Variant report

Variant	esv3437109
Chromosome Location	chr4:59529795-59531043
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548035943	chr4:59529812-59529813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569838660	chr4:59529855-59529856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184006465	chr4:59529869-59529870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530269573	chr4:59529897-59529898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548496822	chr4:59529925-59529926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562138373	chr4:59529929-59529930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2202834	chr4:59529935-59529936	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs371852266	chr4:59530054-59530055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537529524	chr4:59530094-59530095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555864890	chr4:59530144-59530145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570880093	chr4:59530145-59530146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548916492	chr4:59530157-59530158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375206164	chr4:59530271-59530272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13106726	chr4:59530287-59530288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538269767	chr4:59530288-59530289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553992352	chr4:59530300-59530301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114932471	chr4:59530326-59530327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189186383	chr4:59530334-59530335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553259696	chr4:59530382-59530383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542954805	chr4:59530395-59530396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376847875	chr4:59530428-59530429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554794642	chr4:59530516-59530517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373017299	chr4:59530585-59530586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576334140	chr4:59530661-59530662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543908432	chr4:59530670-59530671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375042013	chr4:59530677-59530678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs180887152	chr4:59530693-59530694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112849544	chr4:59530694-59530695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559748198	chr4:59530701-59530702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530321035	chr4:59530707-59530708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577550078	chr4:59530709-59530710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538653082	chr4:59530710-59530711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548503590	chr4:59530737-59530738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148213535	chr4:59530740-59530741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575412873	chr4:59530769-59530770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549429984	chr4:59530773-59530774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368977389	chr4:59530793-59530794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538580386	chr4:59530834-59530835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373399961	chr4:59530855-59530856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185720322	chr4:59530878-59530879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190578246	chr4:59530924-59530925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73199110	chr4:59530959-59530960	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs536135114	chr4:59530960-59530961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554924710	chr4:59530978-59530979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200093078	chr4:59530980-59530981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77409001	chr4:59530993-59530994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114436918	chr4:59531031-59531032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	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
Multiple myeloma	16616336	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
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:59529400-59531000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:59531000-59531400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:59531000-59534600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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