Variant report

Variant	esv3520940
Chromosome Location	chr13:51714284-51719874
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 234 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:234 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553587649	chr13:51714296-51714297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573504864	chr13:51714313-51714314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542462896	chr13:51714391-51714392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147016559	chr13:51714440-51714441	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575854962	chr13:51714475-51714476	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543357352	chr13:51714489-51714490	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563182082	chr13:51714508-51714509	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532070886	chr13:51714520-51714521	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73188258	chr13:51714578-51714579	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs559102884	chr13:51714604-51714605	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531967797	chr13:51714665-51714666	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548098683	chr13:51714701-51714702	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568304955	chr13:51714705-51714706	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530718867	chr13:51714756-51714757	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376680606	chr13:51714766-51714767	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371212707	chr13:51714770-51714771	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569181537	chr13:51714795-51714796	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148025675	chr13:51714804-51714805	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539917653	chr13:51714856-51714857	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141740905	chr13:51714895-51714896	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373904566	chr13:51714927-51714928	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566986965	chr13:51714943-51714944	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536014186	chr13:51715000-51715001	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186430082	chr13:51715033-51715034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575888481	chr13:51715040-51715041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528489635	chr13:51715050-51715051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556903409	chr13:51715129-51715130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576460955	chr13:51715152-51715153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200535710	chr13:51715154-51715155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545419786	chr13:51715160-51715161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540697527	chr13:51715161-51715162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541377497	chr13:51715162-51715163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541961983	chr13:51715180-51715181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61344825	chr13:51715184-51715185	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs530826538	chr13:51715201-51715202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550627230	chr13:51715214-51715215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371473032	chr13:51715232-51715233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs3221248	chr13:51715233-51715234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61221564	chr13:51715272-51715273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs3043870	chr13:51715274-51715275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs61557870	chr13:51715275-51715276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76081612	chr13:51715276-51715277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376525620	chr13:51715329-51715330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564093151	chr13:51715375-51715376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371775723	chr13:51715385-51715386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570394071	chr13:51715402-51715403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181459860	chr13:51715414-51715415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547026397	chr13:51715450-51715451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566921735	chr13:51715479-51715480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34028378	chr13:51715510-51715511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

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
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Myelofibrosis	22110671	CNVD
Hereditary prostate cancer	22028916	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Prostate cancer	17217626	CNVD
Ovarian cancer	21781307	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21990379	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51700400-51721200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:51707800-51717400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr13:51708000-51714400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr13:51708200-51715800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr13:51708200-51720400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr13:51711600-51720400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr13:51712400-51714400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:51713600-51714600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr13:51714400-51715000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr13:51714400-51715000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:51717000-51720000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr13:51717400-51719600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr13:51718000-51719200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr13:51718600-51720000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
15	chr13:51719200-51720600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr13:51719600-51720000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr13:51719800-51725200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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