Variant report

Variant	nsv974210
Chromosome Location	chr13:66044504-66054705
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	chr13:66046639..66047382-chr3:13541452..13542407,2	MCF-7	breast:

Extended variants
information (count: 126 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562313720	chr13:66044504-66044505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527845020	chr13:66044516-66044517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200374684	chr13:66044545-66044546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541346183	chr13:66044559-66044560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4570713	chr13:66044576-66044577	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs57575845	chr13:66044600-66044601	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs543874480	chr13:66044616-66044617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551755556	chr13:66044623-66044624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568715416	chr13:66044649-66044650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201508933	chr13:66044661-66044662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531448906	chr13:66044664-66044665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190900673	chr13:66044665-66044666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182656269	chr13:66044678-66044679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562568267	chr13:66044726-66044727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554141937	chr13:66044727-66044728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570749164	chr13:66044746-66044747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529773070	chr13:66044767-66044768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539887461	chr13:66044772-66044773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9571410	chr13:66044775-66044776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35528533	chr13:66044806-66044807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs187205374	chr13:66044889-66044890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150037421	chr13:66044970-66044971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199714358	chr13:66045041-66045042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565131289	chr13:66045081-66045082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191074926	chr13:66045139-66045140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375325659	chr13:66045142-66045143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564489440	chr13:66045147-66045148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369608486	chr13:66045151-66045152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183546621	chr13:66045187-66045188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543670703	chr13:66045203-66045204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9317509	chr13:66045250-66045251	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs187512057	chr13:66045284-66045285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548294486	chr13:66045374-66045375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140683852	chr13:66045410-66045411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs68062735	chr13:66045418-66045419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200808897	chr13:66045426-66045427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376181530	chr13:66045427-66045428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552549041	chr13:66045483-66045484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs9540437	chr13:66045502-66045503	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs370219370	chr13:66045533-66045534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113839399	chr13:66045589-66045590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547609196	chr13:66045629-66045630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114549195	chr13:66045644-66045645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116560265	chr13:66045700-66045701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145319984	chr13:66045711-66045712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570051617	chr13:66045731-66045732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535457104	chr13:66045733-66045734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372297442	chr13:66045748-66045749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs398098929	chr13:66045749-66045750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs397776677	chr13:66045752-66045753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Intellectual disability	21811512	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	20877625	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:66043400-66046000	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr13:66043600-66045000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:66043800-66046400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr13:66043800-66047600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr13:66044400-66045800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr13:66044400-66046400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr13:66045200-66045400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:66045200-66045600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr13:66045800-66047000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr13:66046000-66046800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr13:66046400-66046600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr13:66046400-66046800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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