Variant report

Variant	rs559034741
Chromosome Location	chr15:45737640-45737641
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	POLR2A	chr15:45737319-45739201	Hela-S3	cervix:	n/a	n/a
2	SIN3AK20	chr15:45737365-45738142	MCF-7	breast:	n/a	n/a
3	KAP1	chr15:45737582-45738112	U2OS	brain:	n/a	n/a
4	CTCF	chr15:45737580-45737730	AG09319	gingival:	n/a	n/a
5	CEBPB	chr15:45737515-45737933	ECC-1	luminal epithelium:	n/a	chr15:45737703-45737714
6	CEBPB	chr15:45737495-45737920	A549	lung:	n/a	chr15:45737703-45737714
7	RAD21	chr15:45737494-45737937	Hela-S3	cervix:	n/a	chr15:45737646-45737658
8	CEBPB	chr15:45737453-45737961	MCF-7	breast:	n/a	chr15:45737703-45737714
9	FOS	chr15:45737311-45738176	MCF10A-Er-Src	breast:	n/a	chr15:45737964-45737972 chr15:45737481-45737492
10	CTCF	chr15:45737580-45737730	NB4	blood:	n/a	n/a
11	RFX5	chr15:45737590-45737931	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr15:45737610-45738352	Hela-S3	cervix:	n/a	n/a
13	ZNF263	chr15:45737548-45738204	HEK293-T-REx	kidney:	n/a	n/a
14	CEBPB	chr15:45737561-45737972	H1-hESC	embryonic stem cell:	n/a	chr15:45737703-45737714
15	STAT3	chr15:45737533-45738335	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr15:45737558-45738145	MCF10A-Er-Src	breast:	n/a	n/a
17	CEBPB	chr15:45737408-45738233	Hela-S3	cervix:	n/a	chr15:45737703-45737714
18	EP300	chr15:45737565-45738109	Hela-S3	cervix:	n/a	chr15:45737827-45737841
19	FOS	chr15:45737342-45738143	MCF10A-Er-Src	breast:	n/a	chr15:45737964-45737972 chr15:45737481-45737492
20	ZNF143	chr15:45737394-45738262	Hela-S3	cervix:	n/a	chr15:45737642-45737660
21	CEBPB	chr15:45737437-45738042	MCF-7	breast:	n/a	chr15:45737703-45737714
22	CEBPB	chr15:45737545-45737883	IMR90	lung:	n/a	chr15:45737703-45737714
23	STAT3	chr15:45737563-45738041	Hela-S3	cervix:	n/a	n/a
24	E2F4	chr15:45737640-45737870	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr15:45737586-45738552	MCF10A-Er-Src	breast:	n/a	n/a
26	CTCF	chr15:45737620-45737689	Hela-S3	cervix:	n/a	n/a
27	STAT3	chr15:45737443-45738316	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr15:45737369-45737729	U87	brain:	n/a	n/a
29	CTCF	chr15:45737520-45737670	SAEC	small airway:	n/a	n/a
30	TCF7L2	chr15:45737423-45738211	Hela-S3	cervix:	n/a	chr15:45738007-45738014
31	SMARCC1	chr15:45737203-45738499	Hela-S3	cervix:	n/a	n/a
32	FOS	chr15:45737586-45738169	MCF10A-Er-Src	breast:	n/a	chr15:45737964-45737972
33	RCOR1	chr15:45737533-45738214	Hela-S3	cervix:	n/a	n/a
34	MYC	chr15:45737298-45738321	MCF10A-Er-Src	breast:	n/a	chr15:45737362-45737372 chr15:45737361-45737372 chr15:45737486-45737497
35	TFAP2A	chr15:45737431-45738502	Hela-S3	cervix:	n/a	chr15:45738109-45738120 chr15:45737693-45737704 chr15:45737648-45737660 chr15:45737693-45737704 chr15:45737692-45737707 chr15:45738023-45738037 chr15:45737692-45737706 chr15:45737692-45737706 chr15:45737693-45737704
36	POLR2A	chr15:45737369-45737852	U87	brain:	n/a	n/a
37	TFAP2C	chr15:45737225-45738537	Hela-S3	cervix:	n/a	chr15:45737692-45737707 chr15:45738107-45738122
38	ZKSCAN1	chr15:45737334-45737812	Hela-S3	cervix:	n/a	n/a
39	CHD2	chr15:45737272-45737949	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr15:45737551-45737929	ECC-1	luminal epithelium:	n/a	chr15:45737703-45737714
41	NFIC	chr15:45737423-45737999	ECC-1	luminal epithelium:	n/a	n/a
42	SMARCB1	chr15:45737163-45738442	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr15:45737584-45737854	HepG2	liver:	n/a	chr15:45737703-45737714
44	CEBPB	chr15:45737556-45737855	K562	blood:	n/a	chr15:45737703-45737714
45	POU2F2	chr15:45737568-45737990	GM12878	blood:	n/a	chr15:45737815-45737824 chr15:45737813-45737825 chr15:45737814-45737824 chr15:45737814-45737824
46	SMC3	chr15:45737503-45738145	Hela-S3	cervix:	n/a	n/a
47	MYC	chr15:45737395-45738211	MCF10A-Er-Src	breast:	n/a	chr15:45737486-45737497
48	CEBPB	chr15:45737461-45737962	A549	lung:	n/a	chr15:45737703-45737714
49	STAT3	chr15:45737529-45738331	MCF10A-Er-Src	breast:	n/a	n/a
50	USF2	chr15:45737351-45738284	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45736069..45742318-chr15:45926037..45929619,6	MCF-7	breast:
