Variant report

Variant	esv3401076
Chromosome Location	chr4:31013626-31015193
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187096262	chr4:31013648-31013649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550258672	chr4:31013670-31013671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537995559	chr4:31013705-31013706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191901237	chr4:31013753-31013754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184372721	chr4:31013766-31013767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79154528	chr4:31013787-31013788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566413661	chr4:31013860-31013861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536926154	chr4:31013987-31013988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555275548	chr4:31013994-31013995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187733424	chr4:31014006-31014007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537394737	chr4:31014011-31014012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556268071	chr4:31014040-31014041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs193299995	chr4:31014062-31014063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545223451	chr4:31014111-31014112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553527961	chr4:31014146-31014147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571879673	chr4:31014150-31014151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542530477	chr4:31014179-31014180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560811056	chr4:31014181-31014182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531600051	chr4:31014231-31014232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548588490	chr4:31014243-31014244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543450071	chr4:31014260-31014261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568428889	chr4:31014261-31014262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532487058	chr4:31014278-31014279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547999093	chr4:31014280-31014281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184230556	chr4:31014289-31014290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373412749	chr4:31014297-31014298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373535137	chr4:31014305-31014306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73113470	chr4:31014441-31014442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs560361522	chr4:31014528-31014529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189590548	chr4:31014574-31014575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554513964	chr4:31014605-31014606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537884829	chr4:31014632-31014633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555869900	chr4:31014635-31014636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571347075	chr4:31014641-31014642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542079921	chr4:31014691-31014692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538376057	chr4:31014710-31014711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553415661	chr4:31014713-31014714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149073921	chr4:31014769-31014770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373015471	chr4:31014805-31014806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs180921788	chr4:31014845-31014846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576248572	chr4:31014869-31014870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144828871	chr4:31014877-31014878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs58441575	chr4:31014912-31014913	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs77501988	chr4:31014922-31014923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562061828	chr4:31014992-31014993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571921820	chr4:31015008-31015009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184047265	chr4:31015019-31015020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373762688	chr4:31015023-31015024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576560809	chr4:31015037-31015038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559835906	chr4:31015064-31015065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
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
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Tetralogy of Fallot	22912587	CNVD
Renal cell carcinoma	18194544	CNVD
Colorectal cancer	16774939	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30998000-31018000	Weak transcription	Aorta	Aorta
2	chr4:31009400-31022000	Weak transcription	Fetal Stomach	stomach
3	chr4:31013000-31018000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr4:31013200-31015200	Weak transcription	Fetal Heart	heart

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