Variant report

Variant	rs550972788
Chromosome Location	chr15:74218949-74218950
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:64)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:64 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr15:74218547-74219236	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTBP2	chr15:74218578-74219345	H1-hESC	embryonic stem cell:	n/a	n/a
3	SRF	chr15:74218607-74219121	ECC-1	luminal epithelium:	n/a	chr15:74218848-74218862 chr15:74218851-74218865 chr15:74218850-74218863 chr15:74218848-74218866
4	RCOR1	chr15:74218148-74219871	IMR90	lung:	n/a	n/a
5	POLR2A	chr15:74218686-74219025	HUVEC	blood vessel:	n/a	n/a
6	TEAD4	chr15:74218394-74219019	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr15:74218463-74220913	MCF-7	breast:	n/a	n/a
8	POLR2A	chr15:74218493-74219160	SK-N-MC	brain:	n/a	n/a
9	FOSL1	chr15:74218340-74219128	HCT-116	colon:	n/a	chr15:74218439-74218450
10	MAZ	chr15:74216078-74220816	IMR90	lung:	n/a	n/a
11	NFIC	chr15:74218412-74220406	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr15:74218425-74220724	ProgFib	skin:	n/a	n/a
13	HMGN3	chr15:74218623-74219043	K562	blood:	n/a	n/a
14	MXI1	chr15:74217976-74222304	IMR90	lung:	n/a	n/a
15	SP1	chr15:74218590-74218982	H1-hESC	embryonic stem cell:	n/a	n/a
16	FOSL1	chr15:74218446-74218988	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr15:74218504-74220498	IMR90	lung:	n/a	n/a
18	SP1	chr15:74218483-74218960	H1-hESC	embryonic stem cell:	n/a	chr15:74218524-74218533 chr15:74218525-74218534 chr15:74218523-74218535 chr15:74218525-74218534 chr15:74218523-74218535 chr15:74218524-74218534
19	POLR2A	chr15:74218128-74220905	MCF-7	breast:	n/a	n/a
20	POLR2A	chr15:74218534-74219009	HUVEC	blood vessel:	n/a	n/a
21	MAX	chr15:74218561-74219167	SK-N-SH	brain:	n/a	n/a
22	EGR1	chr15:74218520-74218964	H1-hESC	embryonic stem cell:	n/a	n/a
23	KAP1	chr15:74218317-74219199	HEK293	kidney:	n/a	n/a
24	POLR2A	chr15:74218562-74220432	MCF-7	breast:	n/a	n/a
25	POLR2A	chr15:74218558-74219069	PANC-1	pancreas:	n/a	n/a
26	SRF	chr15:74218600-74219087	ECC-1	luminal epithelium:	n/a	chr15:74218848-74218862 chr15:74218851-74218865 chr15:74218850-74218863 chr15:74218848-74218866
27	MAX	chr15:74218460-74220440	ECC-1	luminal epithelium:	n/a	n/a
28	TAF1	chr15:74218531-74219754	ECC-1	luminal epithelium:	n/a	n/a
29	MYC	chr15:74218607-74218999	MCF10A-Er-Src	breast:	n/a	n/a
30	MAX	chr15:74218518-74220264	ECC-1	luminal epithelium:	n/a	n/a
31	EP300	chr15:74218396-74220477	ECC-1	luminal epithelium:	n/a	chr15:74218605-74218618
32	POLR2A	chr15:74218633-74219027	MCF10A-Er-Src	breast:	n/a	n/a
33	TAF1	chr15:74218536-74219037	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr15:74218623-74219073	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr15:74218273-74219818	U87	brain:	n/a	n/a
36	POLR2A	chr15:74218435-74220511	MCF-7	breast:	n/a	n/a
37	TCF12	chr15:74218425-74220518	ECC-1	luminal epithelium:	n/a	n/a
38	TBP	chr15:74218565-74218984	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr15:74218587-74219799	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr15:74218607-74219070	ECC-1	luminal epithelium:	n/a	n/a
41	NFIC	chr15:74218376-74219781	ECC-1	luminal epithelium:	n/a	n/a
42	MYC	chr15:74218702-74219156	MCF-7	breast:	n/a	n/a
43	TCF12	chr15:74218309-74219834	ECC-1	luminal epithelium:	n/a	n/a
44	MXI1	chr15:74218556-74219152	H1-hESC	embryonic stem cell:	n/a	n/a
45	SIN3A	chr15:74218455-74220335	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr15:74218716-74219038	Gliobla	brain:	n/a	n/a
47	ZNF263	chr15:74218454-74218959	HEK293-T-REx	kidney:	n/a	n/a
48	POLR2A	chr15:74218643-74219126	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr15:74218585-74219033	HCT-116	colon:	n/a	n/a
50	ZNF143	chr15:74218391-74219021	H1-hESC	embryonic stem cell:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:74218904-74218954	GM12891	blood:	n/a
2	chr15:74218921-74218971	K562	blood:	n/a
3	chr15:74218921-74218971	PFSK-1	brain:	n/a
4	chr15:74218904-74218954	AG09319	gingival:	n/a
5	chr15:74218904-74218954	HNPCEpiC	eye:	n/a
6	chr15:74218921-74218971	HIPEpiC	eye:	n/a
7	chr15:74218921-74218971	HEK293	kidney:	embryo
8	chr15:74218921-74218971	HRPEpiC	eye:	n/a
9	chr15:74218904-74218954	U87	brain:	n/a
10	chr15:74218904-74218954	NT2-D1	testis:	n/a
11	chr15:74218904-74218954	PrEC	prostate:	n/a
12	chr15:74218904-74218954	AG09309	skin:	n/a
13	chr15:74218921-74218971	HEEpiC	esophagus:	n/a
14	chr15:74218921-74218971	PANC-1	pancreas:	n/a
15	chr15:74218921-74218971	HL-60	blood:	n/a
16	chr15:74218904-74218954	NHDF-neo	bronchial:	n/a
17	chr15:74218921-74218971	IMR90	lung:	fetal
18	chr15:74218921-74218971	HRCEpiC	kidney:	n/a
19	chr15:74218921-74218971	SKMC	muscle:	n/a
20	chr15:74218921-74218971	BE2_C	brain:	n/a
21	chr15:74218921-74218971	HUVEC	blood vessel:	n/a
22	chr15:74218921-74218971	A549	lung:	n/a
23	chr15:74218904-74218954	SAEC	small airway:	n/a
24	chr15:74218921-74218971	H1-hESC	embryonic stem cell:	embryo
25	chr15:74218904-74218954	H1-hESC	embryonic stem cell:	embryo
26	chr15:74218921-74218971	HCF	heart:	n/a
27	chr15:74218904-74218954	Hepatocyte	liver:	n/a
28	chr15:74218921-74218971	BJ	skin:	n/a
29	chr15:74218904-74218954	ECC-1	luminal epithelium:	n/a
30	chr15:74218921-74218971	ovcar-3	ovarian:	n/a
31	chr15:74218921-74218971	Hela-S3	cervix:	n/a
32	chr15:74218904-74218954	NH-A	brain:	n/a
33	chr15:74218904-74218954	HCT-116	colon:	n/a
34	chr15:74218904-74218954	PANC-1	pancreas:	n/a
35	chr15:74218921-74218971	AG04450	lung:	fetal
36	chr15:74218921-74218971	AG09319	gingival:	n/a
37	chr15:74218904-74218954	HEEpiC	esophagus:	n/a
38	chr15:74218921-74218971	Jurkat	blood:	n/a
39	chr15:74218921-74218971	SAEC	small airway:	n/a
40	chr15:74218904-74218954	HCF	heart:	n/a
41	chr15:74218904-74218954	MCF10A-Er-Src	breast:	n/a
42	chr15:74218921-74218971	AoSMC	blood vessel:	n/a
43	chr15:74218921-74218971	ProgFib	skin:	n/a
44	chr15:74218904-74218954	HRCEpiC	kidney:	n/a
45	chr15:74218904-74218954	SK-N-SH_RA	brain:	n/a
46	chr15:74218904-74218954	GM12892	blood:	n/a
47	chr15:74218904-74218954	HPAEpiC	pulmonary alveolar:	n/a
48	chr15:74218921-74218971	HCT-116	colon:	n/a
49	chr15:74218904-74218954	CMK	blood:	n/a
50	chr15:74218904-74218954	AG04450	lung:	fetal

