Variant report

Variant	nsv521873
Chromosome Location	chr13:85512143-85514351
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9593956	chr13:85512143-85512144	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190644847	chr13:85512157-85512158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149383434	chr13:85512171-85512172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554410783	chr13:85512214-85512215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370353040	chr13:85512219-85512220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533915529	chr13:85512290-85512291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535696672	chr13:85512298-85512299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7988117	chr13:85512370-85512371	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs576994314	chr13:85512409-85512410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537736281	chr13:85512414-85512415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73538380	chr13:85512487-85512488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs181984731	chr13:85512489-85512490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541775366	chr13:85512512-85512513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572815829	chr13:85512540-85512541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560127321	chr13:85512542-85512543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368754462	chr13:85512616-85512617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540146479	chr13:85512641-85512642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558446789	chr13:85512662-85512663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572200114	chr13:85512673-85512674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546326659	chr13:85512712-85512713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186149739	chr13:85512714-85512715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553341957	chr13:85512750-85512751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531897823	chr13:85512795-85512796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113008026	chr13:85512946-85512947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9546952	chr13:85512981-85512982	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs562358383	chr13:85512986-85512987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75337552	chr13:85512992-85512993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529620583	chr13:85513007-85513008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370653143	chr13:85513043-85513044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548199136	chr13:85513075-85513076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543766341	chr13:85513107-85513108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566519999	chr13:85513117-85513118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533849773	chr13:85513118-85513119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552282483	chr13:85513179-85513180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570469854	chr13:85513249-85513250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371140197	chr13:85513260-85513261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538017569	chr13:85513272-85513273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545555424	chr13:85513292-85513293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574350789	chr13:85513312-85513313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535403335	chr13:85513382-85513383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12865607	chr13:85513406-85513407	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs529643816	chr13:85513414-85513415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9531677	chr13:85513455-85513456	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs7995901	chr13:85513470-85513471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs576460257	chr13:85513471-85513472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543953212	chr13:85513498-85513499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144746742	chr13:85513571-85513572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529609883	chr13:85513595-85513596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548137320	chr13:85513600-85513601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560174882	chr13:85513601-85513602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Schizophrenia	23813976	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85499800-85526600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:85508400-85516000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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