Variant report

Variant	nsv562362
Chromosome Location	chr13:76536274-76563261
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:76540838..76542386-chr13:76542518..76545047,2	MCF-7	breast:
2	chr13:76540838..76542386-chr13:76542518..76545047,2	MCF-7	breast:
3	chr13:76547458..76549080-chr13:76550616..76553437,2	K562	blood:
4	chr13:76547458..76549080-chr13:76550616..76553437,2	K562	blood:

Extended variants
information (count: 304 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9530494	chr13:76536274-76536275	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572804623	chr13:76536281-76536282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9544091	chr13:76536311-76536312	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs9530495	chr13:76536362-76536363	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs139284824	chr13:76536379-76536380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574846207	chr13:76536400-76536401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544080238	chr13:76536434-76536435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541969294	chr13:76536483-76536484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368704542	chr13:76536484-76536485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7324589	chr13:76536489-76536490	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs149987341	chr13:76536507-76536508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs386772425	chr13:76536525-76536526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7328730	chr13:76536527-76536528	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs12868376	chr13:76536538-76536539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183396070	chr13:76536540-76536541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12869461	chr13:76536552-76536553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187350777	chr13:76536553-76536554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs193175466	chr13:76536557-76536558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12869465	chr13:76536567-76536568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371760050	chr13:76536575-76536576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569473841	chr13:76536601-76536602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145175583	chr13:76536608-76536609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557856262	chr13:76536616-76536617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141463310	chr13:76536648-76536649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533628913	chr13:76536661-76536662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554974360	chr13:76536664-76536665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200525231	chr13:76536680-76536681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573301024	chr13:76536708-76536709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544142052	chr13:76536709-76536710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184610029	chr13:76536821-76536822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375512239	chr13:76536904-76536905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189781459	chr13:76536907-76536908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145158103	chr13:76536913-76536914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192798752	chr13:76536940-76536941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543379780	chr13:76536950-76536951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7329606	chr13:76536973-76536974	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs183593070	chr13:76537023-76537024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529294432	chr13:76537028-76537029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146862264	chr13:76537039-76537040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78764373	chr13:76537040-76537041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188198680	chr13:76537044-76537045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547093750	chr13:76537085-76537086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9565209	chr13:76537093-76537094	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs567033686	chr13:76537140-76537141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs17090515	chr13:76537148-76537149	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs369958497	chr13:76537158-76537159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548661076	chr13:76537229-76537230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566935409	chr13:76537233-76537234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181733565	chr13:76537239-76537240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140667201	chr13:76537240-76537241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
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
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	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
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	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
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Intracranial aneurysm	16715129	CNVD
Non-small cell lung cancer	19010865	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76534200-76538200	Enhancers	K562	blood
2	chr13:76535000-76536400	Enhancers	GM12878-XiMat	blood
3	chr13:76535000-76537400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr13:76536200-76537000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:76536800-76538000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:76537000-76537400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:76537000-76538000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr13:76537000-76538000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr13:76537000-76538000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr13:76537200-76537800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr13:76537200-76538200	Enhancers	Fetal Heart	heart
12	chr13:76537400-76537800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr13:76537400-76537800	Enhancers	Right Atrium	heart
14	chr13:76537400-76537800	Enhancers	A549	lung
15	chr13:76537400-76538000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr13:76537400-76538000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr13:76537400-76538000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr13:76537400-76538200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr13:76537600-76537800	Enhancers	Aorta	Aorta
20	chr13:76542000-76542600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:76542200-76542600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr13:76542200-76542600	Enhancers	NHDF-Ad	bronchial
23	chr13:76554000-76555400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr13:76554200-76554600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr13:76558000-76559400	Enhancers	K562	blood
26	chr13:76558200-76558800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr13:76558600-76559000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr13:76559400-76559800	Flanking Active TSS	K562	blood
29	chr13:76559800-76561400	Enhancers	K562	blood

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