Variant report

Variant	nsv1054556
Chromosome Location	chr13:63394554-63424975
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 164 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:164 , 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	rs567652360	chr13:63399875-63399876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188790295	chr13:63399879-63399880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546672454	chr13:63399923-63399924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138631689	chr13:63399934-63399935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371779647	chr13:63399987-63399988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566543098	chr13:63399997-63399998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538916984	chr13:63400020-63400021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs193299973	chr13:63400043-63400044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145056002	chr13:63400047-63400048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531527855	chr13:63400048-63400049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569142863	chr13:63400057-63400058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535428061	chr13:63400104-63400105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374099813	chr13:63400105-63400106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116565584	chr13:63400129-63400130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572800872	chr13:63400145-63400146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116908501	chr13:63400182-63400183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538132500	chr13:63400427-63400428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201863325	chr13:63400439-63400440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111407837	chr13:63400471-63400472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142509281	chr13:63400517-63400518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561444816	chr13:63400525-63400526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9285243	chr13:63400527-63400528	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs188423118	chr13:63400560-63400561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs17087712	chr13:63400586-63400587	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs180792087	chr13:63400621-63400622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184263184	chr13:63400642-63400643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540347814	chr13:63400643-63400644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2222365	chr13:63400666-63400667	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs61949586	chr13:63400701-63400702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111556368	chr13:63400703-63400704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553437537	chr13:63400704-63400705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576375100	chr13:63400705-63400706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561823040	chr13:63400707-63400708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536853567	chr13:63400714-63400715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573682724	chr13:63400780-63400781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75971873	chr13:63400781-63400782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188554092	chr13:63400800-63400801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7337633	chr13:63400801-63400802	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs74739805	chr13:63400812-63400813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114712556	chr13:63400830-63400831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537839432	chr13:63400831-63400832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556501703	chr13:63400884-63400885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574604614	chr13:63400887-63400888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531157390	chr13:63400898-63400899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7339057	chr13:63400917-63400918	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs7337994	chr13:63400954-63400955	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs7339104	chr13:63400993-63400994	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs181636148	chr13:63400994-63400995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187152248	chr13:63400995-63400996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191534997	chr13:63401017-63401018	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Anaplastic thyroid cancer	18753363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63399800-63400200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:63400400-63401600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:63412000-63412200	Enhancers	Hela-S3	cervix
4	chr13:63413000-63413800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr13:63420000-63421400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr13:63420600-63421000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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