Variant report

Variant	esv3518819
Chromosome Location	chr13:70401913-70406904
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537336098	chr13:70401968-70401969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557238504	chr13:70402017-70402018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113027024	chr13:70402026-70402027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138194883	chr13:70402041-70402042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143901855	chr13:70402053-70402054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561311418	chr13:70402081-70402082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114405896	chr13:70402268-70402269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545546290	chr13:70402293-70402294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78180232	chr13:70402314-70402315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147307929	chr13:70402324-70402325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187172629	chr13:70402339-70402340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561030601	chr13:70402341-70402342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs202084023	chr13:70402365-70402366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116673002	chr13:70402378-70402379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73506336	chr13:70402400-70402401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546977033	chr13:70402423-70402424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571975733	chr13:70402449-70402450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538340902	chr13:70402501-70402502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7331292	chr13:70402522-70402523	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs182377439	chr13:70402526-70402527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74987709	chr13:70402537-70402538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs74408932	chr13:70402557-70402558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114237227	chr13:70402576-70402577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114979784	chr13:70402599-70402600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553070682	chr13:70402622-70402623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79164369	chr13:70402623-70402624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545511548	chr13:70402670-70402671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112697882	chr13:70402678-70402679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187628216	chr13:70402730-70402731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192593610	chr13:70402758-70402759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561168568	chr13:70402780-70402781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539313070	chr13:70402792-70402793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540565182	chr13:70402795-70402796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372170319	chr13:70402821-70402822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559882981	chr13:70402840-70402841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531989801	chr13:70402844-70402845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12431067	chr13:70402849-70402850	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs78315327	chr13:70402880-70402881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530976417	chr13:70402927-70402928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116754867	chr13:70402944-70402945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569418445	chr13:70402946-70402947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567877259	chr13:70402966-70402967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536542174	chr13:70402989-70402990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369445051	chr13:70402993-70402994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185645470	chr13:70403015-70403016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566834357	chr13:70403024-70403025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143362104	chr13:70403054-70403055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546579405	chr13:70403071-70403072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114920898	chr13:70403072-70403073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190542877	chr13:70403086-70403087	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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