Variant report

Variant	nsv1023648
Chromosome Location	chr5:17742191-17771787
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	chr5:17737382..17739045-chr5:17741320..17743486,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BASP1-7	chr5:17769003-17769093	NONHSAT100665
2	lnc-BASP1-7	chr5:17769003-17769093	ENSG00000249937

Extended variants
information (count: 681 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:681 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550293542	chr5:17743242-17743243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570289574	chr5:17743252-17743253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533395381	chr5:17743254-17743255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549667040	chr5:17743289-17743290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190378486	chr5:17743301-17743302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183384125	chr5:17743311-17743312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77172515	chr5:17743313-17743314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74326331	chr5:17743314-17743315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142223852	chr5:17743317-17743318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553315136	chr5:17743402-17743403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570107137	chr5:17743432-17743433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116679483	chr5:17743549-17743550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555819881	chr5:17743555-17743556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375472956	chr5:17743659-17743660	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs4011432	chr5:17743676-17743677	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs371540617	chr5:17743705-17743706	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs576200274	chr5:17743721-17743722	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs541629831	chr5:17743756-17743757	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs188712083	chr5:17743799-17743800	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs572992156	chr5:17743824-17743825	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs572203462	chr5:17743850-17743851	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs147837191	chr5:17743859-17743860	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs377364237	chr5:17743902-17743903	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs141355989	chr5:17743936-17743937	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs145198407	chr5:17743966-17743967	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs543967001	chr5:17743976-17743977	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs147610482	chr5:17743983-17743984	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs140791091	chr5:17744005-17744006	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs150113809	chr5:17744011-17744012	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs191183570	chr5:17744040-17744041	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs6867540	chr5:17744062-17744063	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs138412195	chr5:17744076-17744077	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs148813370	chr5:17744123-17744124	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs370417502	chr5:17744145-17744146	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs373329376	chr5:17744164-17744165	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs377515114	chr5:17744188-17744189	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs75065216	chr5:17744189-17744190	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs535645490	chr5:17744193-17744194	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs182556494	chr5:17744200-17744201	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs143820511	chr5:17744203-17744204	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs555810564	chr5:17744256-17744257	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs567588284	chr5:17744272-17744273	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs540516495	chr5:17744355-17744356	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs578083136	chr5:17744378-17744379	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs142975327	chr5:17744418-17744419	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79376681	chr5:17744428-17744429	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375405025	chr5:17744492-17744493	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187721642	chr5:17744497-17744498	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556544859	chr5:17744508-17744509	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146134429	chr5:17744543-17744544	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17743200-17743600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:17743200-17743600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:17743200-17743600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:17743400-17743600	Enhancers	NH-A	brain
5	chr5:17743400-17743800	Enhancers	Aorta	Aorta
6	chr5:17743400-17743800	Enhancers	Osteobl	bone
7	chr5:17743400-17744200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:17743400-17744400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:17743600-17743800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:17743600-17743800	Enhancers	A549	lung
11	chr5:17743600-17744000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:17743600-17744200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:17743600-17744400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:17743600-17744600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:17743600-17744600	Enhancers	Hela-S3	cervix
16	chr5:17743600-17744600	Flanking Active TSS	NH-A	brain
17	chr5:17743800-17744000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:17743800-17744000	Active TSS	Aorta	Aorta
19	chr5:17743800-17744000	Flanking Active TSS	Osteobl	bone
20	chr5:17743800-17744200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:17743800-17744400	Flanking Active TSS	A549	lung
22	chr5:17744000-17744200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:17744000-17744200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:17744000-17744200	Flanking Active TSS	Aorta	Aorta
25	chr5:17744000-17744600	Active TSS	Osteobl	bone
26	chr5:17744200-17744400	Active TSS	Aorta	Aorta
27	chr5:17744200-17744600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:17744200-17744600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:17744400-17745000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:17744400-17748400	Weak transcription	A549	lung
31	chr5:17744600-17745000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:17744600-17745200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:17744600-17745200	Enhancers	NH-A	brain
34	chr5:17747400-17749400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr5:17747800-17748800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:17748200-17748400	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr5:17748200-17749400	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr5:17748400-17748800	Enhancers	A549	lung
39	chr5:17748400-17749400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr5:17760400-17761000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:17761000-17761400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr5:17761000-17761800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:17761400-17761600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:17761600-17764600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:17761800-17763000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:17762800-17764000	Enhancers	NH-A	brain
47	chr5:17763000-17763400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:17763000-17764000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:17763000-17764200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr5:17763600-17764000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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