Variant report

Variant	esv1800516
Chromosome Location	chr5:45182131-45193745
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	chr5:45189744..45191464-chr5:45191625..45193258,2	MCF-7	breast:
2	chr5:45189744..45191464-chr5:45191625..45193258,2	MCF-7	breast:

Extended variants
information (count: 424 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:424 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7711528	chr5:45182131-45182132	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181218042	chr5:45182138-45182139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185537328	chr5:45182208-45182209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529694862	chr5:45182246-45182247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190644228	chr5:45182271-45182272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139513218	chr5:45182304-45182305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532766276	chr5:45182347-45182348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113948962	chr5:45182354-45182355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372055229	chr5:45182403-45182404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569545496	chr5:45182440-45182441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113813573	chr5:45182448-45182449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376611307	chr5:45182449-45182450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568150463	chr5:45182450-45182451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140633740	chr5:45182655-45182656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368542456	chr5:45182675-45182676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149739686	chr5:45182678-45182679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182933056	chr5:45182682-45182683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs207466004	chr5:45182726-45182727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538834917	chr5:45182793-45182794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376075498	chr5:45182803-45182804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs72205356	chr5:45182804-45182805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145745680	chr5:45182811-45182812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs398108893	chr5:45182813-45182814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs57934550	chr5:45182844-45182845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs71000624	chr5:45182847-45182848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558510101	chr5:45182963-45182964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575389626	chr5:45182996-45182997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145730197	chr5:45183005-45183006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543310092	chr5:45183014-45183015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189115926	chr5:45183018-45183019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552925771	chr5:45183021-45183022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561283730	chr5:45183025-45183026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574503501	chr5:45183027-45183028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148507026	chr5:45183029-45183030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191894308	chr5:45183057-45183058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576823607	chr5:45183095-45183096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369209238	chr5:45183133-45183134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564835880	chr5:45183138-45183139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562987211	chr5:45183141-45183142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs36000907	chr5:45183148-45183149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4357042	chr5:45183169-45183170	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs562014782	chr5:45183211-45183212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142745561	chr5:45183239-45183240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547344379	chr5:45183248-45183249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183036001	chr5:45183259-45183260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530669176	chr5:45183283-45183284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539592791	chr5:45183289-45183290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112554126	chr5:45183300-45183301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568993546	chr5:45183315-45183316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141279016	chr5:45183320-45183321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45181000-45182400	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr5:45181400-45182800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:45181600-45182200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr5:45181600-45182200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr5:45181600-45182400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:45181600-45182400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:45181600-45182400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr5:45181800-45183400	Enhancers	Fetal Heart	heart
9	chr5:45182000-45182400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:45182000-45182400	Enhancers	H9 Cell Line	embryonic stem cell
11	chr5:45182400-45192400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:45182800-45184000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:45183000-45183600	Enhancers	Fetal Stomach	stomach
14	chr5:45183000-45184000	Enhancers	Adipose Nuclei	Adipose
15	chr5:45184000-45184400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr5:45184400-45192600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr5:45189200-45189400	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr5:45189600-45190000	Enhancers	Liver	Liver
19	chr5:45192400-45193200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr5:45192400-45193400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr5:45192400-45193400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr5:45192600-45193400	Enhancers	HUES64 Cell Line	embryonic stem cell

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