Variant report

Variant	nsv976251
Chromosome Location	chr13:84982729-84998580
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 636 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:636 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114540129	chr13:84982752-84982753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541198590	chr13:84982772-84982773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183360678	chr13:84982773-84982774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187398565	chr13:84982791-84982792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192585057	chr13:84982812-84982813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374196112	chr13:84982830-84982831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111999462	chr13:84982831-84982832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12869709	chr13:84982848-84982849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs183216397	chr13:84982874-84982875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558815546	chr13:84982900-84982901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186818375	chr13:84982934-84982935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7320691	chr13:84982963-84982964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs192268051	chr13:84982993-84982994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77242638	chr13:84983035-84983036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547618470	chr13:84983042-84983043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185065701	chr13:84983043-84983044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143672158	chr13:84983076-84983077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556337781	chr13:84983103-84983104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189473551	chr13:84983185-84983186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77740208	chr13:84983193-84983194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373582181	chr13:84983201-84983202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558912441	chr13:84983225-84983226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556024765	chr13:84983247-84983248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566375188	chr13:84983256-84983257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71740217	chr13:84983275-84983276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192848793	chr13:84983283-84983284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184416726	chr13:84983293-84983294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574541375	chr13:84983299-84983300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543506126	chr13:84983388-84983389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563205562	chr13:84983409-84983410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532157049	chr13:84983421-84983422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576229844	chr13:84983455-84983456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9575567	chr13:84983494-84983495	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs562259749	chr13:84983497-84983498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9575568	chr13:84983507-84983508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs58038500	chr13:84983527-84983528	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs568509201	chr13:84983581-84983582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61960323	chr13:84983586-84983587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs7989180	chr13:84983625-84983626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188765815	chr13:84983649-84983650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371582363	chr13:84983796-84983797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533356604	chr13:84983864-84983865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570022981	chr13:84983869-84983870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9602472	chr13:84983874-84983875	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs181908570	chr13:84983880-84983881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572459750	chr13:84983908-84983909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534960793	chr13:84983919-84983920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538439915	chr13:84983930-84983931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74670713	chr13:84983933-84983934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554855841	chr13:84983934-84983935	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	21098271	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:84975800-84991800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:84987000-84987800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr13:84991600-84992600	Enhancers	NHEK	skin
4	chr13:84991600-84992600	Enhancers	Osteobl	bone
5	chr13:84991600-84992800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr13:84991800-84992200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr13:84991800-84992600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:84991800-84992800	Enhancers	HMEC	breast
9	chr13:84991800-84993000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr13:84991800-84993000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr13:84993000-85004400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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