Variant report

Variant	nsv515831
Chromosome Location	chr5:35706279-35723861
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:35697548..35700372-chr5:35714640..35716643,2	MCF-7	breast:
2	chr5:35705714..35707847-chr5:35709289..35711545,3	MCF-7	breast:
3	chr5:35705714..35707847-chr5:35709289..35711545,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CAPSL-3	chr5:35723089-35723319	NONHSAT101014

Extended variants
information (count: 740 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:740 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9292602	chr5:35706279-35706280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564367661	chr5:35706297-35706298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371105821	chr5:35706320-35706321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34898636	chr5:35706396-35706397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9292603	chr5:35706439-35706440	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs34548273	chr5:35706451-35706452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9292604	chr5:35706536-35706537	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs559846217	chr5:35706556-35706557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9292605	chr5:35706606-35706607	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs548767536	chr5:35706653-35706654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568671995	chr5:35706688-35706689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73084356	chr5:35706779-35706780	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs550910376	chr5:35706813-35706814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10070515	chr5:35706817-35706818	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs183639087	chr5:35706822-35706823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527823845	chr5:35706834-35706835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs367722791	chr5:35706879-35706880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547597207	chr5:35706930-35706931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552955463	chr5:35706966-35706967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567478893	chr5:35706999-35707000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573128928	chr5:35707051-35707052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs151297140	chr5:35707052-35707053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34025519	chr5:35707065-35707066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555566367	chr5:35707085-35707086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115336080	chr5:35707108-35707109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544408479	chr5:35707124-35707125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs117660978	chr5:35707132-35707133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577999723	chr5:35707147-35707148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7733039	chr5:35707293-35707294	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs114821466	chr5:35707357-35707358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7713174	chr5:35707388-35707389	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs373221378	chr5:35707426-35707427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140574596	chr5:35707441-35707442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188635209	chr5:35707520-35707521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191425747	chr5:35707563-35707564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570665764	chr5:35707599-35707600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533469617	chr5:35707662-35707663	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs546945224	chr5:35707666-35707667	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs566894792	chr5:35707673-35707674	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs35505750	chr5:35707707-35707708	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs10064667	chr5:35707708-35707709	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs569259027	chr5:35707712-35707713	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs373510951	chr5:35707756-35707757	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs9292606	chr5:35707759-35707760	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs558004043	chr5:35707781-35707782	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs184069796	chr5:35707799-35707800	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs540566334	chr5:35707806-35707807	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553760897	chr5:35707811-35707812	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10064741	chr5:35707827-35707828	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs10064633	chr5:35707840-35707841	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:101)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Prostate cancer	21147910	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

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	chr5:35686200-35709600	Weak transcription	Fetal Lung	lung
6	chr5:35693800-35714000	Weak transcription	Brain Anterior Caudate	brain
7	chr5:35695000-35711000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr5:35697000-35710600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr5:35697000-35717000	Weak transcription	Left Ventricle	heart
10	chr5:35697200-35708200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:35697200-35709600	Weak transcription	Right Ventricle	heart
12	chr5:35697600-35709000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr5:35697600-35709200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:35699000-35711200	Weak transcription	Ovary	ovary
15	chr5:35699000-35711600	Weak transcription	Lung	lung
16	chr5:35699400-35720600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr5:35700400-35707800	Weak transcription	Thymus	Thymus
18	chr5:35702400-35709800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:35706400-35711000	Weak transcription	Brain Substantia Nigra	brain
20	chr5:35706600-35706800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr5:35706800-35708800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr5:35707600-35707800	ZNF genes & repeats	Pancreas	Pancrea
23	chr5:35707600-35708000	Enhancers	Primary T cells from cord blood	blood
24	chr5:35707600-35708000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr5:35707800-35708000	Strong transcription	Pancreas	Pancrea
26	chr5:35707800-35708000	Enhancers	Thymus	Thymus
27	chr5:35708000-35708600	Weak transcription	Pancreas	Pancrea
28	chr5:35708000-35709400	Weak transcription	Primary T cells from cord blood	blood
29	chr5:35708200-35710800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr5:35708600-35708800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:35708600-35708800	ZNF genes & repeats	Fetal Intestine Large	intestine
32	chr5:35708600-35708800	ZNF genes & repeats	Gastric	stomach
33	chr5:35708600-35708800	ZNF genes & repeats	Pancreas	Pancrea
34	chr5:35708600-35709600	Strong transcription	Fetal Kidney	kidney
35	chr5:35708800-35709000	Weak transcription	Gastric	stomach
36	chr5:35708800-35709600	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr5:35708800-35710000	Weak transcription	Fetal Intestine Large	intestine
38	chr5:35709000-35709400	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr5:35709000-35710000	Enhancers	Primary hematopoietic stem cells	blood
40	chr5:35709000-35710000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:35709200-35710000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:35709400-35709600	Enhancers	Primary T cells from cord blood	blood
43	chr5:35709600-35710800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr5:35709600-35711800	Weak transcription	Fetal Kidney	kidney
45	chr5:35710800-35711200	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr5:35710800-35712400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr5:35718000-35718600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:35718200-35719200	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr5:35718400-35718800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr5:35718400-35719200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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