Variant report

Variant	esv1804098
Chromosome Location	chr13:70618186-70633077
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:70627953..70628454-chr2:26525116..26525616,2	Hela-S3	cervix:
2	chr13:70622215..70623950-chr13:70628804..70630682,2	K562	blood:
3	chr13:70622215..70623950-chr13:70628804..70630682,2	K562	blood:

Extended variants
information (count: 192 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:192 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577520427	chr13:70618189-70618190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546142627	chr13:70618227-70618228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563216588	chr13:70618264-70618265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75971151	chr13:70618270-70618271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189101457	chr13:70618296-70618297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143091524	chr13:70618301-70618302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148210672	chr13:70618303-70618304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547495200	chr13:70618312-70618313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4884875	chr13:70618313-70618314	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs376224508	chr13:70618341-70618342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141754940	chr13:70618359-70618360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537237764	chr13:70618360-70618361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569967178	chr13:70618368-70618369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535093814	chr13:70618370-70618371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555449187	chr13:70618377-70618378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373913253	chr13:70618392-70618393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565681703	chr13:70618414-70618415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574229143	chr13:70618472-70618473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534661499	chr13:70618527-70618528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541323316	chr13:70618548-70618549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557899871	chr13:70618574-70618575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577337332	chr13:70618620-70618621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553292940	chr13:70618628-70618629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146228337	chr13:70618636-70618637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556571988	chr13:70618656-70618657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181550097	chr13:70618670-70618671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542165673	chr13:70618692-70618693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545028518	chr13:70618726-70618727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561708609	chr13:70618775-70618776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563773712	chr13:70618813-70618814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115155149	chr13:70618899-70618900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73516783	chr13:70618933-70618934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs564270535	chr13:70618971-70618972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532968702	chr13:70618991-70618992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370873520	chr13:70619008-70619009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184186007	chr13:70619012-70619013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569847752	chr13:70619027-70619028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529140004	chr13:70619056-70619057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188589183	chr13:70619074-70619075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181164233	chr13:70619082-70619083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111658856	chr13:70619106-70619107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139459292	chr13:70619119-70619120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142653645	chr13:70619150-70619151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150833565	chr13:70619151-70619152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186182875	chr13:70619174-70619175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73516785	chr13:70619195-70619196	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs576574334	chr13:70619262-70619263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542084098	chr13:70619263-70619264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555663718	chr13:70619266-70619267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190709765	chr13:70619299-70619300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
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
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Myelofibrosis	22110671	CNVD
Esophageal cancer	21851588	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:70617600-70618200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:70618200-70620800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:70620800-70621600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:70622800-70623200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr13:70623000-70623600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr13:70624800-70625400	Enhancers	Pancreatic Islets	Pancreatic Islet

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