Variant report

Variant	nsv1050057
Chromosome Location	chr13:55029926-55084373
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:55057860..55060110-chr13:55070422..55072564,2	MCF-7	breast:
2	chr13:55057860..55060110-chr13:55070422..55072564,2	MCF-7	breast:

Extended variants
information (count: 303 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566121007	chr13:55039008-55039009	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs563991469	chr13:55039017-55039018	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs372583049	chr13:55039024-55039025	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs7997058	chr13:55039039-55039040	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs186114720	chr13:55039069-55039070	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs575574202	chr13:55039072-55039073	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs7997250	chr13:55039090-55039091	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs368034185	chr13:55039105-55039106	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs7997731	chr13:55039136-55039137	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs9569038	chr13:55039156-55039157	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs190533203	chr13:55039181-55039182	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs555303579	chr13:55039225-55039226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528266113	chr13:55039242-55039243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149616141	chr13:55039243-55039244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117647462	chr13:55039310-55039311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181978059	chr13:55039342-55039343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550895424	chr13:55039404-55039405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576165707	chr13:55039416-55039417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532569664	chr13:55039443-55039444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147292151	chr13:55039455-55039456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7998363	chr13:55039483-55039484	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs61953865	chr13:55039573-55039574	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs9536736	chr13:55039608-55039609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75386274	chr13:55039674-55039675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186397172	chr13:55039689-55039690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557668587	chr13:55039690-55039691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2409078	chr13:55039700-55039701	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs539438712	chr13:55039707-55039708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117543394	chr13:55039709-55039710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549011217	chr13:55039720-55039721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79597053	chr13:55039763-55039764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572981978	chr13:55039778-55039779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7982232	chr13:55039784-55039785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190955530	chr13:55039811-55039812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567226652	chr13:55039832-55039833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7981428	chr13:55039855-55039856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564428486	chr13:55039861-55039862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147147690	chr13:55039866-55039867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376657707	chr13:55039869-55039870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2244186	chr13:55039873-55039874	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs559376115	chr13:55039896-55039897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116932008	chr13:55039909-55039910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79956717	chr13:55039929-55039930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs57955841	chr13:55039943-55039944	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs537679577	chr13:55039963-55039964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566872639	chr13:55039973-55039974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377279494	chr13:55039974-55039975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1415198	chr13:55040059-55040060	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs182785169	chr13:55040119-55040120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539020854	chr13:55040124-55040125	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	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
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:55039000-55039200	ZNF genes & repeats	Pancreas	Pancrea
2	chr13:55039000-55039400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr13:55039200-55039400	Enhancers	Pancreas	Pancrea
4	chr13:55039200-55040200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr13:55059400-55060400	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr13:55060800-55061600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:55067200-55067800	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr13:55068600-55069000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:55072000-55075200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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