Variant report

Variant	esv3584660
Chromosome Location	chr13:64224205-64234911
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 175 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:175 , 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	rs2590922	chr13:64224205-64224206	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537642043	chr13:64224213-64224214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556231881	chr13:64224229-64224230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150092749	chr13:64224291-64224292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535115327	chr13:64224301-64224302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368988166	chr13:64224306-64224307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184915647	chr13:64224315-64224316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138354555	chr13:64224316-64224317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376111213	chr13:64224323-64224324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189809890	chr13:64224363-64224364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371312333	chr13:64224395-64224396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568142372	chr13:64224402-64224403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7996595	chr13:64224407-64224408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7995224	chr13:64224412-64224413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71439999	chr13:64224420-64224421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370511333	chr13:64224448-64224449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544785899	chr13:64224480-64224481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141525458	chr13:64224528-64224529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368552413	chr13:64224540-64224541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530378125	chr13:64224546-64224547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs58718972	chr13:64224554-64224555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181910839	chr13:64224571-64224572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73189446	chr13:64224572-64224573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527656355	chr13:64224588-64224589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373918763	chr13:64224589-64224590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533998231	chr13:64224590-64224591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185686227	chr13:64224614-64224615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570609362	chr13:64224661-64224662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537648502	chr13:64224681-64224682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111567454	chr13:64224708-64224709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201399415	chr13:64224709-64224710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138617149	chr13:64224711-64224712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568283349	chr13:64224788-64224789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs17289812	chr13:64224792-64224793	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs564081154	chr13:64224794-64224795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373641679	chr13:64224831-64224832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200918001	chr13:64224852-64224853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2587599	chr13:64224853-64224854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375438867	chr13:64224858-64224859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9592287	chr13:64224859-64224860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs67433745	chr13:64224861-64224862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199849820	chr13:64224863-64224864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545333298	chr13:64224869-64224870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs60469055	chr13:64224875-64224876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370651192	chr13:64224889-64224890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142304502	chr13:64224914-64224915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553986855	chr13:64224922-64224923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181778417	chr13:64224930-64224931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs17368232	chr13:64224949-64224950	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs115831860	chr13:64225005-64225006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64223200-64224400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:64224000-64224400	Enhancers	H9 Cell Line	embryonic stem cell
3	chr13:64224400-64227200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:64227200-64227400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr13:64233000-64233600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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