Variant report

Variant	esv1792546
Chromosome Location	chr7:33304218-33346932
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:106)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:106 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr7:33346807-33347032	GM12878	blood:	n/a	n/a
2	CEBPB	chr7:33329609-33329873	K562	blood:	n/a	chr7:33329729-33329740
3	CEBPB	chr7:33329623-33329910	A549	lung:	n/a	chr7:33329729-33329740
4	CEBPB	chr7:33329567-33329912	HepG2	liver:	n/a	chr7:33329729-33329740
5	CEBPB	chr7:33329578-33329864	H1-hESC	embryonic stem cell:	n/a	chr7:33329729-33329740
6	CEBPB	chr7:33329562-33329894	IMR90	lung:	n/a	chr7:33329729-33329740
7	CHD1	chr7:33331587-33331759	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr7:33317840-33317990	A549	lung:	n/a	n/a
9	CTCF	chr7:33317780-33317930	HepG2	liver:	n/a	n/a
10	CTCF	chr7:33317860-33318010	GM12878	blood:	n/a	n/a
11	CTCF	chr7:33317876-33317935	HepG2	liver:	n/a	n/a
12	CTCF	chr7:33317881-33317923	MCF-7	breast:	n/a	n/a
13	CTCF	chr7:33316512-33316568	MCF-7	breast:	n/a	n/a
14	CTCF	chr7:33317820-33317970	K562	blood:	n/a	n/a
15	CTCF	chr7:33317820-33317970	MCF-7	breast:	n/a	n/a
16	CTCF	chr7:33317860-33318010	MCF-7	breast:	n/a	n/a
17	CTCF	chr7:33317856-33317906	A549	lung:	n/a	n/a
18	CTCF	chr7:33317825-33317971	K562	blood:	n/a	n/a
19	CTCF	chr7:33339480-33339630	AG10803	skin:	n/a	n/a
20	CTCF	chr7:33317840-33317990	NB4	blood:	n/a	n/a
21	CTCF	chr7:33317760-33317910	GM12871	blood:	n/a	n/a
22	CTCF	chr7:33317840-33317990	GM12872	blood:	n/a	n/a
23	CTCF	chr7:33317717-33318032	K562	blood:	n/a	n/a
24	CTCF	chr7:33318880-33319030	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr7:33317800-33317950	HCT-116	colon:	n/a	n/a
26	CTCF	chr7:33317800-33317950	HEK293	kidney:	n/a	n/a
27	CTCF	chr7:33317782-33317984	HepG2	liver:	n/a	n/a
28	CTCF	chr7:33317785-33318013	HepG2	liver:	n/a	n/a
29	CTCF	chr7:33317780-33317930	BE2_C	brain:	n/a	n/a
30	CTCF	chr7:33317741-33317999	K562	blood:	n/a	n/a
31	CTCF	chr7:33317881-33317898	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr7:33317865-33317876	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr7:33317811-33317944	Gliobla	brain:	n/a	n/a
34	CTCF	chr7:33317780-33317930	HFF-Myc	foreskin:	n/a	n/a
35	CTCF	chr7:33317840-33317990	Hela-S3	cervix:	n/a	n/a
36	E2F4	chr7:33327108-33327317	MCF10A-Er-Src	breast:	n/a	n/a
37	E2F4	chr7:33306664-33306864	MCF10A-Er-Src	breast:	n/a	n/a
38	EBF1	chr7:33315989-33316239	GM12878	blood:	n/a	n/a
39	EP300	chr7:33316029-33316293	GM12878	blood:	n/a	chr7:33316257-33316271 chr7:33316255-33316269
40	FOS	chr7:33305917-33306115	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr7:33346399-33346539	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr7:33315024-33315028	MCF10A-Er-Src	breast:	n/a	n/a
43	GATA2	chr7:33338303-33338828	SH-SY5Y	brain:	n/a	n/a
44	GATA3	chr7:33333696-33333702	SH-SY5Y	brain:	n/a	n/a
45	GATA3	chr7:33336239-33336530	T-47D	breast:	n/a	n/a
46	GATA3	chr7:33337219-33337297	SH-SY5Y	brain:	n/a	n/a
47	GATA3	chr7:33336714-33336769	SH-SY5Y	brain:	n/a	n/a
48	GATA3	chr7:33342820-33342954	SH-SY5Y	brain:	n/a	n/a
49	GATA3	chr7:33338473-33338847	SH-SY5Y	brain:	n/a	n/a
50	GATA3	chr7:33320409-33320567	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:33343842-33343892	Hela-S3	cervix:	n/a
2	chr7:33343842-33343892	ProgFib	skin:	n/a
3	chr7:33343842-33343892	CMK	blood:	n/a
4	chr7:33343842-33343892	Caco-2	colon:	n/a
5	chr7:33343842-33343892	H1-hESC	embryonic stem cell:	embryo
6	chr7:33343842-33343892	U87	brain:	n/a
7	chr7:33343842-33343892	T-47D	breast:	n/a
8	chr7:33343842-33343892	MCF-7	breast:	n/a
9	chr7:33343842-33343892	NHDF-neo	bronchial:	n/a
10	chr7:33343842-33343892	BJ	skin:	n/a
11	chr7:33343842-33343892	HCM	heart:	n/a
12	chr7:33343842-33343892	BE2_C	brain:	n/a
13	chr7:33343842-33343892	AG10803	skin:	n/a
14	chr7:33343842-33343892	HRCEpiC	kidney:	n/a
15	chr7:33343842-33343892	HNPCEpiC	eye:	n/a
16	chr7:33343842-33343892	HIPEpiC	eye:	n/a
17	chr7:33343842-33343892	HepG2	liver:	n/a
18	chr7:33343842-33343892	AG04450	lung:	fetal
19	chr7:33343842-33343892	AG09309	skin:	n/a
20	chr7:33343842-33343892	PFSK-1	brain:	n/a
21	chr7:33343842-33343892	A549	lung:	n/a
22	chr7:33343842-33343892	SK-N-MC	brain:	n/a
23	chr7:33343842-33343892	HPAEpiC	pulmonary alveolar:	n/a
24	chr7:33343842-33343892	SK-N-SH	brain:	n/a
25	chr7:33343842-33343892	K562	blood:	n/a
26	chr7:33343842-33343892	Hepatocyte	liver:	n/a
27	chr7:33343842-33343892	HUVEC	blood vessel:	n/a
28	chr7:33343842-33343892	ECC-1	luminal epithelium:	n/a
29	chr7:33343842-33343892	PANC-1	pancreas:	n/a
30	chr7:33343842-33343892	HMEC	breast:	n/a
31	chr7:33343842-33343892	SKMC	muscle:	n/a
32	chr7:33343842-33343892	LNCaP	prostate:	n/a
