Variant report

Variant	esv3448426
Chromosome Location	chr13:64870500-64896166
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545848847	chr13:64870636-64870637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189563132	chr13:64870646-64870647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140378701	chr13:64870647-64870648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372399073	chr13:64870671-64870672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561864371	chr13:64870712-64870713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374186056	chr13:64870754-64870755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529178063	chr13:64870784-64870785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547630625	chr13:64870810-64870811	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs181695324	chr13:64870875-64870876	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs9540038	chr13:64870879-64870880	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs386771777	chr13:64870915-64870916	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs551235277	chr13:64870946-64870947	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs569724526	chr13:64870952-64870953	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs77771907	chr13:64870959-64870960	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs17084490	chr13:64870962-64870963	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs186039029	chr13:64871016-64871017	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs17333026	chr13:64871020-64871021	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs140823040	chr13:64871035-64871036	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs371486855	chr13:64871050-64871051	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs572255622	chr13:64871067-64871068	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs545982089	chr13:64871087-64871088	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs9540039	chr13:64871099-64871100	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs576462499	chr13:64871106-64871107	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs190513566	chr13:64871117-64871118	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs116128662	chr13:64871135-64871136	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs150125743	chr13:64871154-64871155	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs541280482	chr13:64871173-64871174	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs559684438	chr13:64871237-64871238	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs558911806	chr13:64871247-64871248	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs533204366	chr13:64871253-64871254	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs551537850	chr13:64871285-64871286	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs181995283	chr13:64871292-64871293	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs530600324	chr13:64871301-64871302	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs138416547	chr13:64871356-64871357	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs566879812	chr13:64871376-64871377	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs186983463	chr13:64871378-64871379	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs17084495	chr13:64871399-64871400	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs146924428	chr13:64871400-64871401	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs9571161	chr13:64871417-64871418	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs558304783	chr13:64871438-64871439	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs576478551	chr13:64871447-64871448	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs551434083	chr13:64871463-64871464	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs543860838	chr13:64871531-64871532	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs555480622	chr13:64871578-64871579	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs551036903	chr13:64871592-64871593	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs187260661	chr13:64879265-64879266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528540080	chr13:64879301-64879302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546981628	chr13:64879336-64879337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1340332	chr13:64879355-64879356	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs188167397	chr13:64879366-64879367	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64870600-64870800	Enhancers	HUVEC	blood vessel
2	chr13:64870800-64871600	Active TSS	HUVEC	blood vessel
3	chr13:64879200-64879600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr13:64888400-64889200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr13:64894600-64895800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr13:64895000-64895400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr13:64895000-64895400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr13:64895200-64895600	Enhancers	HUES64 Cell Line	embryonic stem cell

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