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:74217306..74220336-chr15:74236509..74239961,4	MCF-7	breast:
2	chr15:74163735..74170089-chr15:74218002..74222715,6	MCF-7	breast:

No data

Variant related genes	Relation type
LOXL1-AS1	TF binding region
LOXL1-AS1	CpG island
ENSG00000260624	Chromatin interaction
ENSG00000167139	Chromatin interaction
ENSG00000129038	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	nsv1043335	chr15:74078689-74241186	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1603	chr15:74191222-74235733	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2758387	chr15:74215114-74464916	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv2760040	chr15:74215114-74464916	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv428308	chr15:74215114-74464916	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	esv3324978	chr15:74218524-74221272	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74213600-74219000	Enhancers	Stomach Mucosa	stomach
2	chr15:74214800-74219200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
3	chr15:74215400-74219400	Enhancers	Primary T cells fromperipheralblood	blood
4	chr15:74215600-74219000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr15:74215600-74219000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr15:74215600-74219000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr15:74215800-74219400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr15:74216000-74219000	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr15:74216000-74219400	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr15:74216000-74219400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr15:74216800-74220800	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr15:74217200-74219600	Weak transcription	A549	lung
13	chr15:74217400-74219200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr15:74217600-74219200	Weak transcription	Primary T cells from cord blood	blood
15	chr15:74217800-74219000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr15:74217800-74219200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr15:74217800-74220400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr15:74218000-74219400	Enhancers	Small Intestine	intestine
19	chr15:74218000-74220000	Weak transcription	Hela-S3	cervix
20	chr15:74218200-74219400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr15:74218200-74219400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr15:74218200-74221200	Active TSS	Aorta	Aorta
23	chr15:74218400-74219000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
24	chr15:74218400-74219000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr15:74218400-74219000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
26	chr15:74218400-74219000	Enhancers	Lung	lung
27	chr15:74218400-74219000	Flanking Active TSS	Rectal Smooth Muscle	rectum
28	chr15:74218400-74219200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
29	chr15:74218400-74219200	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr15:74218400-74219200	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr15:74218400-74219200	Flanking Active TSS	Fetal Muscle Trunk	muscle
32	chr15:74218400-74219200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr15:74218400-74219600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr15:74218400-74219600	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr15:74218400-74219800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr15:74218400-74219800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr15:74218400-74219800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr15:74218400-74219800	Flanking Active TSS	Fetal Muscle Leg	muscle
39	chr15:74218400-74219800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr15:74218400-74220400	Active TSS	H9 Cell Line	embryonic stem cell
41	chr15:74218400-74220600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr15:74218400-74220800	Flanking Active TSS	HMEC	breast
43	chr15:74218400-74221000	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr15:74218400-74221200	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr15:74218400-74221200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr15:74218600-74219000	Bivalent Enhancer	Fetal Brain Male	brain
47	chr15:74218600-74219000	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr15:74218600-74219200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr15:74218600-74219200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
50	chr15:74218600-74219200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine

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