33	chr7:33343842-33343892	SAEC	small airway:	n/a
34	chr7:33343842-33343892	HAEpiC	amniotic membrane:	n/a
35	chr7:33343842-33343892	NB4	blood:	n/a
36	chr7:33343842-33343892	HRPEpiC	eye:	n/a
37	chr7:33343842-33343892	HEEpiC	esophagus:	n/a
38	chr7:33343842-33343892	HEK293	kidney:	embryo
39	chr7:33343842-33343892	HCPEpiC	choroid plexus:	n/a
40	chr7:33343842-33343892	GM12878	blood:	n/a
41	chr7:33343842-33343892	GM19239	blood:	n/a
42	chr7:33343842-33343892	IMR90	lung:	fetal
43	chr7:33343842-33343892	GM06990	blood:	n/a
44	chr7:33343842-33343892	HCT-116	colon:	n/a
45	chr7:33343842-33343892	HRE	kidney:	n/a
46	chr7:33343842-33343892	PrEC	prostate:	n/a
47	chr7:33343842-33343892	GM12892	blood:	n/a
48	chr7:33343842-33343892	Jurkat	blood:	n/a
49	chr7:33343842-33343892	NT2-D1	testis:	n/a
50	chr7:33343842-33343892	AoSMC	blood vessel:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:33306418..33309708-chr7:33313851..33316308,3	K562	blood:
2	chr7:33306418..33309708-chr7:33313851..33316308,3	K562	blood:
3	chr7:33314204..33317885-chr7:33320684..33323971,3	K562	blood:
4	chr7:33288330..33291319-chr7:33303929..33306157,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000224946	TF binding region
ENSG00000224946	CpG island
ENSG00000224946	chromatin interactions

Extended variants
information (count: 1551 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1551 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7793862	chr7:33304218-33304219	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561972774	chr7:33304220-33304221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369760619	chr7:33304231-33304232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529162615	chr7:33304322-33304323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551228341	chr7:33304371-33304372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541301953	chr7:33304425-33304426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559698320	chr7:33304494-33304495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375566397	chr7:33304502-33304503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149511179	chr7:33304509-33304510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192859665	chr7:33304522-33304523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563372296	chr7:33304523-33304524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530563365	chr7:33304579-33304580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548950786	chr7:33304596-33304597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539788201	chr7:33304630-33304631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534636711	chr7:33304639-33304640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs60580588	chr7:33304673-33304674	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs144105733	chr7:33304695-33304696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532536186	chr7:33304721-33304722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188776307	chr7:33304729-33304730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138770662	chr7:33304791-33304792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs71532569	chr7:33304831-33304832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115947457	chr7:33304849-33304850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537176329	chr7:33304869-33304870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540335019	chr7:33304940-33304941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573110471	chr7:33304957-33304958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547606274	chr7:33304966-33304967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141880742	chr7:33305007-33305008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192051947	chr7:33305040-33305041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541442903	chr7:33305047-33305048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559637794	chr7:33305075-33305076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146055357	chr7:33305093-33305094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566150183	chr7:33305112-33305113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140043347	chr7:33305139-33305140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545216531	chr7:33305163-33305164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184500665	chr7:33305182-33305183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530608335	chr7:33305184-33305185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190549358	chr7:33305185-33305186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142338843	chr7:33305189-33305190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376829584	