Variant report

Variant	nsv1047916
Chromosome Location	chr13:64993852-65024851
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:64974547..64976925-chr13:65002244..65005182,2	K562	blood:
2	chr1:205155820..205156550-chr13:64995556..64996355,2	MCF-7	breast:
3	chr13:65020257..65021157-chr13:66212532..66213123,2	MCF-7	breast:

Extended variants
information (count: 487 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:487 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17086646	chr13:64993852-64993853	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550415117	chr13:64993871-64993872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181720257	chr13:64993916-64993917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531688391	chr13:64993919-64993920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550123969	chr13:64993920-64993921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561931032	chr13:64993939-64993940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142808555	chr13:64993949-64993950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563351688	chr13:64993963-64993964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542921525	chr13:64994012-64994013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375291046	chr13:64994020-64994021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565865371	chr13:64994109-64994110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530670542	chr13:64994123-64994124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9528759	chr13:64994153-64994154	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs149659101	chr13:64994175-64994176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371813972	chr13:64994196-64994197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11274815	chr13:64994202-64994203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375057525	chr13:64994218-64994219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186535195	chr13:64994245-64994246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34965553	chr13:64994248-64994249	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs76562755	chr13:64994275-64994276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76578505	chr13:64994285-64994286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9528760	chr13:64994305-64994306	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs189520354	chr13:64994307-64994308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554108082	chr13:64994320-64994321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78130509	chr13:64994323-64994324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9540083	chr13:64994338-64994339	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs564574665	chr13:64994350-64994351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369085930	chr13:64994427-64994428	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543875399	chr13:64994460-64994461	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35511710	chr13:64994645-64994646	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs547662018	chr13:64994646-64994647	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs559294636	chr13:64994663-64994664	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs181828153	chr13:64994700-64994701	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs35199816	chr13:64994710-64994711	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs569446350	chr13:64994724-64994725	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs571271241	chr13:64994746-64994747	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs548614354	chr13:64994758-64994759	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs566911466	chr13:64994760-64994761	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs535780478	chr13:64994823-64994824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375229074	chr13:64994855-64994856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538629619	chr13:64994876-64994877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572572783	chr13:64994920-64994921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185323249	chr13:64994947-64994948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558370150	chr13:64994999-64995000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569665583	chr13:64995059-64995060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536660472	chr13:64995070-64995071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148596397	chr13:64995075-64995076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558874630	chr13:64995083-64995084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555838674	chr13:64995105-64995106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9540084	chr13:64995123-64995124	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:94)

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

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64993600-64994600	Enhancers	Fetal Lung	lung
2	chr13:64994000-64994400	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr13:64994400-64994800	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr13:64994800-64995200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr13:64998200-64998400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:65002200-65003400	Enhancers	NHDF-Ad	bronchial
7	chr13:65009800-65012400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr13:65011600-65014800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr13:65012000-65012800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr13:65012200-65012600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr13:65012200-65012600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr13:65012200-65012600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr13:65012200-65012800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr13:65012200-65012800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr13:65012200-65012800	Enhancers	Fetal Lung	lung
16	chr13:65012200-65013200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:65012400-65012800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr13:65012400-65012800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr13:65012400-65012800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr13:65012600-65014200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr13:65012800-65014000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr13:65012800-65014200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr13:65012800-65014200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr13:65012800-65014200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr13:65012800-65014200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr13:65014000-65014800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr13:65014200-65014600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr13:65014200-65014600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr13:65014200-65014800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr13:65014200-65014800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr13:65014200-65015000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr13:65014800-65016000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr13:65016000-65016200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr13:65021600-65021800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr13:65021800-65038800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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