Variant report

Variant	nsv968823
Chromosome Location	chr5:35701000-35703453
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560460134	chr5:35701014-35701015	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs6889546	chr5:35701017-35701018	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs548952954	chr5:35701050-35701051	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs551207085	chr5:35701067-35701068	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs75018663	chr5:35701136-35701137	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs6868260	chr5:35701137-35701138	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs73084316	chr5:35701173-35701174	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs186070646	chr5:35701239-35701240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367764505	chr5:35701253-35701254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533330489	chr5:35701259-35701260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539633240	chr5:35701301-35701302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371488609	chr5:35701348-35701349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566551475	chr5:35701350-35701351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148085443	chr5:35701351-35701352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12172997	chr5:35701415-35701416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs555733135	chr5:35701416-35701417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7709794	chr5:35701432-35701433	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs142790145	chr5:35701435-35701436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146025477	chr5:35701452-35701453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557955597	chr5:35701482-35701483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577939578	chr5:35701495-35701496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540424324	chr5:35701512-35701513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560475361	chr5:35701519-35701520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7709682	chr5:35701534-35701535	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs114044669	chr5:35701535-35701536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375795432	chr5:35701579-35701580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562526899	chr5:35701606-35701607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13156238	chr5:35701626-35701627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531174672	chr5:35701643-35701644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551491196	chr5:35701657-35701658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564618727	chr5:35701688-35701689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138766860	chr5:35701722-35701723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537642583	chr5:35701788-35701789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190400883	chr5:35701829-35701830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182707690	chr5:35701864-35701865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558025205	chr5:35701915-35701916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549374184	chr5:35701924-35701925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569265631	chr5:35701945-35701946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537828685	chr5:35701984-35701985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141713283	chr5:35702034-35702035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186985689	chr5:35702074-35702075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6874194	chr5:35702091-35702092	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs6873927	chr5:35702158-35702159	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs573853445	chr5:35702173-35702174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368825434	chr5:35702179-35702180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201457111	chr5:35702207-35702208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35297265	chr5:35702209-35702210	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs75452998	chr5:35702211-35702212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76617156	chr5:35702213-35702214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556168496	chr5:35702255-35702256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:35630600-35707600	Weak transcription	Pancreas	Pancrea
2	chr5:35672000-35708600	Weak transcription	Gastric	stomach
3	chr5:35681000-35707600	Weak transcription	Primary T cells from cord blood	blood
4	chr5:35684600-35708600	Weak transcription	Fetal Kidney	kidney
5	chr5:35684800-35703600	Weak transcription	Fetal Intestine Small	intestine
6	chr5:35686200-35709600	Weak transcription	Fetal Lung	lung
7	chr5:35691600-35702400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr5:35691800-35704000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:35693800-35714000	Weak transcription	Brain Anterior Caudate	brain
10	chr5:35695000-35711000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr5:35695200-35703000	Weak transcription	Brain Angular Gyrus	brain
12	chr5:35697000-35710600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr5:35697000-35717000	Weak transcription	Left Ventricle	heart
14	chr5:35697200-35708200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:35697200-35709600	Weak transcription	Right Ventricle	heart
16	chr5:35697600-35709000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr5:35697600-35709200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:35699000-35701000	Weak transcription	Aorta	Aorta
19	chr5:35699000-35711200	Weak transcription	Ovary	ovary
20	chr5:35699000-35711600	Weak transcription	Lung	lung
21	chr5:35699400-35720600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr5:35700400-35707800	Weak transcription	Thymus	Thymus
23	chr5:35701000-35701200	ZNF genes & repeats	Aorta	Aorta
24	chr5:35701200-35702400	Weak transcription	Aorta	Aorta
25	chr5:35702400-35702600	ZNF genes & repeats	Aorta	Aorta
26	chr5:35702400-35709800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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