2	chr15:45693986..45696362-chr15:45736299..45740535,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259342	TF binding region
ENSG00000259354	TF binding region
ENSG00000171763	Chromatin interaction
ENSG00000137767	Chromatin interaction
ENSG00000171766	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	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
2	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
3	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv469721	chr15:45608881-45788002	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv482380	chr15:45608881-45788002	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv442701	chr15:45737096-45748752	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45731400-45740400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:45734200-45738000	Enhancers	Stomach Mucosa	stomach
3	chr15:45735200-45740400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:45735200-45740400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:45735800-45738600	Enhancers	Esophagus	oesophagus
6	chr15:45736600-45738600	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr15:45736800-45738200	Enhancers	A549	lung
8	chr15:45736800-45739200	Enhancers	Placenta	Placenta
9	chr15:45736800-45739200	Enhancers	Gastric	stomach
10	chr15:45737000-45737800	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr15:45737000-45738400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr15:45737000-45738400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr15:45737000-45738400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr15:45737000-45738400	Enhancers	Adipose Nuclei	Adipose
15	chr15:45737000-45739000	Enhancers	Fetal Intestine Large	intestine
16	chr15:45737000-45739000	Enhancers	Fetal Intestine Small	intestine
17	chr15:45737200-45738200	Enhancers	Osteobl	bone
18	chr15:45737200-45738400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr15:45737200-45738400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr15:45737200-45738400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr15:45737200-45738400	Enhancers	Lung	lung
22	chr15:45737200-45738400	Enhancers	Right Atrium	heart
23	chr15:45737200-45738600	Flanking Active TSS	Hela-S3	cervix
24	chr15:45737200-45739000	Enhancers	Liver	Liver
25	chr15:45737200-45739200	Enhancers	Pancreas	Pancrea
26	chr15:45737400-45738000	Enhancers	HSMM	muscle
27	chr15:45737400-45738200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr15:45737400-45738200	Enhancers	HMEC	breast
29	chr15:45737400-45738400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr15:45737400-45738400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
31	chr15:45737400-45738400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr15:45737400-45738400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr15:45737400-45738400	Enhancers	NHDF-Ad	bronchial
34	chr15:45737400-45738600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr15:45737400-45738600	Bivalent Enhancer	NHEK	skin
36	chr15:45737400-45739000	Enhancers	Placenta Amnion	Placenta Amnion
37	chr15:45737600-45737800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr15:45737600-45737800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
39	chr15:45737600-45737800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr15:45737600-45738200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr15:45737600-45738200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr15:45737600-45738200	Active TSS	Colonic Mucosa	Colon
43	chr15:45737600-45738200	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr15:45737600-45738400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr15:45737600-45738400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr15:45737600-45738400	Bivalent Enhancer	Fetal Stomach	stomach
47	chr15:45737600-45738400	Enhancers	GM12878-XiMat	blood
48	chr15:45737600-45739200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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