Variant report

Variant	esv1796726
Chromosome Location	chr7:152463181-152498103
allele	n/a
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	ARID3A	chr7:152472214-152472530	K562	blood:	n/a	n/a
2	BACH1	chr7:152472250-152472616	K562	blood:	n/a	n/a
3	BATF	chr7:152468425-152468693	GM12878	blood:	n/a	n/a
4	CEBPB	chr7:152486009-152486212	IMR90	lung:	n/a	chr7:152486057-152486068
5	CEBPB	chr7:152485992-152486221	K562	blood:	n/a	chr7:152486057-152486068
6	CEBPB	chr7:152471805-152472360	K562	blood:	n/a	chr7:152471924-152471935 chr7:152471924-152471937 chr7:152471926-152471935 chr7:152471926-152471935 chr7:152471926-152471935 chr7:152471926-152471937 chr7:152471924-152471937 chr7:152471926-152471935
7	CEBPB	chr7:152486019-152486218	Hela-S3	cervix:	n/a	chr7:152486057-152486068
8	CEBPB	chr7:152471842-152472002	HepG2	liver:	n/a	chr7:152471924-152471935 chr7:152471924-152471937 chr7:152471926-152471935 chr7:152471926-152471935 chr7:152471926-152471935 chr7:152471926-152471937 chr7:152471924-152471937 chr7:152471926-152471935
9	CEBPB	chr7:152467845-152467970	HepG2	liver:	n/a	n/a
10	CEBPB	chr7:152485984-152486220	HepG2	liver:	n/a	chr7:152486057-152486068
11	CEBPB	chr7:152471828-152472031	A549	lung:	n/a	chr7:152471924-152471935 chr7:152471924-152471937 chr7:152471926-152471935 chr7:152471926-152471935 chr7:152471926-152471935 chr7:152471926-152471937 chr7:152471924-152471937 chr7:152471926-152471935
12	CEBPB	chr7:152471794-152472543	K562	blood:	n/a	chr7:152471924-152471935 chr7:152471924-152471937 chr7:152471926-152471935 chr7:152471926-152471935 chr7:152471926-152471935 chr7:152471926-152471937 chr7:152471924-152471937 chr7:152471926-152471935
13	CEBPB	chr7:152486008-152486144	HepG2	liver:	n/a	chr7:152486057-152486068
14	CEBPB	chr7:152485911-152486220	K562	blood:	n/a	chr7:152486057-152486068
15	CEBPB	chr7:152485980-152486179	H1-hESC	embryonic stem cell:	n/a	chr7:152486057-152486068
16	CEBPB	chr7:152485983-152486227	A549	lung:	n/a	chr7:152486057-152486068
17	CTCF	chr7:152482013-152482068	Kidney_OC	kidney:	n/a	n/a
18	CTCF	chr7:152481680-152481830	MCF-7	breast:	n/a	n/a
19	CTCF	chr7:152481640-152481790	RPTEC	kidney:	n/a	n/a
20	CTCF	chr7:152480516-152480533	LNCaP	prostate:	n/a	n/a
21	CTCF	chr7:152481733-152481873	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr7:152481617-152481895	K562	blood:	n/a	n/a
23	CTCF	chr7:152481786-152481826	Gliobla	brain:	n/a	n/a
24	CTCF	chr7:152481640-152481790	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr7:152473043-152473108	HepG2	liver:	n/a	chr7:152473076-152473097
26	CTCF	chr7:152481772-152481859	Fibrobl	skin:	n/a	n/a
27	CTCF	chr7:152481735-152481873	GM12878	blood:	n/a	n/a
28	CTCF	chr7:152481683-152481809	HepG2	liver:	n/a	n/a
29	CTCF	chr7:152481711-152481888	MCF-7	breast:	n/a	n/a
30	CTCF	chr7:152481771-152481835	GM19239	blood:	n/a	n/a
31	CTCF	chr7:152481738-152481855	A549	lung:	n/a	n/a
32	CTCF	chr7:152481717-152481883	MCF-7	breast:	n/a	n/a
33	CTCF	chr7:152481746-152481874	GM12891	blood:	n/a	n/a
34	CTCF	chr7:152481702-152481898	MCF-7	breast:	n/a	n/a
35	CTCF	chr7:152481745-152481845	GM19240	blood:	n/a	n/a
36	CTCF	chr7:152481680-152481830	HAc	cerebellar:	n/a	n/a
37	CTCF	chr7:152482847-152482851	Fibrobl	skin:	n/a	n/a
38	CTCF	chr7:152481743-152481876	GM19238	blood:	n/a	n/a
39	CTCF	chr7:152467566-152467642	GM10248	blood:	n/a	n/a
40	CTCF	chr7:152481660-152481810	BE2_C	brain:	n/a	n/a
41	CTCF	chr7:152481640-152481790	WERI-Rb-1	eye:	n/a	n/a
42	CTCF	chr7:152481730-152481879	HepG2	liver:	n/a	n/a
43	CTCF	chr7:152486389-152486410	LNCaP	prostate:	n/a	n/a
44	CTCF	chr7:152481640-152481790	K562	blood:	n/a	n/a
45	CTCF	chr7:152465192-152465207	GM13976	blood:	n/a	n/a
46	CTCF	chr7:152481660-152481810	HBMEC	blood vessel:	n/a	n/a
47	CTCF	chr7:152481698-152481893	MCF-7	breast:	n/a	n/a
48	CTCF	chr7:152495105-152495156	Medullo	brain:	n/a	n/a
49	CTCF	chr7:152481745-152481866	GM12892	blood:	n/a	n/a
50	CTCF	chr7:152481723-152481878	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:152457650..152460498-chr7:152461318..152464362,6	K562	blood:
2	chr7:152456008..152458414-chr7:152480235..152483869,3	K562	blood:
3	chr7:152456835..152459288-chr7:152471210..152473847,3	K562	blood:

