Variant report

Variant	esv3440462
Chromosome Location	chr13:63846000-63870276
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 149 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142824376	chr13:63853005-63853006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs298810	chr13:63853023-63853024	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs564026486	chr13:63853042-63853043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184244428	chr13:63853050-63853051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532993850	chr13:63853075-63853076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372262948	chr13:63853084-63853085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147184121	chr13:63853129-63853130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75526904	chr13:63853151-63853152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530172247	chr13:63853152-63853153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563286919	chr13:63853168-63853169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs80090560	chr13:63853174-63853175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117373619	chr13:63853961-63853962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530727728	chr13:63853983-63853984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs60070486	chr13:63861420-63861421	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs533520338	chr13:63861422-63861423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs71200449	chr13:63861434-63861435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139363607	chr13:63861435-63861436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs57636073	chr13:63861452-63861453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74978598	chr13:63861467-63861468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190477627	chr13:63861549-63861550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34875477	chr13:63861565-63861566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs193218160	chr13:63861569-63861570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531086035	chr13:63861574-63861575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11839402	chr13:63861656-63861657	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs372310875	chr13:63861667-63861668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201985166	chr13:63861673-63861674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566554766	chr13:63861690-63861691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371843962	chr13:63861710-63861711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546641612	chr13:63861716-63861717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185492723	chr13:63861718-63861719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139621083	chr13:63861724-63861725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189566963	chr13:63861730-63861731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368890814	chr13:63861776-63861777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2992169	chr13:63861781-63861782	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs575424277	chr13:63861790-63861791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536141185	chr13:63861813-63861814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs180869424	chr13:63861819-63861820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572876727	chr13:63861861-63861862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548998796	chr13:63861887-63861888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9564020	chr13:63861899-63861900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs564935816	chr13:63861909-63861910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185846506	chr13:63861938-63861939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544320105	chr13:63861965-63861966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530828586	chr13:63861969-63861970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116431022	chr13:63861982-63861983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9570815	chr13:63861989-63861990	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs377037149	chr13:63861991-63861992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369278983	chr13:63862089-63862090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549262989	chr13:63862127-63862128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141869105	chr13:63862128-63862129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63853000-63853200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:63853800-63854000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:63861400-63861800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr13:63861800-63862800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr13:63862200-63864800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:63862800-63863000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr13:63864200-63864600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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