Variant report

Variant	nsv900717
Chromosome Location	chr13:85543312-85582307
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 432 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:432 , 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	rs371695944	chr13:85547004-85547005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75496109	chr13:85547086-85547087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112167422	chr13:85547096-85547097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72633312	chr13:85547097-85547098	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs190859794	chr13:85547098-85547099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9546995	chr13:85547170-85547171	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs563407171	chr13:85547193-85547194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377094402	chr13:85547823-85547824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563370376	chr13:85547830-85547831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369842776	chr13:85547870-85547871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143253382	chr13:85547883-85547884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530628789	chr13:85547884-85547885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9546997	chr13:85547901-85547902	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs561093287	chr13:85547930-85547931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112299148	chr13:85547958-85547959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376135664	chr13:85547960-85547961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187502164	chr13:85547968-85547969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564867962	chr13:85548051-85548052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529482967	chr13:85548063-85548064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200104307	chr13:85548065-85548066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550610016	chr13:85548066-85548067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569002424	chr13:85548069-85548070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548098245	chr13:85548145-85548146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191475743	chr13:85548168-85548169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116091916	chr13:85548184-85548185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563121629	chr13:85548191-85548192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567027372	chr13:85548197-85548198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs7319821	chr13:85548207-85548208	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs139989564	chr13:85548222-85548223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577658205	chr13:85548248-85548249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539861531	chr13:85548252-85548253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538626887	chr13:85548255-85548256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182916117	chr13:85548259-85548260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575132109	chr13:85548298-85548299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368572582	chr13:85548377-85548378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116192929	chr13:85548378-85548379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75946858	chr13:85548379-85548380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572980750	chr13:85548425-85548426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540083769	chr13:85548472-85548473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564836142	chr13:85548502-85548503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35215892	chr13:85548512-85548513	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs550471322	chr13:85548513-85548514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145414568	chr13:85548524-85548525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530062029	chr13:85548530-85548531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548647891	chr13:85548531-85548532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566880700	chr13:85548555-85548556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9575699	chr13:85548594-85548595	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs71208662	chr13:85548645-85548646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77680017	chr13:85548647-85548648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61674775	chr13:85548649-85548650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85547000-85547200	Enhancers	Gastric	stomach
2	chr13:85547800-85548400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:85547800-85548400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:85547800-85548600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr13:85547800-85548600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr13:85547800-85548600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr13:85547800-85549400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr13:85548000-85548400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr13:85548000-85548400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr13:85548000-85548400	Enhancers	Fetal Kidney	kidney
11	chr13:85548000-85548600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr13:85548000-85548600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr13:85548200-85548600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr13:85548400-85552400	Weak transcription	Fetal Kidney	kidney
15	chr13:85548600-85549000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr13:85548600-85550000	Enhancers	Primary B cells from cord blood	blood
17	chr13:85549000-85549200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr13:85549200-85552600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr13:85549400-85552600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr13:85552400-85553000	Enhancers	Fetal Kidney	kidney
21	chr13:85552600-85553200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr13:85552600-85555200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr13:85553200-85554200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr13:85554200-85555000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr13:85567600-85568000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr13:85568000-85568400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr13:85568400-85569200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr13:85568600-85568800	Enhancers	A549	lung
29	chr13:85568600-85569400	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr13:85568600-85569400	Enhancers	Stomach Mucosa	stomach
31	chr13:85568800-85569200	Active TSS	A549	lung
32	chr13:85569000-85569400	Enhancers	HepG2	liver
33	chr13:85569200-85569400	Flanking Active TSS	A549	lung

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