Variant report

Variant	nsv4746
Chromosome Location	chr5:17705460-17749209
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:17737382..17739045-chr5:17741320..17743486,2	K562	blood:
2	chr5:17702899..17705763-chr5:17710587..17714118,3	MCF-7	breast:
3	chr5:17719378..17721402-chr5:17724190..17726007,2	MCF-7	breast:
4	chr5:17702899..17705763-chr5:17710587..17714118,3	MCF-7	breast:
5	chr5:17737382..17739045-chr5:17741320..17743486,2	K562	blood:
6	chr5:17719378..17721402-chr5:17724190..17726007,2	MCF-7	breast:

Extended variants
information (count: 888 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:888 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181695986	chr5:17711844-17711845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559391591	chr5:17711847-17711848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10472228	chr5:17711860-17711861	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs10472229	chr5:17711890-17711891	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs187676521	chr5:17711898-17711899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530791861	chr5:17711916-17711917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191982842	chr5:17711918-17711919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144287110	chr5:17711984-17711985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574798616	chr5:17712049-17712050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375623699	chr5:17712106-17712107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367743073	chr5:17712135-17712136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371845477	chr5:17712136-17712137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375902561	chr5:17712158-17712159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140494597	chr5:17712167-17712168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530226753	chr5:17712170-17712171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199492728	chr5:17712188-17712189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115563684	chr5:17712199-17712200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566952969	chr5:17712262-17712263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538890706	chr5:17712266-17712267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559089947	chr5:17712267-17712268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569221725	chr5:17712275-17712276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538119693	chr5:17712367-17712368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556540236	chr5:17712409-17712410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7710511	chr5:17712479-17712480	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs148318132	chr5:17712514-17712515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552823451	chr5:17712551-17712552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572882020	chr5:17712600-17712601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544891604	chr5:17712614-17712615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183902404	chr5:17712636-17712637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143018998	chr5:17712653-17712654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557543629	chr5:17712708-17712709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1913601	chr5:17712733-17712734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571979262	chr5:17712753-17712754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370392715	chr5:17712755-17712756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550451211	chr5:17712760-17712761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530085856	chr5:17712794-17712795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546950759	chr5:17712799-17712800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566884806	chr5:17712850-17712851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532602321	chr5:17712887-17712888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552517042	chr5:17712983-17712984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147467060	chr5:17712984-17712985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139848775	chr5:17713006-17713007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200565869	chr5:17713018-17713019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371000622	chr5:17713032-17713033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34249467	chr5:17713033-17713034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs397894888	chr5:17713036-17713037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533757858	chr5:17713106-17713107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs185381960	chr5:17713111-17713112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189731287	chr5:17713136-17713137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568977518	chr5:17713156-17713157	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21364760	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Melanoma	22183965	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17711800-17712000	Enhancers	A549	lung
2	chr5:17712000-17712800	Weak transcription	A549	lung
3	chr5:17712800-17713400	Enhancers	A549	lung
4	chr5:17713400-17713800	ZNF genes & repeats	Fetal Kidney	kidney
5	chr5:17713400-17713800	Flanking Active TSS	A549	lung
6	chr5:17713600-17714000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr5:17713800-17714200	Enhancers	A549	lung
8	chr5:17719800-17720200	Enhancers	Brain Germinal Matrix	brain
9	chr5:17719800-17720400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:17719800-17720800	Enhancers	Fetal Muscle Leg	muscle
11	chr5:17719800-17721000	Enhancers	Fetal Lung	lung
12	chr5:17720000-17720400	Enhancers	Fetal Stomach	stomach
13	chr5:17720200-17721000	Enhancers	Fetal Muscle Trunk	muscle
14	chr5:17726800-17728200	Enhancers	Hela-S3	cervix
15	chr5:17727200-17727800	Enhancers	Brain Germinal Matrix	brain
16	chr5:17728200-17732000	Weak transcription	Hela-S3	cervix
17	chr5:17731600-17733400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:17732000-17733000	Enhancers	Hela-S3	cervix
19	chr5:17733400-17738000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:17733600-17734600	Enhancers	Fetal Lung	lung
21	chr5:17735400-17736800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr5:17736800-17739600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr5:17738000-17739600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:17738400-17739200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:17738600-17739000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr5:17739600-17740400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr5:17743200-17743600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:17743200-17743600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:17743200-17743600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:17743400-17743600	Enhancers	NH-A	brain
31	chr5:17743400-17743800	Enhancers	Aorta	Aorta
32	chr5:17743400-17743800	Enhancers	Osteobl	bone
33	chr5:17743400-17744200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:17743400-17744400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:17743600-17743800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:17743600-17743800	Enhancers	A549	lung
37	chr5:17743600-17744000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:17743600-17744200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:17743600-17744400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:17743600-17744600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:17743600-17744600	Enhancers	Hela-S3	cervix
42	chr5:17743600-17744600	Flanking Active TSS	NH-A	brain
43	chr5:17743800-17744000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:17743800-17744000	Active TSS	Aorta	Aorta
45	chr5:17743800-17744000	Flanking Active TSS	Osteobl	bone
46	chr5:17743800-17744200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:17743800-17744400	Flanking Active TSS	A549	lung
48	chr5:17744000-17744200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr5:17744000-17744200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:17744000-17744200	Flanking Active TSS	Aorta	Aorta

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