Variant report

Variant	nsv964282
Chromosome Location	chr4:151527394-151534216
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:151527915..151530188-chr4:151535611..151537674,2	K562	blood:
2	chr4:151520682..151522323-chr4:151526143..151528322,2	K562	blood:
3	chr4:151512919..151514896-chr4:151526553..151529436,2	K562	blood:

Extended variants
information (count: 248 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:248 , 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	rs544060336	chr4:151527466-151527467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574809755	chr4:151527484-151527485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537027933	chr4:151527497-151527498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56112233	chr4:151527504-151527505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs58730186	chr4:151527509-151527510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577029792	chr4:151527547-151527548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148176987	chr4:151527548-151527549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79729861	chr4:151527568-151527569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113441149	chr4:151527594-151527595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572700912	chr4:151527602-151527603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555716860	chr4:151527681-151527682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541566661	chr4:151527738-151527739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561616356	chr4:151527758-151527759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530558860	chr4:151527774-151527775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186017525	chr4:151527782-151527783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574155289	chr4:151527817-151527818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541584061	chr4:151527853-151527854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562374446	chr4:151527862-151527863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190931911	chr4:151527941-151527942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532806643	chr4:151527952-151527953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552899414	chr4:151527956-151527957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34424647	chr4:151527958-151527959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11099769	chr4:151527963-151527964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs533421630	chr4:151527966-151527967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528679674	chr4:151527989-151527990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141134035	chr4:151528002-151528003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9997018	chr4:151528020-151528021	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs537469671	chr4:151528026-151528027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62344744	chr4:151528098-151528099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557033284	chr4:151528103-151528104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7655913	chr4:151528104-151528105	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs183127269	chr4:151528110-151528111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375992143	chr4:151528124-151528125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552840781	chr4:151528183-151528184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146189237	chr4:151528197-151528198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541604991	chr4:151528201-151528202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185650505	chr4:151528285-151528286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531522212	chr4:151528293-151528294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550029481	chr4:151528330-151528331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190806556	chr4:151528523-151528524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144047941	chr4:151528567-151528568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79937744	chr4:151528672-151528673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568211655	chr4:151528722-151528723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532945888	chr4:151528770-151528771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546552472	chr4:151528785-151528786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183042678	chr4:151528842-151528843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543881271	chr4:151528875-151528876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187378796	chr4:151528884-151528885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145982895	chr4:151528916-151528917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568549938	chr4:151528922-151528923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
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
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 cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151487200-151655000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr4:151497600-151535400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr4:151500000-151543400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr4:151501200-151559800	Weak transcription	Ovary	ovary
5	chr4:151505400-151542200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr4:151509800-151540200	Weak transcription	GM12878-XiMat	blood
7	chr4:151511000-151542800	Weak transcription	K562	blood
8	chr4:151512400-151556000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr4:151512800-151550800	Weak transcription	Fetal Intestine Small	intestine
10	chr4:151513200-151530400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:151520400-151540200	Weak transcription	Fetal Intestine Large	intestine
12	chr4:151520400-151541200	Weak transcription	Aorta	Aorta
13	chr4:151520400-151556200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr4:151520600-151529400	Weak transcription	Primary B cells from cord blood	blood
15	chr4:151520600-151530600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:151520600-151532000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr4:151520600-151533000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr4:151520600-151534800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:151520600-151538600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr4:151520600-151539600	Weak transcription	Left Ventricle	heart
21	chr4:151520600-151540400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr4:151520600-151540400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr4:151520600-151540400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr4:151520600-151540600	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr4:151520600-151540800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr4:151520600-151543200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr4:151520600-151553800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr4:151520800-151534600	Weak transcription	Primary T cells from cord blood	blood
29	chr4:151520800-151534800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr4:151522600-151539600	Weak transcription	Psoas Muscle	Psoas
31	chr4:151527000-151527400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr4:151529400-151531000	Strong transcription	Primary B cells from cord blood	blood
33	chr4:151530200-151530600	Enhancers	Brain Substantia Nigra	brain
34	chr4:151530200-151530800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:151530200-151531000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:151530600-151531000	Enhancers	Brain Hippocampus Middle	brain
37	chr4:151530600-151531400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr4:151531000-151553600	Weak transcription	Primary B cells from cord blood	blood
39	chr4:151531400-151533600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr4:151533000-151533400	Enhancers	Primary hematopoietic stem cells	blood
41	chr4:151533200-151533400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:151533400-151553800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:151533400-151596200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr4:151533600-151534000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:151534000-151537200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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