Variant report

Variant	esv3369490
Chromosome Location	chr4:76162578-76164776
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	chr4:76157900..76160186-chr4:76160189..76163164,2	MCF-7	breast:

Extended variants
information (count: 88 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539078674	chr4:76162578-76162579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6851300	chr4:76162653-76162654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs575680507	chr4:76162664-76162665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536764274	chr4:76162668-76162669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188740292	chr4:76162674-76162675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375045333	chr4:76162683-76162684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572701277	chr4:76162702-76162703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115354858	chr4:76162709-76162710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192958442	chr4:76162754-76162755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576722273	chr4:76162789-76162790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79393795	chr4:76162829-76162830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534837338	chr4:76162847-76162848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562491182	chr4:76162855-76162856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572852241	chr4:76162870-76162871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73825419	chr4:76162879-76162880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs559948069	chr4:76162916-76162917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528708291	chr4:76162920-76162921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547208000	chr4:76162928-76162929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184470508	chr4:76162940-76162941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539321272	chr4:76162959-76162960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541502438	chr4:76162982-76162983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72865552	chr4:76163006-76163007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs114131845	chr4:76163036-76163037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565162185	chr4:76163037-76163038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555054360	chr4:76163058-76163059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150517533	chr4:76163085-76163086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188862547	chr4:76163086-76163087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558307776	chr4:76163109-76163110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181088834	chr4:76163110-76163111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139455878	chr4:76163149-76163150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553542284	chr4:76163164-76163165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370205156	chr4:76163182-76163183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183833427	chr4:76163183-76163184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541422056	chr4:76163188-76163189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560333273	chr4:76163239-76163240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188155515	chr4:76163254-76163255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547246524	chr4:76163273-76163274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182482842	chr4:76163279-76163280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6858597	chr4:76163294-76163295	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs551256191	chr4:76163297-76163298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569407621	chr4:76163302-76163303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6535235	chr4:76163326-76163327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs548287210	chr4:76163337-76163338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566650584	chr4:76163396-76163397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199520736	chr4:76163446-76163447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149658203	chr4:76163452-76163453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6857874	chr4:76163500-76163501	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs570333920	chr4:76163524-76163525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147803854	chr4:76163545-76163546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187327954	chr4:76163558-76163559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20932292	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76158600-76164400	Weak transcription	Colon Smooth Muscle	Colon

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