Variant report

Variant	esv3326297
Chromosome Location	chr13:39362252-39365750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF3	chr13:39365553-39365581	GM12878	blood:	n/a	n/a
2	MAFK	chr13:39362361-39362423	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr13:39365729-39365864	ProgFib	skin:	n/a	n/a

Variant related genes	Relation type
ENSG00000212049	TF binding region

Extended variants
information (count: 97 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56036567	chr13:39362262-39362263	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562621126	chr13:39362271-39362272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7338488	chr13:39362295-39362296	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs367675222	chr13:39362307-39362308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372915425	chr13:39362367-39362368	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs35870868	chr13:39362441-39362442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550469583	chr13:39362444-39362445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs17443285	chr13:39362454-39362455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529898898	chr13:39362549-39362550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546869167	chr13:39362589-39362590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561720982	chr13:39362608-39362609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113949457	chr13:39362620-39362621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538620342	chr13:39362634-39362635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558611764	chr13:39362642-39362643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568942328	chr13:39362670-39362671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182081573	chr13:39362685-39362686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554820560	chr13:39362715-39362716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs17058605	chr13:39362716-39362717	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs187668379	chr13:39362757-39362758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540357720	chr13:39362882-39362883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192819497	chr13:39363143-39363144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144305987	chr13:39363154-39363155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562558552	chr13:39363243-39363244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529253156	chr13:39363277-39363278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531673799	chr13:39363347-39363348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9548454	chr13:39363361-39363362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs562087565	chr13:39363472-39363473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529889471	chr13:39363490-39363491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148745800	chr13:39363522-39363523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9548455	chr13:39363550-39363551	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs142299489	chr13:39363553-39363554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552166473	chr13:39363579-39363580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568878268	chr13:39363584-39363585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560771535	chr13:39363591-39363592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537491758	chr13:39363618-39363619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536684124	chr13:39363620-39363621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576414875	chr13:39363638-39363639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529591009	chr13:39363650-39363651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577789838	chr13:39363656-39363657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs56259575	chr13:39363666-39363667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199614987	chr13:39363696-39363697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184804155	chr13:39363697-39363698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568097606	chr13:39363717-39363718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534380957	chr13:39363802-39363803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200818466	chr13:39363870-39363871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369215901	chr13:39363888-39363889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549719488	chr13:39363893-39363894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115365534	chr13:39363929-39363930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188419851	chr13:39363960-39363961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568024649	chr13:39364030-39364031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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	17899364	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
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21965145	CNVD
Hirschsprung''s Disease	21712996	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	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
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39338000-39365400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr13:39346600-39365000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr13:39346600-39370800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr13:39350600-39370600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr13:39356600-39373600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:39359000-39370600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr13:39359200-39375800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:39359600-39376800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr13:39360400-39377600	Weak transcription	Fetal Kidney	kidney
10	chr13:39364800-39365400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr13:39365000-39365600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr13:39365400-39365600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr13:39365400-39365800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr13:39365600-39367000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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