Variant report

Variant	rs572517484
Chromosome Location	chr19:55958766-55958767
allele	C/T
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	POLR2A	chr19:55958745-55959544	HL-60	blood:	n/a	n/a
2	MYC	chr19:55958399-55959502	MCF10A-Er-Src	breast:	n/a	chr19:55959267-55959276 chr19:55959268-55959275 chr19:55959266-55959276
3	NFIC	chr19:55958688-55959430	ECC-1	luminal epithelium:	n/a	n/a
4	MAX	chr19:55958329-55958854	K562	blood:	n/a	n/a
5	NFIC	chr19:55958701-55959498	ECC-1	luminal epithelium:	n/a	n/a
6	BHLHE40	chr19:55958359-55959413	K562	blood:	n/a	n/a
7	MAX	chr19:55958257-55959496	ECC-1	luminal epithelium:	n/a	chr19:55959267-55959276 chr19:55959268-55959275 chr19:55959266-55959276
8	MAX	chr19:55958249-55959683	K562	blood:	n/a	chr19:55959267-55959276 chr19:55959268-55959275 chr19:55959266-55959276
9	MXI1	chr19:55958466-55959920	SK-N-SH	brain:	n/a	n/a
10	MAX	chr19:55958326-55959461	ECC-1	luminal epithelium:	n/a	chr19:55959267-55959276 chr19:55959268-55959275 chr19:55959266-55959276
11	MAX	chr19:55958378-55958773	H1-hESC	embryonic stem cell:	n/a	n/a
12	E2F6	chr19:55958487-55959449	K562	blood:	n/a	n/a
13	MAX	chr19:55958296-55959737	A549	lung:	n/a	chr19:55959267-55959276 chr19:55959268-55959275 chr19:55959266-55959276
14	BHLHE40	chr19:55958540-55959403	A549	lung:	n/a	n/a
15	MYC	chr19:55958325-55959498	MCF10A-Er-Src	breast:	n/a	chr19:55959267-55959276 chr19:55959268-55959275 chr19:55959266-55959276
16	EP300	chr19:55958736-55959402	ECC-1	luminal epithelium:	n/a	n/a
17	KAP1	chr19:55958618-55959811	HEK293	kidney:	n/a	n/a
18	MAX	chr19:55958641-55959585	A549	lung:	n/a	chr19:55959267-55959276 chr19:55959268-55959275 chr19:55959266-55959276

No.	Distal block	Cell Line	Cell type
1	chr19:55951334..55954027-chr19:55956073..55960032,6	K562	blood:
2	chr19:55720436..55722894-chr19:55958561..55960707,2	K562	blood:
3	chr19:55951993..55955744-chr19:55955995..55960866,9	K562	blood:
4	chr19:55915948..55921315-chr19:55958410..55968133,14	K562	blood:
5	chr19:55956258..55958945-chr19:55964103..55966551,2	K562	blood:
6	chr19:55917660..55921323-chr19:55957478..55961144,4	MCF-7	breast:
7	chr19:55953882..55955402-chr19:55958561..55961003,2	MCF-7	breast:

Variant related genes	Relation type
SHISA7	TF binding region
ENSG00000187902	Chromatin interaction
ENSG00000080031	Chromatin interaction
ENSG00000108106	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	228 gene(s)	inside rSNPs	diseases
2	nsv432086	chr19:55807586-56050844	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	nsv912463	chr19:55845386-56004901	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
4	nsv912473	chr19:55874642-56145428	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong 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 miRNA target site	233 gene(s)	inside rSNPs	diseases
5	nsv912477	chr19:55936376-55972950	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv912478	chr19:55936376-56045522	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
7	nsv912479	chr19:55942456-55969746	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	esv3421154	chr19:55958040-55962238	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55954200-55962800	Weak transcription	Right Atrium	heart
2	chr19:55957400-55959600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:55957400-55959800	Enhancers	NHEK	skin
4	chr19:55957400-55960200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr19:55957400-55960400	Enhancers	HMEC	breast
6	chr19:55957600-55959600	Enhancers	Esophagus	oesophagus
7	chr19:55957800-55959400	Weak transcription	Pancreas	Pancrea
8	chr19:55957800-55959600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr19:55958200-55960600	Enhancers	K562	blood
10	chr19:55958400-55958800	Enhancers	Brain Cingulate Gyrus	brain
11	chr19:55958400-55959000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
12	chr19:55958400-55959200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:55958400-55959200	Enhancers	Brain Anterior Caudate	brain
14	chr19:55958400-55959800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
15	chr19:55958400-55960600	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr19:55958400-55960600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr19:55958400-55961000	Enhancers	Brain Hippocampus Middle	brain
18	chr19:55958600-55958800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr19:55958600-55958800	Bivalent Enhancer	Placenta	Placenta
20	chr19:55958600-55958800	Bivalent Enhancer	A549	lung
21	chr19:55958600-55959200	Enhancers	Brain Angular Gyrus	brain
22	chr19:55958600-55959400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr19:55958600-55959400	Enhancers	Right Ventricle	heart
24	chr19:55958600-55959800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr19:55958600-55961400	Enhancers	Brain Substantia Nigra	brain

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