Variant report

Variant	nsv1049069
Chromosome Location	chr13:66647914-66681970
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	chr13:66677587..66680337-chr13:66682446..66685267,2	K562	blood:
2	chr12:28240626..28241152-chr13:66662383..66662898,2	MCF-7	breast:

Extended variants
information (count: 433 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:433 , 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	rs17252389	chr13:66647914-66647915	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183868051	chr13:66647924-66647925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139207034	chr13:66647937-66647938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142514129	chr13:66647971-66647972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73512949	chr13:66647983-66647984	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs61338297	chr13:66648005-66648006	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs527844415	chr13:66648007-66648008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546730340	chr13:66648021-66648022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566603166	chr13:66648033-66648034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538723959	chr13:66648113-66648114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188450279	chr13:66648128-66648129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73201726	chr13:66648145-66648146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34393825	chr13:66648184-66648185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191816163	chr13:66648210-66648211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544237645	chr13:66648226-66648227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537754760	chr13:66648242-66648243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575719135	chr13:66648252-66648253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554810015	chr13:66648253-66648254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574307879	chr13:66648254-66648255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113603825	chr13:66648311-66648312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9571535	chr13:66648331-66648332	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs184428503	chr13:66648349-66648350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115771859	chr13:66648350-66648351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111799082	chr13:66648391-66648392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs75948564	chr13:66648409-66648410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576336884	chr13:66648432-66648433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542167674	chr13:66648439-66648440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116248181	chr13:66648444-66648445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375567557	chr13:66648459-66648460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548046683	chr13:66648481-66648482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564664427	chr13:66648564-66648565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532452333	chr13:66648566-66648567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145999980	chr13:66648593-66648594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74841201	chr13:66648595-66648596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77640027	chr13:66648613-66648614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537813375	chr13:66648667-66648668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372670760	chr13:66648670-66648671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375908410	chr13:66648671-66648672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34550393	chr13:66648672-66648673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201996025	chr13:66648674-66648675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75080008	chr13:66648690-66648691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9599065	chr13:66648702-66648703	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs139941874	chr13:66648753-66648754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9540627	chr13:66648778-66648779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs550598752	chr13:66648826-66648827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189356060	chr13:66648848-66648849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539551223	chr13:66648856-66648857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61956731	chr13:66648873-66648874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142213297	chr13:66648899-66648900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78064570	chr13:66648912-66648913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Intellectual disability	21811512	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	20877625	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:66647600-66648600	Enhancers	K562	blood
2	chr13:66648600-66651600	Weak transcription	K562	blood
3	chr13:66651600-66651800	Enhancers	K562	blood
4	chr13:66651800-66654000	Weak transcription	K562	blood
5	chr13:66654000-66654200	Enhancers	K562	blood
6	chr13:66660800-66662600	Enhancers	Fetal Kidney	kidney
7	chr13:66661400-66662000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:66661400-66662000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr13:66661400-66662400	Enhancers	Fetal Lung	lung
10	chr13:66666600-66667000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:66666800-66667000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr13:66666800-66667000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr13:66667000-66668600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr13:66668600-66668800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr13:66673200-66673600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:66673200-66673800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr13:66673400-66674000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr13:66677000-66677400	Enhancers	Muscle Satellite Cultured Cells	--

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