Variant report

Variant	nsv900383
Chromosome Location	chr13:66214302-66289610
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	chr13:66230680..66231446-chr13:66540896..66541772,3	MCF-7	breast:
2	chr13:66206471..66208391-chr13:66217892..66220664,2	K562	blood:

Extended variants
information (count: 757 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:757 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7988964	chr13:66214302-66214303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183020074	chr13:66214320-66214321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563926601	chr13:66214338-66214339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570490549	chr13:66214343-66214344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541896453	chr13:66214344-66214345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146078548	chr13:66214368-66214369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11620548	chr13:66214391-66214392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74752936	chr13:66214409-66214410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111702387	chr13:66214434-66214435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143552961	chr13:66214442-66214443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533260335	chr13:66214448-66214449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549682146	chr13:66214450-66214451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569849176	chr13:66214489-66214490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535317935	chr13:66214508-66214509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145116692	chr13:66214559-66214560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148684373	chr13:66214560-66214561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73194101	chr13:66214623-66214624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142183836	chr13:66214632-66214633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75785918	chr13:66214634-66214635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs578242518	chr13:66214667-66214668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544108111	chr13:66214695-66214696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77389318	chr13:66214728-66214729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs151192424	chr13:66214752-66214753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114480015	chr13:66214778-66214779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561440247	chr13:66214786-66214787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187763300	chr13:66214794-66214795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540579062	chr13:66214799-66214800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9540495	chr13:66214809-66214810	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs76289310	chr13:66214812-66214813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9540496	chr13:66214896-66214897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114167179	chr13:66214899-66214900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529074659	chr13:66214902-66214903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141275235	chr13:66214903-66214904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566130164	chr13:66214905-66214906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535143983	chr13:66214912-66214913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146958036	chr13:66214916-66214917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563087377	chr13:66214947-66214948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141974087	chr13:66214957-66214958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537081002	chr13:66215027-66215028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557633827	chr13:66215043-66215044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9528952	chr13:66215069-66215070	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs543168854	chr13:66215082-66215083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553155752	chr13:66215114-66215115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368486311	chr13:66215123-66215124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571782231	chr13:66215135-66215136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548602429	chr13:66215231-66215232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540742411	chr13:66215282-66215283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183922166	chr13:66215284-66215285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564801469	chr13:66215285-66215286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189380916	chr13:66215290-66215291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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
Bipolar disorder	19114987	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:66210800-66216800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr13:66216800-66217000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr13:66216800-66218000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr13:66217000-66217200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr13:66217000-66218000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:66217200-66217400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr13:66217400-66217800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr13:66221200-66221600	Enhancers	Fetal Brain Female	brain
9	chr13:66227400-66228200	Enhancers	Fetal Brain Male	brain
10	chr13:66227600-66228000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr13:66227800-66228400	Enhancers	Fetal Brain Female	brain
12	chr13:66231800-66232800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:66232000-66234000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr13:66232200-66232600	Enhancers	Adipose Nuclei	Adipose
15	chr13:66244200-66245000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr13:66249600-66249800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr13:66251800-66252800	Enhancers	Osteobl	bone
18	chr13:66252000-66252400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr13:66252000-66252400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr13:66252000-66252400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr13:66252000-66252600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr13:66252000-66252600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr13:66252000-66252600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr13:66252200-66252600	Enhancers	Hela-S3	cervix
25	chr13:66252600-66253000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr13:66252800-66253200	Weak transcription	Osteobl	bone
27	chr13:66253000-66253600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr13:66253200-66253800	Enhancers	Osteobl	bone
29	chr13:66260600-66267000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr13:66263200-66267000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr13:66267000-66267200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr13:66267000-66267600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr13:66267000-66267600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr13:66284600-66285200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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