Variant report

Variant	nsv900340
Chromosome Location	chr13:64817519-64890976
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:64862774..64864824-chr13:64866758..64868899,2	MCF-7	breast:
2	chr13:64858043..64860843-chr13:64861855..64863663,2	K562	blood:
3	chr13:64862774..64864824-chr13:64866758..64868899,2	MCF-7	breast:
4	chr13:64858043..64860843-chr13:64861855..64863663,2	K562	blood:

Extended variants
information (count: 639 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:639 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12583158	chr13:64817519-64817520	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188644261	chr13:64817520-64817521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546861983	chr13:64817550-64817551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571636544	chr13:64817604-64817605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568188781	chr13:64817623-64817624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538831995	chr13:64817710-64817711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368168691	chr13:64817815-64817816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150530717	chr13:64817873-64817874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569248726	chr13:64817887-64817888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536701926	chr13:64817935-64817936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139488534	chr13:64817942-64817943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181752054	chr13:64817943-64817944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534203610	chr13:64817948-64817949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149664727	chr13:64817959-64817960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577253273	chr13:64817973-64817974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78167589	chr13:64817985-64817986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186021046	chr13:64818015-64818016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574557626	chr13:64818071-64818072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144846444	chr13:64818106-64818107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560013175	chr13:64818107-64818108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553906292	chr13:64818129-64818130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201198508	chr13:64818131-64818132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555161137	chr13:64818223-64818224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs59834200	chr13:64818281-64818282	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs10507703	chr13:64818335-64818336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs148574571	chr13:64818353-64818354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192454066	chr13:64818408-64818409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565034364	chr13:64818428-64818429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183956411	chr13:64818431-64818432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558405667	chr13:64818450-64818451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35346253	chr13:64818462-64818463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569391907	chr13:64818483-64818484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187266976	chr13:64818499-64818500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543834513	chr13:64818506-64818507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536458724	chr13:64818519-64818520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542190653	chr13:64818522-64818523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566876983	chr13:64818538-64818539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534166225	chr13:64818609-64818610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73199359	chr13:64818639-64818640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561961693	chr13:64818668-64818669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs117083943	chr13:64818672-64818673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538100184	chr13:64818734-64818735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs17083489	chr13:64818741-64818742	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs75527084	chr13:64818746-64818747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190786664	chr13:64818760-64818761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370104846	chr13:64818765-64818766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560178157	chr13:64818786-64818787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs80347411	chr13:64818790-64818791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545391450	chr13:64818810-64818811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145569562	chr13:64818821-64818822	Weak transcription	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	22037309	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64815600-64821800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr13:64817400-64817600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:64817600-64821800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr13:64821800-64822600	Enhancers	Placenta Amnion	Placenta Amnion
5	chr13:64822000-64823200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr13:64822200-64823200	Enhancers	HSMM	muscle
7	chr13:64822600-64823200	Enhancers	HSMMtube	muscle
8	chr13:64822600-64823400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr13:64823400-64824400	Enhancers	Placenta Amnion	Placenta Amnion
10	chr13:64837000-64838600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:64837600-64838200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
12	chr13:64837600-64838200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr13:64838200-64839800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr13:64846600-64847000	Enhancers	Placenta Amnion	Placenta Amnion
15	chr13:64848800-64849000	Enhancers	Placenta Amnion	Placenta Amnion
16	chr13:64852400-64854600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr13:64852600-64853000	Enhancers	HUVEC	blood vessel
18	chr13:64852600-64853200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr13:64853000-64853600	Enhancers	NH-A	brain
20	chr13:64863800-64864200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr13:64866000-64866400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr13:64867800-64868600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr13:64870600-64870800	Enhancers	HUVEC	blood vessel
24	chr13:64870800-64871600	Active TSS	HUVEC	blood vessel
25	chr13:64879200-64879600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr13:64888400-64889200	Enhancers	Muscle Satellite Cultured Cells	--

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