Variant report

Variant	nsv900341
Chromosome Location	chr13:64828109-64926208
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	chr13:64858043..64860843-chr13:64861855..64863663,2	K562	blood:
4	chr13:64862774..64864824-chr13:64866758..64868899,2	MCF-7	breast:

Extended variants
information (count: 624 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:624 , 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	rs114997479	chr13:64837006-64837007	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs4556677	chr13:64837018-64837019	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs114856713	chr13:64837032-64837033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs532154804	chr13:64837137-64837138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs545273283	chr13:64837170-64837171	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs563672862	chr13:64837213-64837214	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs116509285	chr13:64837252-64837253	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs567858677	chr13:64837279-64837280	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs149616615	chr13:64837286-64837287	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs547095026	chr13:64837296-64837297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs571530161	chr13:64837308-64837309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs115967915	chr13:64837342-64837343	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs550886718	chr13:64837383-64837384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs569218637	chr13:64837384-64837385	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs536551277	chr13:64837388-64837389	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs146111215	chr13:64837392-64837393	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs573007670	chr13:64837410-64837411	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs138882139	chr13:64837420-64837421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs61949651	chr13:64837455-64837456	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs536551496	chr13:64837473-64837474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs78437657	chr13:64837489-64837490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs181743425	chr13:64837495-64837496	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs186000166	chr13:64837517-64837518	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs191161891	chr13:64837562-64837563	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs542931593	chr13:64837582-64837583	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs561298043	chr13:64837593-64837594	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs376362054	chr13:64837603-64837604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs146330950	chr13:64837635-64837636	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs9540015	chr13:64837657-64837658	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs373236587	chr13:64837674-64837675	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs541722889	chr13:64837681-64837682	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs532550002	chr13:64837685-64837686	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs550944043	chr13:64837695-64837696	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs374946848	chr13:64837715-64837716	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs182447680	chr13:64837716-64837717	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs368927724	chr13:64837719-64837720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs536515122	chr13:64837740-64837741	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs548485139	chr13:64837760-64837761	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs78020594	chr13:64837790-64837791	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs1934682	chr13:64837812-64837813	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs534026008	chr13:64837842-64837843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs559645674	chr13:64837844-64837845	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs187079181	chr13:64837845-64837846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs191037386	chr13:64837858-64837859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs148520921	chr13:64837860-64837861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs533616218	chr13:64837870-64837871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs555705527	chr13:64837896-64837897	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs574118449	chr13:64837927-64837928	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs182383645	chr13:64837997-64837998	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs561663361	chr13:64838039-64838040	ZNF genes & repeats	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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64837000-64838600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:64837600-64838200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
3	chr13:64837600-64838200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:64838200-64839800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr13:64846600-64847000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr13:64848800-64849000	Enhancers	Placenta Amnion	Placenta Amnion
7	chr13:64852400-64854600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr13:64852600-64853000	Enhancers	HUVEC	blood vessel
9	chr13:64852600-64853200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr13:64853000-64853600	Enhancers	NH-A	brain
11	chr13:64863800-64864200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr13:64866000-64866400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr13:64867800-64868600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr13:64870600-64870800	Enhancers	HUVEC	blood vessel
15	chr13:64870800-64871600	Active TSS	HUVEC	blood vessel
16	chr13:64879200-64879600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr13:64888400-64889200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr13:64894600-64895800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr13:64895000-64895400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr13:64895000-64895400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr13:64895200-64895600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr13:64906200-64907000	Enhancers	HSMM	muscle
23	chr13:64908400-64908600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr13:64912600-64914200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr13:64912800-64913600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr13:64912800-64914200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr13:64913000-64913600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr13:64913400-64914200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr13:64913600-64913800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr13:64913600-64913800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr13:64913800-64914200	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr13:64913800-64914400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr13:64914400-64914600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr13:64914600-64916400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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