chr7:33305241-33305242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528035160	chr7:33305269-33305270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35925188	chr7:33305308-33305309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530247434	chr7:33305378-33305379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182244077	chr7:33305392-33305393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201204192	chr7:33305411-33305412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113890341	chr7:33305449-33305450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139336652	chr7:33305450-33305451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551537068	chr7:33305486-33305487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570120940	chr7:33305520-33305521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537665515	chr7:33305578-33305579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114334106	chr7:33305625-33305626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21935476	CNVD
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Williams-beuren syndrome	18553513	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33283800-33316000	Weak transcription	Ovary	ovary
2	chr7:33288800-33317600	Weak transcription	Gastric	stomach
3	chr7:33289400-33309000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr7:33289600-33310800	Weak transcription	Psoas Muscle	Psoas
5	chr7:33290000-33316200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr7:33290800-33309000	Weak transcription	Fetal Stomach	stomach
7	chr7:33290800-33316400	Weak transcription	Aorta	Aorta
8	chr7:33291200-33316000	Weak transcription	Primary T cells from cord blood	blood
9	chr7:33291600-33305200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:33291800-33307600	Weak transcription	Left Ventricle	heart
11	chr7:33297400-33310800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr7:33300400-33309800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:33302200-33317400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:33302600-33308800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:33305200-33305400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:33305600-33305800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:33305800-33306000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:33305800-33317400	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr7:33306000-33309000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:33306200-33316200	Weak transcription	Pancreas	Pancrea
21	chr7:33307200-33311000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:33307400-33308800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:33307600-33308000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:33307600-33308200	Genic enhancers	Left Ventricle	heart
25	chr7:33307600-33308800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr7:33307600-33315000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr7:33307800-33308600	Enhancers	Spleen	Spleen
28	chr7:33308000-33308200	Enhancers	Lung	lung
29	chr7:33308200-33316000	Weak transcription	Left Ventricle	heart
30	chr7:33308200-33316200	Weak transcription	Lung	lung
31	chr7:33308600-33316400	Weak transcription	Spleen	Spleen
32	chr7:33309000-33309200	Enhancers	Fetal Muscle Trunk	muscle
33	chr7:33309000-33309400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
34	chr7:33309000-33309400	ZNF genes & repeats	Fetal Intestine Small	intestine
35	chr7:33309000-33309400	ZNF genes & repeats	Fetal Stomach	stomach
36	chr7:33309400-33313000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr7:33309400-33316200	Weak transcription	Fetal Stomach	stomach
38	chr7:33310800-33311000	Weak transcription	Fetal Intestine Large	intestine
39	chr7:33310800-33311200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
40	chr7:33310800-33311200	ZNF genes & repeats	Psoas Muscle	Psoas
41	chr7:33311000-33311200	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr7:33311000-33311200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:33311000-33316400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr7:33311200-33311800	Weak transcription	Liver	Liver
45	chr7:33311200-33313800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr7:33311200-33317400	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr7:33311200-33317600	Weak transcription	Psoas Muscle	Psoas
48	chr7:33311200-33325200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:33311800-33316800	Weak transcription	Primary B cells from peripheral blood	blood
50	chr7:33311800-33317000	Weak transcription	Fetal Intestine Large	intestine

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