Variant report

Variant	rs56056380
Chromosome Location	chr15:45369789-45369790
allele	C/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	GATA2	chr15:45369568-45370428	SH-SY5Y	brain:	n/a	n/a
2	POLR2A	chr15:45369605-45369956	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr15:45369600-45369839	Hela-S3	cervix:	n/a	n/a
4	REST	chr15:45369605-45369949	SK-N-SH	brain:	n/a	n/a
5	FOSL2	chr15:45369574-45370281	HepG2	liver:	n/a	n/a
6	POLR2A	chr15:45369741-45369805	K562	blood:	n/a	n/a
7	EP300	chr15:45369585-45369917	SK-N-SH_RA	brain:	n/a	n/a
8	EP300	chr15:45369321-45370166	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr15:45369460-45370784	SK-N-MC	brain:	n/a	n/a
10	EP300	chr15:45369562-45369894	SK-N-SH_RA	brain:	n/a	n/a
11	POLR2A	chr15:45369755-45370586	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000259352	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1108085	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758380	chr15:44968868-45422842	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	esv2760029	chr15:44968868-45422842	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
4	esv2757599	chr15:45100852-45383620	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv427961	chr15:45338381-45491634	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	nsv977711	chr15:45362652-45373399	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45345000-45374800	Weak transcription	Aorta	Aorta
2	chr15:45352000-45369800	Weak transcription	Lung	lung
3	chr15:45354800-45370400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:45360600-45371400	Weak transcription	Left Ventricle	heart
5	chr15:45362400-45371200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr15:45363600-45370000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr15:45363800-45370200	Weak transcription	Stomach Mucosa	stomach
8	chr15:45363800-45371800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr15:45363800-45398400	Weak transcription	Gastric	stomach
10	chr15:45365200-45372400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr15:45365400-45371400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr15:45365800-45369800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr15:45367800-45375400	Weak transcription	HepG2	liver
14	chr15:45369400-45370600	Enhancers	HUVEC	blood vessel
15	chr15:45369600-45369800	Enhancers	Right Ventricle	heart
16	chr15:45369600-45369800	Enhancers	Small Intestine	intestine
17	chr15:45369600-45370400	Enhancers	Duodenum Mucosa	Duodenum
18	chr15:45369600-45370600	Enhancers	Pancreas	Pancrea
19	chr15:45369600-45374200	Enhancers	Fetal Heart	heart
20	chr15:45369600-45376800	Enhancers	K562	blood

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