Variant report

Variant	esv3349883
Chromosome Location	chr13:65432000-65459575
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:65452228..65453752-chr13:65456863..65459026,2	MCF-7	breast:
2	chr13:65452228..65453752-chr13:65456863..65459026,2	MCF-7	breast:

Extended variants
information (count: 400 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:400 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570352545	chr13:65432412-65432413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529643831	chr13:65432427-65432428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571170226	chr13:65432496-65432497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145179014	chr13:65432532-65432533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs193052191	chr13:65432607-65432608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111518366	chr13:65432651-65432652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534112931	chr13:65432690-65432691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532085277	chr13:65432691-65432692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74690697	chr13:65432715-65432716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570512804	chr13:65432723-65432724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539634914	chr13:65432735-65432736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556156040	chr13:65432747-65432748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576263324	chr13:65432756-65432757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185663936	chr13:65432789-65432790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs967958	chr13:65432790-65432791	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs550532183	chr13:65435013-65435014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185344052	chr13:65435014-65435015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542362984	chr13:65435062-65435063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559078190	chr13:65435065-65435066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116195404	chr13:65435068-65435069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114853056	chr13:65435089-65435090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189709339	chr13:65435098-65435099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529710604	chr13:65435099-65435100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550978456	chr13:65435103-65435104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144271385	chr13:65435154-65435155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536739243	chr13:65435189-65435190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs6562376	chr13:65435190-65435191	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs183091874	chr13:65435206-65435207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150721647	chr13:65435257-65435258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79655105	chr13:65435262-65435263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559174387	chr13:65435273-65435274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575834683	chr13:65435287-65435288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544547070	chr13:65435298-65435299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35349751	chr13:65435361-65435362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556538411	chr13:65435411-65435412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112697418	chr13:65435434-65435435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188175851	chr13:65435490-65435491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191715591	chr13:65435493-65435494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528263465	chr13:65435504-65435505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544855263	chr13:65435534-65435535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183611315	chr13:65435567-65435568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373402133	chr13:65435569-65435570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565121920	chr13:65435613-65435614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs377412792	chr13:65435650-65435651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530704631	chr13:65435659-65435660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375285047	chr13:65435674-65435675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567616827	chr13:65435695-65435696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530124513	chr13:65435728-65435729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547078965	chr13:65435750-65435751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187931314	chr13:65435768-65435769	Enhancers	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:65432400-65432800	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr13:65435000-65436400	Enhancers	Liver	Liver
3	chr13:65440600-65441000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr13:65440600-65441000	Enhancers	Fetal Stomach	stomach
5	chr13:65443400-65443800	Enhancers	HUVEC	blood vessel
6	chr13:65443800-65445800	Weak transcription	HUVEC	blood vessel
7	chr13:65445800-65446200	Enhancers	HUVEC	blood vessel
8	chr13:65446200-65446400	ZNF genes & repeats	Pancreas	Pancrea
9	chr13:65446200-65446600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:65446600-65451400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr13:65451400-65451600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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