Variant report

Variant	nsv823063
Chromosome Location	chr5:43784501-43786658
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:43783392..43784913-chr5:43786417..43788258,2	K562	blood:
2	chr5:43783392..43784913-chr5:43786417..43788258,2	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553500774	chr5:43784543-43784544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551647040	chr5:43784581-43784582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112375856	chr5:43784590-43784591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573469661	chr5:43784616-43784617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181195888	chr5:43784690-43784691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557507025	chr5:43784731-43784732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138546165	chr5:43784744-43784745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377055613	chr5:43784747-43784748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577549396	chr5:43784769-43784770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543568301	chr5:43784776-43784777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557112041	chr5:43784791-43784792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571873994	chr5:43784800-43784801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539184011	chr5:43784824-43784825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150187986	chr5:43784838-43784839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187112412	chr5:43784871-43784872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375868170	chr5:43784909-43784910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528421084	chr5:43784931-43784932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557263834	chr5:43784935-43784936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190499464	chr5:43784993-43784994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565170974	chr5:43784996-43784997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183456998	chr5:43785077-43785078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35414768	chr5:43785109-43785110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138856309	chr5:43785115-43785116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567439442	chr5:43785119-43785120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537377183	chr5:43785130-43785131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530096684	chr5:43785132-43785133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78934920	chr5:43785214-43785215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546883776	chr5:43785239-43785240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567053993	chr5:43785277-43785278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532625368	chr5:43785296-43785297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376712726	chr5:43785300-43785301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs4348224	chr5:43785365-43785366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186285588	chr5:43785367-43785368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35023467	chr5:43785387-43785388	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs537057410	chr5:43785388-43785389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556955302	chr5:43785419-43785420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183003650	chr5:43785430-43785431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542739394	chr5:43785439-43785440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552931694	chr5:43785463-43785464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572978835	chr5:43785492-43785493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187535628	chr5:43785499-43785500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs74990615	chr5:43785540-43785541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530684752	chr5:43785599-43785600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551423573	chr5:43785605-43785606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558981106	chr5:43785616-43785617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544211092	chr5:43785623-43785624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560902366	chr5:43785627-43785628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530181560	chr5:43785637-43785638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs72760500	chr5:43785673-43785674	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs566979465	chr5:43785754-43785755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
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
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	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
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43771400-43785000	Weak transcription	Fetal Stomach	stomach
2	chr5:43785000-43785800	Enhancers	Fetal Stomach	stomach
3	chr5:43785200-43785600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:43785200-43785600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:43785200-43785600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr5:43785200-43785600	Enhancers	Stomach Smooth Muscle	stomach
7	chr5:43785200-43785800	Enhancers	Psoas Muscle	Psoas
8	chr5:43785600-43789400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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