Variant report

Variant	nsv976228
Chromosome Location	chr13:69411354-69424225
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 184 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:184 , 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	rs576883746	chr13:69419813-69419814	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs545859255	chr13:69419814-69419815	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs140237735	chr13:69419862-69419863	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs575821327	chr13:69419935-69419936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs573145555	chr13:69419940-69419941	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs541579989	chr13:69419944-69419945	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs59983640	chr13:69419959-69419960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs573233374	chr13:69419962-69419963	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs527551107	chr13:69419966-69419967	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs145647652	chr13:69420012-69420013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs372089002	chr13:69420075-69420076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs73506172	chr13:69420086-69420087	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs552632186	chr13:69420114-69420115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs73506175	chr13:69420115-69420116	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs531944267	chr13:69420192-69420193	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs548759584	chr13:69420206-69420207	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs190203284	chr13:69420208-69420209	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs147570438	chr13:69420225-69420226	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs565096529	chr13:69420245-69420246	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs532695611	chr13:69420248-69420249	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs553512807	chr13:69420261-69420262	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs73506177	chr13:69420264-69420265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs539197430	chr13:69420292-69420293	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs556228602	chr13:69420315-69420316	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs575693579	chr13:69420318-69420319	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs207473984	chr13:69420349-69420350	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs541641321	chr13:69420364-69420365	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs555118473	chr13:69420389-69420390	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs572037302	chr13:69420403-69420404	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs138774938	chr13:69420405-69420406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs541304054	chr13:69420415-69420416	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs376437614	chr13:69420481-69420482	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs181010643	chr13:69420490-69420491	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs185988648	chr13:69420496-69420497	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs373662595	chr13:69420511-69420512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs370691325	chr13:69420533-69420534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs532536055	chr13:69420564-69420565	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs545831170	chr13:69420604-69420605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562979773	chr13:69420710-69420711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531804549	chr13:69420745-69420746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370094529	chr13:69420798-69420799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548821809	chr13:69420855-69420856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568646163	chr13:69420856-69420857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528007200	chr13:69420894-69420895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148604565	chr13:69420899-69420900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190664103	chr13:69420909-69420910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117793378	chr13:69420914-69420915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184101646	chr13:69420917-69420918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs61949912	chr13:69420931-69420932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs602114	chr13:69420941-69420942	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

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
Breast cancer	22737080	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:69419800-69420600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:69420200-69420600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
3	chr13:69420600-69448400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:69421200-69421800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr13:69421400-69422000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr13:69424200-69424800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:69424200-69425200	Enhancers	NH-A	brain

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