Variant report

Variant	esv3420983
Chromosome Location	chr4:49040945-49042043
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574319446	chr4:49041005-49041006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541516340	chr4:49041029-49041030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559639428	chr4:49041061-49041062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192122361	chr4:49041068-49041069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34351676	chr4:49041095-49041096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533662692	chr4:49041101-49041102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10597102	chr4:49041106-49041107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201845228	chr4:49041112-49041113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535443343	chr4:49041114-49041115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367687079	chr4:49041115-49041116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545033457	chr4:49041121-49041122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183105570	chr4:49041129-49041130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35630298	chr4:49041152-49041153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34570616	chr4:49041175-49041176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188856182	chr4:49041203-49041204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149030418	chr4:49041321-49041322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71600797	chr4:49041323-49041324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199539831	chr4:49041336-49041337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200531157	chr4:49041337-49041338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71191284	chr4:49041350-49041351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376504522	chr4:49041351-49041352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72002796	chr4:49041353-49041354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538818434	chr4:49041356-49041357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370642338	chr4:49041367-49041368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72413048	chr4:49041369-49041370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72014834	chr4:49041370-49041371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10213151	chr4:49041386-49041387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373271808	chr4:49041395-49041396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs36177079	chr4:49041399-49041400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10682144	chr4:49041400-49041401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs386400034	chr4:49041409-49041410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs397758070	chr4:49041410-49041411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201711838	chr4:49041411-49041412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530688142	chr4:49041412-49041413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs36183064	chr4:49041448-49041449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs367658178	chr4:49041449-49041450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576648250	chr4:49041465-49041466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560730655	chr4:49041529-49041530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528295666	chr4:49041549-49041550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569213857	chr4:49041608-49041609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184293251	chr4:49041644-49041645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149632580	chr4:49041668-49041669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541138677	chr4:49041685-49041686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571293685	chr4:49041706-49041707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532239585	chr4:49041708-49041709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147319506	chr4:49041735-49041736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568889165	chr4:49041749-49041750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537727718	chr4:49041759-49041760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2768970	chr4:49041760-49041761	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs543175778	chr4:49041767-49041768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	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	22183965	CNVD
Cancer	22183965	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
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	16272173	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:49035400-49051000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:49035800-49052800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:49036800-49058800	Weak transcription	Rectal Mucosa Donor 29	rectum

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