Variant report

Variant	nsv976241
Chromosome Location	chr13:64243039-64254012
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 185 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:185 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552485918	chr13:64243077-64243078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570503830	chr13:64243083-64243084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73500796	chr13:64243094-64243095	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs553621422	chr13:64243121-64243122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1443960	chr13:64243174-64243175	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536872667	chr13:64243177-64243178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554890222	chr13:64243180-64243181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567035816	chr13:64243234-64243235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192801095	chr13:64243264-64243265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35272428	chr13:64243267-64243268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558818947	chr13:64243272-64243273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576832871	chr13:64243449-64243450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544162106	chr13:64243511-64243512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556256862	chr13:64243522-64243523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563176436	chr13:64243557-64243558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574813000	chr13:64243569-64243570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112790343	chr13:64243606-64243607	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs542288012	chr13:64243622-64243623	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs201782965	chr13:64243653-64243654	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs138786335	chr13:64243713-64243714	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs546167891	chr13:64243779-64243780	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs184348513	chr13:64243848-64243849	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs561883248	chr13:64243855-64243856	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs575351654	chr13:64243856-64243857	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs9570976	chr13:64243870-64243871	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs372162663	chr13:64243897-64243898	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs549773852	chr13:64243990-64243991	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs117595685	chr13:64244006-64244007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376850069	chr13:64244037-64244038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189845797	chr13:64244090-64244091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141121154	chr13:64244094-64244095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150176996	chr13:64244146-64244147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12868397	chr13:64244241-64244242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9570977	chr13:64244243-64244244	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs558834743	chr13:64244270-64244271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs117152452	chr13:64244283-64244284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112097640	chr13:64244290-64244291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556311358	chr13:64244331-64244332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148300662	chr13:64244375-64244376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184383387	chr13:64245206-64245207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79160639	chr13:64245228-64245229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143475372	chr13:64245268-64245269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114116251	chr13:64245280-64245281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532472985	chr13:64245282-64245283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373326296	chr13:64245294-64245295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553420647	chr13:64245322-64245323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188822675	chr13:64245341-64245342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561969041	chr13:64245372-64245373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376755363	chr13:64245381-64245382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550467776	chr13:64245492-64245493	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64242800-64243600	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr13:64243200-64244000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr13:64243400-64244000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr13:64243600-64244000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr13:64243600-64244000	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr13:64243600-64244400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr13:64245200-64247400	Enhancers	Fetal Lung	lung
8	chr13:64251800-64252000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr13:64252000-64253200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr13:64253000-64253200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr13:64253200-64253400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr13:64253200-64254200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr13:64253200-64254800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr13:64253400-64254600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr13:64253600-64254600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr13:64253800-64255000	Enhancers	HUES64 Cell Line	embryonic stem cell

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