Variant report

Variant	nsv436166
Chromosome Location	chr13:70401337-70407452
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116446485	chr13:70401354-70401355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537012390	chr13:70401358-70401359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190182465	chr13:70401375-70401376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181030510	chr13:70401402-70401403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71853482	chr13:70401419-70401420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567298521	chr13:70401442-70401443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561187994	chr13:70401449-70401450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115653934	chr13:70401485-70401486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185289415	chr13:70401493-70401494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139030670	chr13:70401503-70401504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555103005	chr13:70401508-70401509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190838869	chr13:70401552-70401553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528604132	chr13:70401559-70401560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140299816	chr13:70401575-70401576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557994943	chr13:70401601-70401602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149904985	chr13:70401606-70401607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112361703	chr13:70401635-70401636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs59334541	chr13:70401687-70401688	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs183916618	chr13:70401688-70401689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149090603	chr13:70401699-70401700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187237677	chr13:70401722-70401723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35457419	chr13:70401733-70401734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs373069120	chr13:70401754-70401755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191708932	chr13:70401758-70401759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113997946	chr13:70401788-70401789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368106124	chr13:70401790-70401791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs58965727	chr13:70401798-70401799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs59297195	chr13:70401806-70401807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs145551761	chr13:70401807-70401808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182841033	chr13:70401818-70401819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148311375	chr13:70401830-70401831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141389911	chr13:70401848-70401849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9542096	chr13:70401856-70401857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150433387	chr13:70401857-70401858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71196265	chr13:70401862-70401863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs58504097	chr13:70401874-70401875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529995057	chr13:70401892-70401893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115235176	chr13:70401896-70401897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs80121148	chr13:70401898-70401899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537336098	chr13:70401968-70401969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557238504	chr13:70402017-70402018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113027024	chr13:70402026-70402027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138194883	chr13:70402041-70402042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143901855	chr13:70402053-70402054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561311418	chr13:70402081-70402082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114405896	chr13:70402268-70402269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545546290	chr13:70402293-70402294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78180232	chr13:70402314-70402315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147307929	chr13:70402324-70402325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187172629	chr13:70402339-70402340	Enhancers	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:70400200-70402200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr13:70402000-70403600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:70402200-70403200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr13:70402200-70403400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr13:70402600-70403200	Enhancers	Adipose Nuclei	Adipose
6	chr13:70402600-70403200	Enhancers	Placenta Amnion	Placenta Amnion
7	chr13:70402800-70403000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:70402800-70403200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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