Variant report

Variant	esv3467416
Chromosome Location	chr4:147240635-147246173
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 182 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:182 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530438317	chr4:147240660-147240661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550241136	chr4:147240727-147240728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563985475	chr4:147240772-147240773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199796325	chr4:147240828-147240829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532415612	chr4:147240835-147240836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552141273	chr4:147240888-147240889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565843831	chr4:147241024-147241025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534745299	chr4:147241039-147241040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs57713263	chr4:147241049-147241050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs567317318	chr4:147241124-147241125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187075078	chr4:147241146-147241147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556215177	chr4:147241259-147241260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574757268	chr4:147241312-147241313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576403286	chr4:147241325-147241326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542007937	chr4:147241335-147241336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377146455	chr4:147241352-147241353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141380031	chr4:147241391-147241392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576346557	chr4:147241423-147241424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572175636	chr4:147241426-147241427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541100259	chr4:147241436-147241437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191937009	chr4:147241477-147241478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75942731	chr4:147241498-147241499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs151296023	chr4:147241512-147241513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140565037	chr4:147241546-147241547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112679925	chr4:147241565-147241566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150428252	chr4:147241570-147241571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563865163	chr4:147241579-147241580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114309499	chr4:147241581-147241582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552153488	chr4:147241586-147241587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116316018	chr4:147241618-147241619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185245447	chr4:147241659-147241660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528582419	chr4:147241675-147241676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548431055	chr4:147241702-147241703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568521302	chr4:147241744-147241745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536106275	chr4:147241758-147241759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373016353	chr4:147241759-147241760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138431913	chr4:147241760-147241761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569976927	chr4:147241762-147241763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538889321	chr4:147241846-147241847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560560346	chr4:147241860-147241861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143917345	chr4:147241865-147241866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560626973	chr4:147241891-147241892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572713217	chr4:147241892-147241893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377192910	chr4:147241899-147241900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539990452	chr4:147241946-147241947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574298162	chr4:147241953-147241954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79126109	chr4:147242010-147242011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534588815	chr4:147242026-147242027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35027186	chr4:147242064-147242065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190019589	chr4:147242092-147242093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21633010	CNVD
Breast cancer	20393555	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147201000-147249600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:147208200-147247000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr4:147208400-147249200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:147208400-147254600	Weak transcription	Gastric	stomach
5	chr4:147208600-147254800	Weak transcription	Adipose Nuclei	Adipose
6	chr4:147209200-147249000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:147209400-147245600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr4:147212800-147264200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr4:147215600-147254800	Weak transcription	Primary T cells from cord blood	blood
10	chr4:147225600-147245600	Weak transcription	Primary B cells from cord blood	blood
11	chr4:147229600-147257400	Weak transcription	Ovary	ovary
12	chr4:147230800-147244000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:147230800-147245600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:147233000-147255000	Weak transcription	Aorta	Aorta
15	chr4:147233200-147254400	Weak transcription	GM12878-XiMat	blood
16	chr4:147234600-147249000	Weak transcription	Lung	lung
17	chr4:147235200-147245600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:147235200-147249600	Weak transcription	Left Ventricle	heart
19	chr4:147237200-147245600	Weak transcription	Liver	Liver
20	chr4:147241800-147255200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr4:147241800-147284800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr4:147242800-147243000	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr4:147242800-147255000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr4:147243000-147255000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr4:147243200-147254800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr4:147243400-147245600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr4:147244000-147245600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr4:147244000-147251000	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr4:147244200-147255200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr4:147244400-147245600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr4:147244400-147247400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr4:147244600-147249600	Weak transcription	NH-A	brain
33	chr4:147245000-147245600	Weak transcription	HSMMtube	muscle
34	chr4:147245200-147249000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:147245200-147249400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:147245400-147245600	Weak transcription	HSMM	muscle
37	chr4:147245600-147245800	ZNF genes & repeats	HSMM	muscle
38	chr4:147245600-147245800	ZNF genes & repeats	HSMMtube	muscle
39	chr4:147245600-147246200	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr4:147245600-147246200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:147245600-147246200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:147245600-147246200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:147245600-147246200	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr4:147245600-147246400	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr4:147245600-147246400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr4:147245600-147246800	Strong transcription	Liver	Liver
47	chr4:147245600-147247400	Weak transcription	Small Intestine	intestine
48	chr4:147245800-147249200	Weak transcription	HSMM	muscle
49	chr4:147245800-147249400	Weak transcription	HSMMtube	muscle

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