Variant report

Variant	nsv562210
Chromosome Location	chr13:70399003-70407024
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 165 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7335903	chr13:70399810-70399811	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9542095	chr13:70399842-70399843	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs557711473	chr13:70399917-70399918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564994046	chr13:70399969-70399970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141293549	chr13:70399974-70399975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79781802	chr13:70399990-70399991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148562397	chr13:70399995-70399996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116569580	chr13:70400081-70400082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190824117	chr13:70400088-70400089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575885018	chr13:70400122-70400123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543321599	chr13:70400123-70400124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs80142971	chr13:70400129-70400130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs397699095	chr13:70400130-70400131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200816876	chr13:70400131-70400132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7336219	chr13:70400215-70400216	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs540913676	chr13:70400243-70400244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527970477	chr13:70400245-70400246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116253005	chr13:70400257-70400258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78638901	chr13:70400284-70400285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567009787	chr13:70400286-70400287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533195379	chr13:70400308-70400309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76421386	chr13:70400334-70400335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114550239	chr13:70400353-70400354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115103943	chr13:70400379-70400380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551119171	chr13:70400423-70400424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369171195	chr13:70400466-70400467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530549028	chr13:70400467-70400468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549145582	chr13:70400471-70400472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570054827	chr13:70400479-70400480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561689887	chr13:70400563-70400564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534911929	chr13:70400589-70400590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567364151	chr13:70400604-70400605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs199924029	chr13:70400610-70400611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557805712	chr13:70400627-70400628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372221440	chr13:70400651-70400652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531005333	chr13:70400654-70400655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115504679	chr13:70400671-70400672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182140978	chr13:70400672-70400673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75081775	chr13:70400674-70400675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185529669	chr13:70400684-70400685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144260651	chr13:70400710-70400711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369381884	chr13:70400711-70400712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567632654	chr13:70400739-70400740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544378728	chr13:70400743-70400744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141048000	chr13:70400780-70400781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144908760	chr13:70400788-70400789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs6562596	chr13:70400798-70400799	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs190057724	chr13:70400844-70400845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11372220	chr13:70400913-70400914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34647588	chr13:70400914-70400915	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
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
Myelofibrosis	22110671	CNVD
Esophageal cancer	21851588	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Prostate cancer	22341455	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:70399800-70400200	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr13:70399800-70400400	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr13:70399800-70400600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr13:70400000-70400600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:70400000-70400800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr13:70400200-70402200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr13:70402000-70403600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr13:70402200-70403200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr13:70402200-70403400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr13:70402600-70403200	Enhancers	Adipose Nuclei	Adipose
11	chr13:70402600-70403200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr13:70402800-70403000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr13:70402800-70403200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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