Variant report

Variant	nsv511511
Chromosome Location	chr13:85799430-85808125
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 342 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:342 , 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	rs555183672	chr13:85799430-85799431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372529753	chr13:85799457-85799458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1387782	chr13:85799476-85799477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs17349694	chr13:85799479-85799480	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs369407235	chr13:85799495-85799496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570051664	chr13:85799574-85799575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530836685	chr13:85799575-85799576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549339982	chr13:85799601-85799602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549282110	chr13:85799603-85799604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567693136	chr13:85799605-85799606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144283134	chr13:85799648-85799649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148728002	chr13:85799670-85799671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571828634	chr13:85799683-85799684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs17079469	chr13:85799685-85799686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557344028	chr13:85799703-85799704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142264491	chr13:85799719-85799720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543085907	chr13:85799741-85799742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555334108	chr13:85799769-85799770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573451657	chr13:85799770-85799771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150805206	chr13:85799787-85799788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139210783	chr13:85799841-85799842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532929713	chr13:85799849-85799850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555775775	chr13:85799876-85799877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563468227	chr13:85799897-85799898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145275858	chr13:85799905-85799906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186725081	chr13:85799916-85799917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11839844	chr13:85799930-85799931	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs147616025	chr13:85799937-85799938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78890579	chr13:85799943-85799944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572460042	chr13:85799958-85799959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142167806	chr13:85799962-85799963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144352409	chr13:85799988-85799989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371880296	chr13:85800008-85800009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192509953	chr13:85800218-85800219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569490626	chr13:85800262-85800263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11843725	chr13:85800263-85800264	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs555074224	chr13:85800282-85800283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77930658	chr13:85800312-85800313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181898456	chr13:85800338-85800339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186115574	chr13:85800368-85800369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145505530	chr13:85800383-85800384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568792416	chr13:85800388-85800389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536573290	chr13:85800394-85800395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554433036	chr13:85800396-85800397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148832095	chr13:85800429-85800430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574305139	chr13:85800439-85800440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143458217	chr13:85800467-85800468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544913288	chr13:85800469-85800470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147971548	chr13:85800482-85800483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189787892	chr13:85800485-85800486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
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	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85798000-85804200	Weak transcription	Fetal Stomach	stomach
2	chr13:85798800-85803600	Weak transcription	Fetal Lung	lung
3	chr13:85803600-85804200	Enhancers	Fetal Lung	lung
4	chr13:85804200-85804600	Weak transcription	Fetal Lung	lung
5	chr13:85804200-85805000	Enhancers	Fetal Stomach	stomach
6	chr13:85804600-85804800	Enhancers	Fetal Lung	lung
7	chr13:85804600-85805000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr13:85804800-85805200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr13:85804800-85805200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr13:85804800-85805200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr13:85804800-85805200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr13:85804800-85805200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr13:85804800-85805200	Active TSS	Brain Anterior Caudate	brain
14	chr13:85804800-85805200	Active TSS	Brain Substantia Nigra	brain
15	chr13:85804800-85805200	Active TSS	Fetal Kidney	kidney
16	chr13:85804800-85805200	Flanking Active TSS	Fetal Lung	lung
17	chr13:85804800-85805200	Enhancers	NHLF	lung
18	chr13:85805000-85805200	Enhancers	Brain Cingulate Gyrus	brain
19	chr13:85805000-85805200	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr13:85805200-85810600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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