Variant report

Variant	rs73555546
Chromosome Location	chr19:40726825-40726826
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	REST	chr19:40721682-40727491	PANC-1	pancreas:	n/a	chr19:40721931-40721944 chr19:40726153-40726161
2	REST	chr19:40721744-40727478	PANC-1	pancreas:	n/a	chr19:40721931-40721944 chr19:40726153-40726161
3	REST	chr19:40725106-40729998	PANC-1	pancreas:	n/a	chr19:40726153-40726161

No.	Distal block	Cell Line	Cell type
1	chr19:40724342..40727794-chr19:40739430..40743149,3	K562	blood:
2	chr19:40726603..40728744-chr19:40770942..40773266,2	MCF-7	breast:
3	chr19:40722262..40725312-chr19:40726429..40730380,4	MCF-7	breast:
4	chr19:40719578..40724896-chr19:40726262..40733162,10	MCF-7	breast:
5	chr19:40721117..40723953-chr19:40725760..40727528,2	K562	blood:

Variant related genes	Relation type
TTC9B	TF binding region
ENSG00000174521	Chromatin interaction
ENSG00000105221	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1972545	1.00[AMR][1000 genomes]
rs56743160	1.00[AMR][1000 genomes]
rs58341807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58675277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61140926	1.00[AMR][1000 genomes]
rs61208274	1.00[AMR][1000 genomes]
rs7249252	1.00[AMR][1000 genomes]
rs7256297	1.00[AMR][1000 genomes]
rs73547678	1.00[AMR][1000 genomes]
rs73547690	1.00[AMR][1000 genomes]
rs73549813	1.00[AMR][1000 genomes]
rs73553624	1.00[AMR][1000 genomes]
rs73553657	1.00[AMR][1000 genomes]
rs73555594	1.00[AMR][1000 genomes]
rs73557743	1.00[AMR][1000 genomes]
rs73557755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73559610	1.00[AMR][1000 genomes]
rs73559649	1.00[AMR][1000 genomes]
rs8107448	1.00[AMR][1000 genomes]
rs8109544	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv911699	chr19:40691632-40816530	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv911701	chr19:40695598-40728417	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv911702	chr19:40697061-40731371	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv911703	chr19:40711333-40730279	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv911704	chr19:40716652-40730279	Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv911705	chr19:40716652-40731371	ZNF genes & repeats Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
10	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40711200-40731800	Weak transcription	Right Atrium	heart
2	chr19:40723800-40729000	Weak transcription	Gastric	stomach
3	chr19:40724200-40729000	Weak transcription	Pancreas	Pancrea
4	chr19:40725400-40727000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr19:40726000-40731600	Weak transcription	NHLF	lung
6	chr19:40726200-40731400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr19:40726200-40731600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr19:40726200-40731600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr19:40726200-40731600	Weak transcription	NHDF-Ad	bronchial
10	chr19:40726400-40730600	Weak transcription	Hela-S3	cervix
11	chr19:40726400-40731600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr19:40726400-40731600	Weak transcription	A549	lung
13	chr19:40726400-40735200	Weak transcription	K562	blood

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