Variant report

Variant	esv20975
Chromosome Location	chr4:187987822-187988467
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	chr4:187987739..187989795-chr4:187999500..188002033,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111563922	chr4:187987824-187987825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560804738	chr4:187987826-187987827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs56336297	chr4:187987833-187987834	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs540257223	chr4:187987841-187987842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577305281	chr4:187987872-187987873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550830277	chr4:187987893-187987894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs56017822	chr4:187987901-187987902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62346683	chr4:187987904-187987905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367555597	chr4:187987909-187987910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34935943	chr4:187987911-187987912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567727551	chr4:187987922-187987923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536495200	chr4:187987934-187987935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553525301	chr4:187987962-187987963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566913359	chr4:187987966-187987967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4862761	chr4:187987982-187987983	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs4862760	chr4:187987987-187987988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4862762	chr4:187987989-187987990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559263956	chr4:187988027-187988028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56123636	chr4:187988058-187988059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113783447	chr4:187988065-187988066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13123019	chr4:187988078-187988079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575325726	chr4:187988081-187988082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544208400	chr4:187988109-187988110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554393876	chr4:187988175-187988176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574471338	chr4:187988216-187988217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540093976	chr4:187988217-187988218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13124027	chr4:187988221-187988222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560304189	chr4:187988255-187988256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35879642	chr4:187988299-187988300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4862763	chr4:187988312-187988313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532148288	chr4:187988364-187988365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545709164	chr4:187988396-187988397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562427396	chr4:187988426-187988427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530842859	chr4:187988448-187988449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550952451	chr4:187988451-187988452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561269425	chr4:187988456-187988457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	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
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
Oral cancer	21386901	CNVD
Pancreatic cancer	17952125	CNVD
Oral cancer	17325662	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187982000-187991800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:187982000-187995200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:187985800-187990600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:187986600-187991800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr4:187987000-187993000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr4:187987200-187990600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:187987400-187990600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr4:187987400-187990600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:187987400-187990600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr4:187987600-187991800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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