Variant report

Variant	esv3405821
Chromosome Location	chr4:69807613-69808911
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539272483	chr4:69807646-69807647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554054699	chr4:69807647-69807648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573768010	chr4:69807673-69807674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72637839	chr4:69807680-69807681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542589467	chr4:69807716-69807717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144638288	chr4:69807754-69807755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533479656	chr4:69807783-69807784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186485712	chr4:69807788-69807789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550051643	chr4:69807795-69807796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201387277	chr4:69807797-69807798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191282892	chr4:69807811-69807812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11935894	chr4:69807820-69807821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs184862419	chr4:69807946-69807947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547087660	chr4:69807949-69807950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547988331	chr4:69807964-69807965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566764527	chr4:69807996-69807997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529477123	chr4:69808016-69808017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145503213	chr4:69808031-69808032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200817541	chr4:69808035-69808036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569557846	chr4:69808037-69808038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368382459	chr4:69808038-69808039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568112720	chr4:69808053-69808054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114959025	chr4:69808055-69808056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs3071533	chr4:69808056-69808057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11935123	chr4:69808057-69808058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188138596	chr4:69808059-69808060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193077760	chr4:69808067-69808068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13148179	chr4:69808095-69808096	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs185275100	chr4:69808096-69808097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539694127	chr4:69808119-69808120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373354299	chr4:69808133-69808134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556049684	chr4:69808146-69808147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71880091	chr4:69808223-69808224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13435095	chr4:69808238-69808239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200744613	chr4:69808240-69808241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs60007609	chr4:69808257-69808258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7681526	chr4:69808258-69808259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576294103	chr4:69808295-69808296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192388930	chr4:69808355-69808356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13132528	chr4:69808408-69808409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs571698238	chr4:69808440-69808441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576315567	chr4:69808483-69808484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561018830	chr4:69808544-69808545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77808707	chr4:69808546-69808547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549570927	chr4:69808582-69808583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375666034	chr4:69808628-69808629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532088514	chr4:69808654-69808655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184931772	chr4:69808673-69808674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571700949	chr4:69808689-69808690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534161605	chr4:69808701-69808702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
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
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	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
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69792400-69812600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:69794600-69809400	Weak transcription	Pancreas	Pancrea
3	chr4:69796400-69814400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr4:69796600-69813800	Weak transcription	Liver	Liver
5	chr4:69804400-69809400	Weak transcription	HepG2	liver
6	chr4:69806000-69809400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:69807000-69812600	Weak transcription	Fetal Intestine Small	intestine
8	chr4:69807400-69809200	Weak transcription	Fetal Intestine Large	intestine
9	chr4:69807400-69812200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr4:69808600-69819600	Weak transcription	Small Intestine	intestine

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