Variant report

Variant	nsv1052183
Chromosome Location	chr13:64424127-64475455
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:64461452..64464035-chr13:64465171..64467980,2	K562	blood:
2	chr11:1968235..1969201-chr13:64430713..64431213,2	NB4	blood:
3	chr13:64461452..64464035-chr13:64465171..64467980,2	K562	blood:

Variant related genes	Relation type
ENSG00000214026	chromatin interactions

Extended variants
information (count: 507 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:507 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528621947	chr13:64429412-64429413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs9598632	chr13:64429455-64429456	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs565842799	chr13:64429472-64429473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190023261	chr13:64429495-64429496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535843139	chr13:64429520-64429521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146520086	chr13:64429631-64429632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139993223	chr13:64429693-64429694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533608393	chr13:64429713-64429714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377170114	chr13:64429732-64429733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569544493	chr13:64429752-64429753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553552123	chr13:64429762-64429763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569339716	chr13:64429780-64429781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs578091586	chr13:64429821-64429822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539351153	chr13:64429840-64429841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557358570	chr13:64429852-64429853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575640223	chr13:64429863-64429864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575858142	chr13:64429866-64429867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9888457	chr13:64429867-64429868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182526070	chr13:64429877-64429878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573399104	chr13:64429891-64429892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79146984	chr13:64429894-64429895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548424882	chr13:64429945-64429946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373050001	chr13:64429958-64429959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551938550	chr13:64430022-64430023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556065	chr13:64430033-64430034	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs140283224	chr13:64430067-64430068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150328153	chr13:64430097-64430098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562644340	chr13:64430102-64430103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188386402	chr13:64430148-64430149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534299275	chr13:64430184-64430185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146582506	chr13:64430190-64430191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377596932	chr13:64430191-64430192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76063859	chr13:64430202-64430203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75204079	chr13:64430232-64430233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551967056	chr13:64430260-64430261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571847972	chr13:64430273-64430274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538852913	chr13:64430312-64430313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557481011	chr13:64430386-64430387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192752699	chr13:64430387-64430388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536919952	chr13:64430393-64430394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555034197	chr13:64430413-64430414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183141543	chr13:64430446-64430447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540761730	chr13:64430554-64430555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188418294	chr13:64430597-64430598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577221199	chr13:64430632-64430633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76584132	chr13:64430697-64430698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76812389	chr13:64430717-64430718	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs370132670	chr13:64430752-64430753	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs544903071	chr13:64430767-64430768	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs562667475	chr13:64430791-64430792	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Breast cancer	22522925	CNVD
Melanoma	20688739	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64429400-64430200	Enhancers	HepG2	liver
2	chr13:64429600-64429800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:64429600-64430000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:64430000-64431000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:64430000-64431600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:64430000-64436000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr13:64431000-64433200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr13:64431600-64432400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:64432400-64438600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:64433200-64438800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:64434000-64434400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr13:64434200-64434600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr13:64434400-64434800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr13:64434600-64436000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr13:64438600-64440000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:64438800-64440200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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