Variant report

Variant	rs73930657
Chromosome Location	chr19:40339246-40339247
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	SIN3AK20	chr19:40332892-40340524	PANC-1	pancreas:	n/a	n/a
2	SIN3AK20	chr19:40334304-40340581	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:40327985..40330266-chr19:40338198..40340868,2	MCF-7	breast:
2	chr19:40294943..40296744-chr19:40337305..40340033,2	MCF-7	breast:
3	chr19:40338036..40340893-chr19:40348527..40351769,3	MCF-7	breast:

Variant related genes	Relation type
FBL	TF binding region
ENSG00000105202	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10403751	1.00[EUR][1000 genomes]
rs10404090	1.00[EUR][1000 genomes]
rs10410397	1.00[EUR][1000 genomes]
rs10412290	1.00[EUR][1000 genomes]
rs10414733	1.00[EUR][1000 genomes]
rs10414955	1.00[EUR][1000 genomes]
rs10416176	1.00[EUR][1000 genomes]
rs11883291	1.00[EUR][1000 genomes]
rs28714112	1.00[EUR][1000 genomes]
rs56387916	1.00[EUR][1000 genomes]
rs58565953	1.00[EUR][1000 genomes]
rs59903001	1.00[EUR][1000 genomes]
rs59946095	1.00[EUR][1000 genomes]
rs60983054	1.00[EUR][1000 genomes]
rs73543039	1.00[EUR][1000 genomes]
rs73543045	1.00[EUR][1000 genomes]
rs73930604	1.00[EUR][1000 genomes]
rs73930650	1.00[EUR][1000 genomes]
rs73930653	1.00[EUR][1000 genomes]
rs73930660	1.00[AMR][1000 genomes]
rs73930662	1.00[AMR][1000 genomes]
rs73930778	1.00[EUR][1000 genomes]
rs73930779	1.00[EUR][1000 genomes]
rs73930780	1.00[EUR][1000 genomes]
rs8100743	1.00[EUR][1000 genomes]
rs8101720	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	esv3329492	chr19:40198535-40437035	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv911696	chr19:40310497-40344648	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv9725	chr19:40315519-40412523	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	26 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	chr19:40337600-40339400	Enhancers	Placenta	Placenta
2	chr19:40338000-40340000	Enhancers	HepG2	liver
3	chr19:40338000-40341400	Weak transcription	Hela-S3	cervix
4	chr19:40338400-40339400	Weak transcription	K562	blood
5	chr19:40338400-40341400	Weak transcription	A549	lung

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