Variant report

Variant	esv3408353
Chromosome Location	chr4:152991402-152996100
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:152994994..152996876-chr4:152998778..153001469,2	MCF-7	breast:
2	chr4:152994631..152998650-chr4:152999260..153001615,3	K562	blood:

Extended variants
information (count: 205 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:205 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570257612	chr4:152991407-152991408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115050112	chr4:152991421-152991422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186220270	chr4:152991438-152991439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72734214	chr4:152991464-152991465	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs376633383	chr4:152991485-152991486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs66776773	chr4:152991497-152991498	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs531325703	chr4:152991511-152991512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147394243	chr4:152991521-152991522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139707439	chr4:152991524-152991525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76350587	chr4:152991548-152991549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558280815	chr4:152991554-152991555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114207255	chr4:152991556-152991557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77572126	chr4:152991581-152991582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78429914	chr4:152991692-152991693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17028539	chr4:152991734-152991735	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs367627462	chr4:152991737-152991738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547760387	chr4:152991756-152991757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142688967	chr4:152991764-152991765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189884902	chr4:152991818-152991819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs151017947	chr4:152991820-152991821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs17028543	chr4:152991825-152991826	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs113191603	chr4:152991842-152991843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534225958	chr4:152991855-152991856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs72734217	chr4:152991900-152991901	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs185496434	chr4:152991923-152991924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567979828	chr4:152991943-152991944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116118349	chr4:152991985-152991986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553760730	chr4:152992064-152992065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140928478	chr4:152992065-152992066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539636153	chr4:152992067-152992068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557993916	chr4:152992094-152992095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545769995	chr4:152992111-152992112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543958721	chr4:152992123-152992124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149763487	chr4:152992129-152992130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115326588	chr4:152992130-152992131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146794511	chr4:152992150-152992151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113528454	chr4:152992158-152992159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533453272	chr4:152992174-152992175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140563596	chr4:152992175-152992176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563558576	chr4:152992177-152992178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145699064	chr4:152992244-152992245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549594449	chr4:152992265-152992266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs4696128	chr4:152992266-152992267	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs111687542	chr4:152992322-152992323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183529198	chr4:152992324-152992325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186885322	chr4:152992338-152992339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138404540	chr4:152992374-152992375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149203674	chr4:152992375-152992376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569884928	chr4:152992389-152992390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537279140	chr4:152992397-152992398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	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
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
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17588203	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152983800-153000800	Enhancers	Fetal Thymus	thymus
2	chr4:152985200-152993400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:152985200-152996200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr4:152985200-153000000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr4:152986600-152993200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:152986800-152998000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr4:152988800-152993600	Weak transcription	Right Atrium	heart
8	chr4:152989200-152992200	Enhancers	Primary T cells from cord blood	blood
9	chr4:152989400-153000400	Enhancers	Thymus	Thymus
10	chr4:152989600-152992400	Enhancers	Dnd41	blood
11	chr4:152990400-152995000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr4:152990400-152995200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr4:152990400-152997600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr4:152990400-152998600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr4:152990400-153000000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:152990600-152995000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr4:152990800-152992200	Enhancers	Stomach Mucosa	stomach
18	chr4:152990800-152996600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr4:152991200-152995000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr4:152991400-152992400	Enhancers	Fetal Intestine Large	intestine
21	chr4:152991800-152992200	Enhancers	HepG2	liver
22	chr4:152992200-152995400	Weak transcription	Primary T cells from cord blood	blood
23	chr4:152992400-152993600	Weak transcription	Dnd41	blood
24	chr4:152992800-152993400	Enhancers	HSMMtube	muscle
25	chr4:152992800-152994000	Enhancers	Right Ventricle	heart
26	chr4:152992800-152994600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:152992800-152995200	Enhancers	Left Ventricle	heart
28	chr4:152992800-152996200	Enhancers	Fetal Heart	heart
29	chr4:152993000-152993200	Enhancers	Lung	lung
30	chr4:152993000-152993400	Enhancers	HSMM	muscle
31	chr4:152993000-152993600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:152993000-152993800	Enhancers	Fetal Kidney	kidney
33	chr4:152993000-152996800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr4:152993200-152993600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:152993200-152993800	Enhancers	Brain Anterior Caudate	brain
36	chr4:152993200-152993800	Enhancers	Placenta Amnion	Placenta Amnion
37	chr4:152993200-152995200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:152993200-152995200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:152993400-152994400	Weak transcription	Lung	lung
40	chr4:152993400-152994600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:152993400-152995200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr4:152993600-152994200	Enhancers	Dnd41	blood
43	chr4:152993600-152994800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:152993600-152995000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr4:152993600-152995200	Enhancers	Right Atrium	heart
46	chr4:152993800-152995000	Weak transcription	Brain Anterior Caudate	brain
47	chr4:152994000-152995200	Enhancers	Fetal Muscle Trunk	muscle
48	chr4:152994000-152995400	Weak transcription	Right Ventricle	heart
49	chr4:152994000-152996400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr4:152994200-152995200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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