Variant report

Variant	nsv826683
Chromosome Location	chr13:65720523-65754132
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:65721248..65723334-chr13:65726895..65729400,2	K562	blood:
2	chr13:65713474..65715643-chr13:65725699..65727986,2	K562	blood:
3	chr13:65721248..65723334-chr13:65726895..65729400,2	K562	blood:
4	chr13:65720664..65721646-chr3:80013843..80014668,2	MCF-7	breast:

Extended variants
information (count: 142 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201646261	chr13:65723801-65723802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs9571330	chr13:65723808-65723809	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs150695590	chr13:65723830-65723831	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs372813476	chr13:65723838-65723839	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs534854428	chr13:65723858-65723859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs34477009	chr13:65723911-65723912	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs560667021	chr13:65723912-65723913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs529701970	chr13:65723924-65723925	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs377202189	chr13:65723948-65723949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs540041324	chr13:65723969-65723970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs560342559	chr13:65723982-65723983	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs532200537	chr13:65724007-65724008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs569845765	chr13:65724008-65724009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs569036421	chr13:65724056-65724057	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs531751983	chr13:65724062-65724063	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs548560881	chr13:65724067-65724068	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs568568999	chr13:65724070-65724071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs541662563	chr13:65724107-65724108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs534333417	chr13:65724112-65724113	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs375765065	chr13:65724118-65724119	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs553964490	chr13:65724124-65724125	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs571059235	chr13:65724137-65724138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs539622239	chr13:65724139-65724140	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs537377874	chr13:65724150-65724151	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs576294758	chr13:65724182-65724183	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs543815732	chr13:65724202-65724203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9528892	chr13:65724204-65724205	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs574092064	chr13:65724205-65724206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575062286	chr13:65724248-65724249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115805664	chr13:65724307-65724308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559978861	chr13:65724331-65724332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141013940	chr13:65724382-65724383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189851573	chr13:65724389-65724390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182010526	chr13:65724393-65724394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144871846	chr13:65724394-65724395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548497927	chr13:65724410-65724411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568505274	chr13:65724427-65724428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112503430	chr13:65724436-65724437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527670269	chr13:65724482-65724483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147924500	chr13:65724503-65724504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570827459	chr13:65724516-65724517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561131558	chr13:65724526-65724527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs202218473	chr13:65724574-65724575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs56904140	chr13:65726800-65726801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs57770452	chr13:65726801-65726802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549421558	chr13:65726806-65726807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74800998	chr13:65726815-65726816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78613841	chr13:65726816-65726817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528666346	chr13:65726818-65726819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551813796	chr13:65726879-65726880	Enhancers	n/a	n/a	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	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:65723800-65724200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:65724200-65724600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:65726800-65727000	Enhancers	GM12878-XiMat	blood
4	chr13:65727000-65727200	Flanking Active TSS	GM12878-XiMat	blood
5	chr13:65727000-65727400	Active TSS	A549	lung
6	chr13:65727000-65728400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr13:65727200-65727400	Active TSS	GM12878-XiMat	blood
8	chr13:65727200-65728200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr13:65727400-65727800	Enhancers	GM12878-XiMat	blood
10	chr13:65727800-65728600	Weak transcription	GM12878-XiMat	blood
11	chr13:65728200-65728600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
12	chr13:65728600-65729000	Enhancers	GM12878-XiMat	blood
13	chr13:65731400-65732400	Enhancers	HUVEC	blood vessel

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