Variant report

Variant	esv3438959
Chromosome Location	chr4:3618104-3620402
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182005670	chr4:3618110-3618111	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs545849587	chr4:3618123-3618124	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs556498682	chr4:3618134-3618135	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs140623964	chr4:3618193-3618194	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs28628796	chr4:3618194-3618195	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs114352899	chr4:3618287-3618288	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs186297778	chr4:3618288-3618289	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs540143998	chr4:3618328-3618329	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs560151203	chr4:3618365-3618366	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs189143500	chr4:3618366-3618367	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs28449710	chr4:3618384-3618385	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs11429381	chr4:3618401-3618402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551921988	chr4:3618424-3618425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370626341	chr4:3618447-3618448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143804298	chr4:3618503-3618504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs60508104	chr4:3618525-3618526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560687446	chr4:3618572-3618573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531481680	chr4:3618587-3618588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548824766	chr4:3618594-3618595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141146548	chr4:3618616-3618617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574765029	chr4:3618652-3618653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575613331	chr4:3618666-3618667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112946341	chr4:3618667-3618668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540877492	chr4:3618678-3618679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs5855799	chr4:3618679-3618680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568681101	chr4:3618689-3618690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4259009	chr4:3618694-3618695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs5855798	chr4:3618727-3618728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534356397	chr4:3618728-3618729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557185998	chr4:3618736-3618737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147239079	chr4:3618760-3618761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571085238	chr4:3618761-3618762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs5855797	chr4:3618781-3618782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140803897	chr4:3618785-3618786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540110390	chr4:3618792-3618793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565563598	chr4:3618795-3618796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532703901	chr4:3618800-3618801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10937899	chr4:3618809-3618810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535554821	chr4:3618843-3618844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74544288	chr4:3618852-3618853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374610444	chr4:3618859-3618860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200140293	chr4:3618883-3618884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs115774726	chr4:3618886-3618887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368430941	chr4:3618895-3618896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530352001	chr4:3618902-3618903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10937900	chr4:3618920-3618921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76075794	chr4:3618921-3618922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs115853015	chr4:3618940-3618941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs151091529	chr4:3618967-3618968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10937901	chr4:3618975-3618976	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	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
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3615600-3619600	Enhancers	Fetal Brain Male	brain
2	chr4:3616600-3618200	Weak transcription	Brain Germinal Matrix	brain
3	chr4:3617000-3618400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:3617400-3618400	Bivalent Enhancer	Fetal Stomach	stomach
5	chr4:3617600-3618400	Enhancers	Fetal Brain Female	brain
6	chr4:3618200-3618400	Enhancers	Brain Germinal Matrix	brain

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