Variant report

Variant	nsv900095
Chromosome Location	chr13:55050498-55107650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:55057860..55060110-chr13:55070422..55072564,2	MCF-7	breast:
2	chr13:55097700..55099907-chr13:55102895..55105179,2	K562	blood:
3	chr13:55097700..55099907-chr13:55102895..55105179,2	K562	blood:
4	chr13:55057860..55060110-chr13:55070422..55072564,2	MCF-7	breast:

Extended variants
information (count: 285 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528761838	chr13:55059404-55059405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs71439523	chr13:55059448-55059449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548929662	chr13:55059467-55059468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141887780	chr13:55059495-55059496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577564998	chr13:55059521-55059522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372593136	chr13:55059535-55059536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192035289	chr13:55059565-55059566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201750281	chr13:55059635-55059636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142972624	chr13:55059658-55059659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570457550	chr13:55059672-55059673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540502054	chr13:55059673-55059674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539568275	chr13:55059677-55059678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530911758	chr13:55059697-55059698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546468980	chr13:55059700-55059701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566686436	chr13:55059714-55059715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535336797	chr13:55059725-55059726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183393056	chr13:55059729-55059730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs151100239	chr13:55059780-55059781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560151002	chr13:55059788-55059789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537048863	chr13:55059790-55059791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556980792	chr13:55059857-55059858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368706795	chr13:55059893-55059894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577255523	chr13:55059962-55059963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546310066	chr13:55060016-55060017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553272832	chr13:55060026-55060027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs367573815	chr13:55060038-55060039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369695384	chr13:55060089-55060090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188772683	chr13:55060116-55060117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78883694	chr13:55060171-55060172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79885107	chr13:55060180-55060181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs578246940	chr13:55060226-55060227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530472447	chr13:55060234-55060235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111722882	chr13:55060246-55060247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544224664	chr13:55060255-55060256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564150382	chr13:55060256-55060257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532871562	chr13:55060257-55060258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546696480	chr13:55060258-55060259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566514300	chr13:55060259-55060260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543420646	chr13:55060262-55060263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12184661	chr13:55060306-55060307	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs548817014	chr13:55060310-55060311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs56281998	chr13:55060320-55060321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79431793	chr13:55060359-55060360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568743463	chr13:55060822-55060823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs564648616	chr13:55060824-55060825	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs531478264	chr13:55060839-55060840	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs80110988	chr13:55060877-55060878	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs570725122	chr13:55060919-55060920	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs146461297	chr13:55060938-55060939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs140872376	chr13:55060992-55060993	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:55059400-55060400	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr13:55060800-55061600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:55067200-55067800	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr13:55068600-55069000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:55072000-55075200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr13:55087400-55087800	Enhancers	Adipose Nuclei	Adipose
7	chr13:55093400-55093800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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