Variant related genes	Relation type
ACTR3B	TF binding region
ENSG00000133627	chromatin interactions

Extended variants
information (count: 1397 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1397 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189384315	chr7:152463184-152463185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181790351	chr7:152463195-152463196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200031258	chr7:152463211-152463212	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs2462115	chr7:152463284-152463285	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs555529236	chr7:152463296-152463297	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs567806519	chr7:152463331-152463332	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs538506572	chr7:152463332-152463333	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs150322907	chr7:152463372-152463373	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs556547483	chr7:152463380-152463381	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs2462114	chr7:152463411-152463412	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs545770913	chr7:152463447-152463448	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs557797969	chr7:152463451-152463452	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs115903040	chr7:152463466-152463467	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs2948954	chr7:152463467-152463468	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs115323412	chr7:152463471-152463472	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs561899174	chr7:152463508-152463509	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs565178946	chr7:152463527-152463528	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs529111013	chr7:152463552-152463553	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs146707428	chr7:152463562-152463563	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs2462113	chr7:152463577-152463578	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs533059308	chr7:152463642-152463643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551320088	chr7:152463658-152463659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566565601	chr7:152463702-152463703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527775120	chr7:152463771-152463772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577006892	chr7:152463858-152463859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541353350	chr7:152463898-152463899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549235101	chr7:152463926-152463927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567830209	chr7:152463948-152463949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368931007	chr7:152463967-152463968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144699540	chr7:152463975-152463976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550355667	chr7:152463995-152463996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571809868	chr7:152464015-152464016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539383469	chr7:152464031-152464032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186165342	chr7:152464061-152464062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188283029	chr7:152464063-152464064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs180829901	chr7:152464069-152464070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148085346	chr7:152464098-152464099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201559615	chr7:152464179-152464180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576477649	chr7:152464180-152464181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200772353	chr7:152464186-152464187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530476252	chr7:152464193-152464194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs59830659	chr7:152464194-152464195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555135697	chr7:152464209-152464210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573702066	chr7:152464268-152464269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544030415	chr7:152464273-152464274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186363052	chr7:152464320-152464321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577503279	chr7:152464345-152464346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544947139	chr7:152464354-152464355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146020162	chr7:152464391-152464392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144109456	chr7:152464433-152464434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Ovarian cancer	21720365	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Nasopharyngeal cancer	20548289	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152457800-152471000	Weak transcription	Gastric	stomach
2	chr7:152458400-152463200	Weak transcription	Adipose Nuclei	Adipose
3	chr7:152458400-152463400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:152458400-152466600	Weak transcription	Right Atrium	heart
5	chr7:152458800-152468200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:152459000-152463200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr7:152459200-152463200	Weak transcription	Left Ventricle	heart
8	chr7:152459200-152463200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr7:152459200-152466200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:152459200-152472000	Weak transcription	K562	blood
11	chr7:152459400-152463200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr7:152459400-152463200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:152459400-152463200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:152459400-152471600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr7:152459400-152472000	Weak transcription	GM12878-XiMat	blood
16	chr7:152459600-152463200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr7:152459800-152463200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:152459800-152463200	Weak transcription	Brain Angular Gyrus	brain
19	chr7:152462800-152463200	Enhancers	Brain Anterior Caudate	brain
20	chr7:152462800-152463200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr7:152462800-152463600	Enhancers	Fetal Brain Female	brain
22	chr7:152462800-152463600	Enhancers	HUVEC	blood vessel
23	chr7:152463000-152467400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr7:152463200-152463600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:152463200-152463600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr7:152463200-152463600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr7:152463200-152463600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:152463200-152463600	Enhancers	Adipose Nuclei	Adipose
29	chr7:152463200-152463600	Enhancers	Brain Angular Gyrus	brain
30	chr7:152463200-152463600	Active TSS	Brain Anterior Caudate	brain
31	chr7:152463200-152463600	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr7:152463200-152463600	Enhancers	Brain Substantia Nigra	brain
33	chr7:152463200-152463600	Enhancers	Left Ventricle	heart
34	chr7:152463200-152463600	Enhancers	Lung	lung
35	chr7:152463200-152463600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr7:152463200-152463600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr7:152463200-152463600	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr7:152463600-152463800	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr7:152463600-152467800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:152463600-152467800	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr7:152463600-152468200	Weak transcription	Fetal Brain Female	brain
42	chr7:152465000-152483400	Weak transcription	HSMMtube	muscle
43	chr7:152466200-152466400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr7:152467400-152468600	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr7:152467800-152468600	Enhancers	Primary B cells from peripheral blood	blood
46	chr7:152467800-152468600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:152467800-152468600	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr7:152468200-152468400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:152468200-152468400	Enhancers	Fetal Brain Female	brain
50	chr7:152468200-152468400	Enhancers	HepG2	liver

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