Variant report

Variant	nsv518259
Chromosome Location	chr13:38648788-38661893
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	chr13:38646926..38648943-chr13:38649101..38651879,3	K562	blood:
2	chr13:38646926..38648943-chr13:38649101..38651879,3	K562	blood:

Extended variants
information (count: 416 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:416 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112410418	chr13:38649801-38649802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572664768	chr13:38649806-38649807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538429018	chr13:38649841-38649842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147023522	chr13:38649852-38649853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138435983	chr13:38649855-38649856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575117832	chr13:38649879-38649880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9548179	chr13:38649965-38649966	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs73452152	chr13:38650063-38650064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs184024680	chr13:38650069-38650070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150572412	chr13:38650118-38650119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73452153	chr13:38650132-38650133	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs532891271	chr13:38650146-38650147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550214914	chr13:38650205-38650206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530171253	chr13:38650215-38650216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35613468	chr13:38650252-38650253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186887175	chr13:38650267-38650268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79508992	chr13:38650300-38650301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542329080	chr13:38650333-38650334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555298233	chr13:38650335-38650336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569975860	chr13:38650372-38650373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35035373	chr13:38650373-38650374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535857591	chr13:38650428-38650429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552927689	chr13:38650511-38650512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139559075	chr13:38650516-38650517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9548180	chr13:38650598-38650599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144628569	chr13:38650602-38650603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34036029	chr13:38650639-38650640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569045997	chr13:38650662-38650663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563060908	chr13:38650671-38650672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538894269	chr13:38650717-38650718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555068508	chr13:38650751-38650752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9566297	chr13:38650811-38650812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs191362223	chr13:38650847-38650848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139368213	chr13:38650865-38650866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377233421	chr13:38650878-38650879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565994795	chr13:38650891-38650892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184364960	chr13:38650959-38650960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577601393	chr13:38650987-38650988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs386770106	chr13:38651013-38651014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74413714	chr13:38651014-38651015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531954048	chr13:38651037-38651038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143990976	chr13:38651038-38651039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560632136	chr13:38651039-38651040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9576440	chr13:38651051-38651052	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs190520827	chr13:38651066-38651067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566173632	chr13:38651071-38651072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575215228	chr13:38651100-38651101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552450857	chr13:38651108-38651109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568930708	chr13:38651116-38651117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538060838	chr13:38651153-38651154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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	17899364	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
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21965145	CNVD
Hirschsprung''s Disease	21712996	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	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
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38649800-38651800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr13:38650600-38650800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:38653200-38654400	Weak transcription	Gastric	stomach
4	chr13:38654400-38654600	ZNF genes & repeats	Gastric	stomach
5	chr13:38654600-38659800	Weak transcription	Gastric	stomach
6	chr13:38657600-38659800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:38658600-38659000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr13:38659000-38660800	Weak transcription	Pancreas	Pancrea
9	chr13:38659800-38661600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr13:38659800-38661800	ZNF genes & repeats	Gastric	stomach
11	chr13:38660000-38661600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:38660000-38661600	ZNF genes & repeats	Ovary	ovary
13	chr13:38660200-38661600	ZNF genes & repeats	Lung	lung
14	chr13:38660200-38663000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
15	chr13:38660400-38661400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr13:38660600-38661600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr13:38660600-38661600	ZNF genes & repeats	Fetal Intestine Small	intestine
18	chr13:38660600-38661800	ZNF genes & repeats	Liver	Liver
19	chr13:38660600-38661800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
20	chr13:38660800-38661600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr13:38660800-38661600	ZNF genes & repeats	Adipose Nuclei	Adipose
22	chr13:38660800-38661800	ZNF genes & repeats	Pancreas	Pancrea
23	chr13:38661200-38661600	ZNF genes & repeats	Right Ventricle	heart
24	chr13:38661200-38661800	ZNF genes & repeats	Left Ventricle	heart
25	chr13:38661600-38662600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr13:38661600-38665200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr13:38661800-38664400	Weak transcription	Liver	Liver
28	chr13:38661800-38665000	Weak transcription	Pancreas	Pancrea
29	chr13:38661800-38669000	Weak transcription	Left Ventricle	heart

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