosome Location	chr19:38035432-38035433
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38027296..38029618-chr19:38032847..38035572,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10153500	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10424047	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11083424	0.82[AMR][1000 genomes]
rs11878261	0.81[EUR][1000 genomes]
rs11879149	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11880056	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11880604	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11883255	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34206817	1.00[EUR][1000 genomes]
rs34743484	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs45505797	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56075341	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56264690	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56281742	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57504517	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57725815	0.93[EUR][1000 genomes]
rs57867853	1.00[EUR][1000 genomes]
rs59966837	1.00[EUR][1000 genomes]
rs60686304	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62108260	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62108262	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62108289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62108290	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62108292	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62108293	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62108297	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62108348	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62108354	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62110178	1.00[EUR][1000 genomes]
rs62110183	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62110185	0.93[EUR][1000 genomes]
rs62110186	0.93[EUR][1000 genomes]
rs62110187	0.84[EUR][1000 genomes]
rs62111488	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62111490	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7245981	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7247175	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7258992	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7259029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7259321	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs73930999	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73932929	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73932955	0.90[EUR][1000 genomes]
rs8101991	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8102189	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8104124	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8104747	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8108261	0.97[AMR][1000 genomes];1.00[EUR][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	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv833819	chr19:37899501-38051599	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv2478	chr19:38025340-38043818	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 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	chr19:38022200-38037000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
2	chr19:38029800-38042000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr19:38030400-38037800	Weak transcription	Fetal Heart	heart
4	chr19:38032400-38080800	ZNF genes & repeats	Liver	Liver
5	chr19:38032600-38075200	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr19:38034200-38036200	ZNF genes & repeats	Left Ventricle	heart
7	chr19:38034800-38036400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
8	chr19:38035000-38036000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr19:38035000-38042800	ZNF genes & repeats	Brain Hippocampus Middle	brain

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