Variant report

Variant	nsv980434
Chromosome Location	chr4:149300843-149308003
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	chr4:149300581..149303429-chr4:149304550..149306545,2	MCF-7	breast:
2	chr4:149300581..149303429-chr4:149304550..149306545,2	MCF-7	breast:

Extended variants
information (count: 274 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17024667	chr4:149300846-149300847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531794648	chr4:149300862-149300863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534497787	chr4:149300898-149300899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138368590	chr4:149300911-149300912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564985556	chr4:149300928-149300929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527430780	chr4:149300944-149300945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531127654	chr4:149300945-149300946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547349440	chr4:149300966-149300967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7691663	chr4:149300967-149300968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs571917541	chr4:149300984-149300985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375799460	chr4:149300985-149300986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149236407	chr4:149301001-149301002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182144971	chr4:149301006-149301007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533723386	chr4:149301018-149301019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569820969	chr4:149301143-149301144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561036396	chr4:149301150-149301151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549613835	chr4:149301192-149301193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369609348	chr4:149301194-149301195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558826648	chr4:149301196-149301197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188370754	chr4:149301212-149301213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191071450	chr4:149301231-149301232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534059807	chr4:149301260-149301261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145168347	chr4:149301268-149301269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111545633	chr4:149301310-149301311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573964253	chr4:149301359-149301360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138992169	chr4:149301375-149301376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115960642	chr4:149301384-149301385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576372049	chr4:149301427-149301428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556642995	chr4:149301445-149301446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543035982	chr4:149301450-149301451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565367891	chr4:149301463-149301464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527354287	chr4:149301506-149301507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183740266	chr4:149301516-149301517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11728254	chr4:149301579-149301580	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs201135095	chr4:149301630-149301631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115438674	chr4:149301706-149301707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551537005	chr4:149301733-149301734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188214423	chr4:149301771-149301772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368294891	chr4:149301778-149301779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532482253	chr4:149301787-149301788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552325888	chr4:149301791-149301792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs193257064	chr4:149301796-149301797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35714983	chr4:149301832-149301833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534261436	chr4:149301969-149301970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553980797	chr4:149301971-149301972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7698302	chr4:149301975-149301976	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs536239253	chr4:149302009-149302010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556175055	chr4:149302022-149302023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576308751	chr4:149302025-149302026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545316888	chr4:149302028-149302029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Epilepsy	22083797	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:149277000-149306800	Weak transcription	Pancreas	Pancrea
2	chr4:149292200-149315000	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:149297600-149304600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr4:149297800-149301400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr4:149297800-149306000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr4:149297800-149306000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr4:149297800-149306000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr4:149297800-149350000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr4:149298000-149301400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr4:149298400-149311600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr4:149299000-149306000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr4:149299000-149306800	Weak transcription	Psoas Muscle	Psoas
13	chr4:149299000-149329000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr4:149299200-149301200	Weak transcription	Fetal Heart	heart
15	chr4:149299200-149306200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr4:149299200-149307000	Weak transcription	Ovary	ovary
17	chr4:149299200-149318400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr4:149299800-149307200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr4:149300600-149310000	Weak transcription	Left Ventricle	heart
20	chr4:149300800-149301000	Weak transcription	Brain Hippocampus Middle	brain
21	chr4:149301200-149302000	Enhancers	Fetal Heart	heart
22	chr4:149301400-149301600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr4:149301400-149301800	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr4:149301400-149302000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr4:149304600-149305000	Enhancers	HepG2	liver
26	chr4:149306000-149306200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr4:149306000-149306200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr4:149306000-149306200	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr4:149306000-149306200	Enhancers	Rectal Smooth Muscle	rectum
30	chr4:149306000-149306200	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr4:149306000-149306600	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr4:149306000-149307000	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr4:149306200-149306400	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr4:149306200-149306600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr4:149306200-149307400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr4:149306200-149308200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr4:149306200-149309800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr4:149306200-149316600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr4:149306400-149307000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr4:149306600-149307600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr4:149306600-149313600	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr4:149306800-149307000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr4:149306800-149307200	Enhancers	Pancreas	Pancrea
44	chr4:149306800-149307200	Enhancers	Psoas Muscle	Psoas
45	chr4:149306800-149307600	Enhancers	Aorta	Aorta
46	chr4:149307000-149307200	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr4:149307000-149307400	Enhancers	Ovary	ovary
48	chr4:149307200-149307600	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr4:149307200-149307600	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr4:149307200-149314400	Weak transcription	Psoas Muscle	Psoas

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