Variant report

Variant	esv3344184
Chromosome Location	chr13:64018376-64020924
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 120 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375333626	chr13:64018442-64018443	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539695256	chr13:64018448-64018449	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551720338	chr13:64018462-64018463	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569634594	chr13:64018474-64018475	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115052689	chr13:64018480-64018481	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555418173	chr13:64018494-64018495	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573701594	chr13:64018533-64018534	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537324	chr13:64018559-64018560	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs537293	chr13:64018569-64018570	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs61953623	chr13:64018585-64018586	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs531804785	chr13:64018636-64018637	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546061661	chr13:64018637-64018638	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574365748	chr13:64018685-64018686	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576014650	chr13:64018734-64018735	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2487117	chr13:64018752-64018753	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs186342074	chr13:64018784-64018785	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191595111	chr13:64018793-64018794	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563152329	chr13:64018795-64018796	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181702431	chr13:64018869-64018870	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs112154709	chr13:64018878-64018879	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs144583985	chr13:64018885-64018886	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs78455956	chr13:64018897-64018898	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs139675864	chr13:64018928-64018929	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs145188661	chr13:64018965-64018966	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs114126926	chr13:64018978-64018979	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs567264002	chr13:64018982-64018983	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs527749074	chr13:64018987-64018988	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs534375013	chr13:64019051-64019052	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs553055319	chr13:64019075-64019076	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs377713377	chr13:64019149-64019150	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs71439992	chr13:64019188-64019189	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs539681321	chr13:64019229-64019230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558009518	chr13:64019250-64019251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576378322	chr13:64019296-64019297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12430028	chr13:64019298-64019299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186682630	chr13:64019300-64019301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529940137	chr13:64019316-64019317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375238491	chr13:64019337-64019338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12869899	chr13:64019375-64019376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71102446	chr13:64019382-64019383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367970255	chr13:64019383-64019384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554808390	chr13:64019393-64019394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368055538	chr13:64019397-64019398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370375426	chr13:64019401-64019402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374340522	chr13:64019423-64019424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71102447	chr13:64019437-64019438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367833863	chr13:64019445-64019446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371593550	chr13:64019467-64019468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71102448	chr13:64019468-64019469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376796575	chr13:64019495-64019496	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64010800-64024000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:64015600-64024000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:64016000-64019200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:64018200-64018800	Enhancers	HMEC	breast
5	chr13:64019200-64023800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:64020400-64021000	Active TSS	Pancreatic Islets	Pancreatic Islet

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