Variant report

Variant	nsv528529
Chromosome Location	chr13:85128145-85133241
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr13:85132135-85132277	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
LINC00333	TF binding region

Extended variants
information (count: 205 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:205 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8000094	chr13:85128145-85128146	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563099007	chr13:85128153-85128154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139524859	chr13:85128175-85128176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117401497	chr13:85128196-85128197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561924854	chr13:85128215-85128216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6563401	chr13:85128254-85128255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs76794595	chr13:85128295-85128296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541056685	chr13:85128319-85128320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144344340	chr13:85128382-85128383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147792690	chr13:85128390-85128391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61960170	chr13:85128391-85128392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537840051	chr13:85128394-85128395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199697448	chr13:85128458-85128459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35254482	chr13:85128602-85128603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549632332	chr13:85128616-85128617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376138863	chr13:85128623-85128624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141176662	chr13:85128633-85128634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76091486	chr13:85128678-85128679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145018560	chr13:85128703-85128704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112892921	chr13:85128715-85128716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7320091	chr13:85128775-85128776	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs534676359	chr13:85128802-85128803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554273442	chr13:85128826-85128827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4885916	chr13:85128843-85128844	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs145870846	chr13:85128872-85128873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184045549	chr13:85128887-85128888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556877684	chr13:85128898-85128899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187499912	chr13:85128949-85128950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76189674	chr13:85128950-85128951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190932892	chr13:85128971-85128972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572456886	chr13:85128975-85128976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541468080	chr13:85129023-85129024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182310239	chr13:85129071-85129072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573177103	chr13:85129077-85129078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186634279	chr13:85129091-85129092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191920406	chr13:85129124-85129125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112625941	chr13:85129127-85129128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540402361	chr13:85129183-85129184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143775558	chr13:85129203-85129204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549882520	chr13:85129204-85129205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148131034	chr13:85129239-85129240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141340797	chr13:85129266-85129267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145069035	chr13:85129279-85129280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7985935	chr13:85129305-85129306	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs568095101	chr13:85129334-85129335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548283766	chr13:85129335-85129336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7986101	chr13:85129365-85129366	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs556940944	chr13:85129380-85129381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35915995	chr13:85129390-85129391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570351917	chr13:85129394-85129395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Epilepsy	20502679	CNVD
Non-small cell lung cancer	16651412	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85104400-85135000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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