Variant report

Variant	esv3377712
Chromosome Location	chr5:12851477-12854325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:12853246..12855254-chr5:12857418..12860229,2	MCF-7	breast:

Extended variants
information (count: 123 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568128512	chr5:12851492-12851493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143338948	chr5:12851498-12851499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374637638	chr5:12851529-12851530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529368495	chr5:12851548-12851549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147964898	chr5:12851564-12851565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532333176	chr5:12851615-12851616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182524773	chr5:12851635-12851636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111503552	chr5:12851636-12851637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535333785	chr5:12851688-12851689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529685228	chr5:12851731-12851732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548179415	chr5:12851768-12851769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566587135	chr5:12851862-12851863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147041057	chr5:12851878-12851879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552807166	chr5:12851924-12851925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138270179	chr5:12851925-12851926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186848591	chr5:12851941-12851942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113013825	chr5:12851963-12851964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556610635	chr5:12851966-12851967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113744679	chr5:12851995-12851996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535475629	chr5:12851996-12851997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553712524	chr5:12851997-12851998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572212204	chr5:12852047-12852048	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs138796618	chr5:12852066-12852067	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs189729373	chr5:12852075-12852076	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs576997866	chr5:12852076-12852077	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs149522978	chr5:12852115-12852116	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs111389764	chr5:12852138-12852139	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs111249437	chr5:12852194-12852195	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs529981848	chr5:12852229-12852230	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs377017951	chr5:12852247-12852248	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs183490124	chr5:12852275-12852276	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs560143254	chr5:12852290-12852291	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs139979093	chr5:12852300-12852301	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs188701886	chr5:12852317-12852318	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs4072952	chr5:12852321-12852322	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs199905903	chr5:12852417-12852418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs5866006	chr5:12852418-12852419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141820920	chr5:12852457-12852458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146183449	chr5:12852473-12852474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs193204192	chr5:12852489-12852490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185192934	chr5:12852520-12852521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535708154	chr5:12852622-12852623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188509368	chr5:12852643-12852644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547685430	chr5:12852657-12852658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs367923880	chr5:12852667-12852668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112660374	chr5:12852668-12852669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191752600	chr5:12852671-12852672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143797816	chr5:12852691-12852692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554943689	chr5:12852704-12852705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139048361	chr5:12852712-12852713	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Bipolar disorder	19114987	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12847000-12851600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr5:12847200-12851800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:12851600-12852400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:12851800-12852000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:12851800-12852400	Enhancers	Primary hematopoietic stem cells	blood
6	chr5:12852000-12852400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:12852400-12853200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:12853200-12855800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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