Variant report

Variant	nsv597966
Chromosome Location	chr5:45192314-45205747
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	chr16:3076387..3078714-chr5:45193841..45195630,2	MCF-7	breast:

Extended variants
information (count: 260 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369389834	chr5:45192314-45192315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543120642	chr5:45192356-45192357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115380899	chr5:45192379-45192380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140164794	chr5:45192413-45192414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540825398	chr5:45192432-45192433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150356725	chr5:45192460-45192461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533103238	chr5:45192482-45192483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543289266	chr5:45192536-45192537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372967422	chr5:45192554-45192555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562976572	chr5:45192589-45192590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368502959	chr5:45192606-45192607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138024988	chr5:45192627-45192628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542361999	chr5:45192676-45192677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114338967	chr5:45192700-45192701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557429855	chr5:45192724-45192725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191244678	chr5:45192797-45192798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565593024	chr5:45192825-45192826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116451824	chr5:45192828-45192829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184870215	chr5:45192851-45192852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571869604	chr5:45192874-45192875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111800202	chr5:45192892-45192893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537770926	chr5:45192910-45192911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557673234	chr5:45192935-45192936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567683668	chr5:45192992-45192993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536203202	chr5:45193001-45193002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553438731	chr5:45193010-45193011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189717004	chr5:45193028-45193029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573294379	chr5:45193031-45193032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181867519	chr5:45193033-45193034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539886919	chr5:45193065-45193066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557559156	chr5:45193091-45193092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564814875	chr5:45193130-45193131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576761441	chr5:45193161-45193162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186888264	chr5:45193258-45193259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543329867	chr5:45193263-45193264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189496361	chr5:45193266-45193267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528886303	chr5:45193358-45193359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181853941	chr5:45193360-45193361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559294966	chr5:45193363-45193364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142701335	chr5:45193375-45193376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12514414	chr5:45195001-45195002	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs544302768	chr5:45195011-45195012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs180777323	chr5:45195017-45195018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs111663692	chr5:45195078-45195079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73099414	chr5:45195080-45195081	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs115282261	chr5:45195113-45195114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141820060	chr5:45195218-45195219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186408223	chr5:45195258-45195259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191362571	chr5:45195285-45195286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183555131	chr5:45195302-45195303	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45182400-45192400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr5:45184400-45192600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:45192400-45193200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr5:45192400-45193400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:45192400-45193400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr5:45192600-45193400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:45195000-45195800	Enhancers	Brain Germinal Matrix	brain
8	chr5:45195200-45195600	Enhancers	Fetal Brain Female	brain
9	chr5:45200000-45205600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:45204000-45204400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr5:45204200-45204400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:45204400-45204600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr5:45204400-45204600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
14	chr5:45204600-45204800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:45204600-45205400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr5:45204600-45205600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr5:45204800-45205000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr5:45204800-45205600	Enhancers	H9 Cell Line	embryonic stem cell
19	chr5:45204800-45205800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr5:45205000-45206600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr5:45205400-45205600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr5:45205400-45205600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:45205400-45206200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:45205400-45206600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr5:45205600-45206000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:45205600-45206200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr5:45205600-45206400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr5:45205600-45206600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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