Variant report

Variant	esv3408731
Chromosome Location	chr4:18612529-18615227
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 137 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568186604	chr4:18612537-18612538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79924997	chr4:18612553-18612554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547383585	chr4:18612566-18612567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565791744	chr4:18612571-18612572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12498461	chr4:18612572-18612573	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs140703806	chr4:18612583-18612584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113382580	chr4:18612586-18612587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573886293	chr4:18612609-18612610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539366366	chr4:18612635-18612636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536874736	chr4:18612660-18612661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182196303	chr4:18612742-18612743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75300113	chr4:18612752-18612753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562646787	chr4:18612758-18612759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187193516	chr4:18612834-18612835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74908641	chr4:18612836-18612837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191608343	chr4:18612839-18612840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545705706	chr4:18612890-18612891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10939805	chr4:18612892-18612893	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs531101784	chr4:18612909-18612910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138403375	chr4:18612968-18612969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183017574	chr4:18612973-18612974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528990956	chr4:18612976-18612977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547223796	chr4:18613001-18613002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551857349	chr4:18613080-18613081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185849461	chr4:18613108-18613109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565662412	chr4:18613137-18613138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532823799	chr4:18613153-18613154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190210950	chr4:18613165-18613166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199664701	chr4:18613193-18613194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182473910	chr4:18613203-18613204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112145175	chr4:18613204-18613205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569639600	chr4:18613212-18613213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112178396	chr4:18613227-18613228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112894787	chr4:18613238-18613239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112539330	chr4:18613264-18613265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377390012	chr4:18613277-18613278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138004093	chr4:18613279-18613280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368932971	chr4:18613281-18613282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374774849	chr4:18613286-18613287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573924046	chr4:18613288-18613289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368076923	chr4:18613290-18613291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs111519050	chr4:18613300-18613301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373714312	chr4:18613319-18613320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532777517	chr4:18613335-18613336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536817912	chr4:18613336-18613337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567932176	chr4:18613345-18613346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530587354	chr4:18613348-18613349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370872256	chr4:18613353-18613354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536572229	chr4:18613362-18613363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372209234	chr4:18613443-18613444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	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
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
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:18611000-18619000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:18612600-18613200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr4:18612600-18613400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:18612800-18613200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:18613200-18614400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr4:18613200-18614800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:18613400-18614800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr4:18614400-18615600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr4:18614800-18615000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:18614800-18616000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:18615000-18615400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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