Variant report

Variant	esv2761794
Chromosome Location	chr13:63553646-63576107
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 594 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:594 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7999193	chr13:63553646-63553647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149847553	chr13:63553648-63553649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542626098	chr13:63553649-63553650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145878956	chr13:63553707-63553708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2805961	chr13:63553720-63553721	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs540855015	chr13:63553725-63553726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140077093	chr13:63553738-63553739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73499686	chr13:63553786-63553787	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs550655972	chr13:63553814-63553815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145596380	chr13:63553862-63553863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2805962	chr13:63553876-63553877	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs111743872	chr13:63553878-63553879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142385731	chr13:63553881-63553882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375184347	chr13:63553914-63553915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143302137	chr13:63553930-63553931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs151239779	chr13:63553945-63553946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534074207	chr13:63553964-63553965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539425527	chr13:63554028-63554029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140465032	chr13:63554033-63554034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112783099	chr13:63554058-63554059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369382762	chr13:63554059-63554060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150161301	chr13:63554086-63554087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557448235	chr13:63554143-63554144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575613011	chr13:63554161-63554162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187775707	chr13:63554177-63554178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192773108	chr13:63554215-63554216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542052366	chr13:63554272-63554273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540940831	chr13:63554291-63554292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184028658	chr13:63554297-63554298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577536923	chr13:63554361-63554362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544445541	chr13:63554377-63554378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562638980	chr13:63554388-63554389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373382147	chr13:63554407-63554408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529731425	chr13:63554444-63554445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548216352	chr13:63554448-63554449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559707862	chr13:63554493-63554494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs58514496	chr13:63554531-63554532	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs138674208	chr13:63554562-63554563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73499689	chr13:63554611-63554612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544330244	chr13:63554633-63554634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189086967	chr13:63554701-63554702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377717230	chr13:63554733-63554734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181470017	chr13:63554749-63554750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73499690	chr13:63554751-63554752	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs117542681	chr13:63554770-63554771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555062964	chr13:63554782-63554783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141737187	chr13:63554863-63554864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534156633	chr13:63554886-63554887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184503377	chr13:63554922-63554923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577597220	chr13:63554924-63554925	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Multiple myeloma	17550852	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
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63551400-63554600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:63554400-63555000	Enhancers	Dnd41	blood
3	chr13:63554600-63555000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr13:63555000-63563000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr13:63558600-63559000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr13:63559400-63560000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:63569800-63570000	Enhancers	Dnd41	blood
8	chr13:63570000-63571200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr13:63570000-63572200	Flanking Active TSS	Dnd41	blood
10	chr13:63570200-63571000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr13:63570200-63572200	Enhancers	Fetal Thymus	thymus
12	chr13:63570400-63571400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr13:63570600-63572200	Enhancers	Primary hematopoietic stem cells	blood
14	chr13:63571000-63572200	Enhancers	Primary T cells from cord blood	blood
15	chr13:63571000-63572200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr13:63571200-63572000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr13:63571200-63572000	Enhancers	Thymus	Thymus
18	chr13:63571400-63571600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr13:63571600-63571800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr13:63571800-63572000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr13:63572000-63573000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr13:63572000-63573200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr13:63572200-63572800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr13:63572200-63573800	Enhancers	Dnd41	blood
25	chr13:63573800-63575600	Weak transcription	Dnd41	blood
26	chr13:63575600-63576000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr13:63575600-63577000	Enhancers	Dnd41	blood

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