Variant report

Variant	nsv597973
Chromosome Location	chr5:45285718-45457077
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:45389967..45392520-chr5:45393920..45396887,2	K562	blood:
2	chr3:104438340..104439030-chr5:45401914..45402431,2	MCF-7	breast:
3	chr5:45292372..45295265-chr5:45301198..45304020,2	MCF-7	breast:
4	chr5:45389967..45392520-chr5:45393920..45396887,2	K562	blood:
5	chr5:45423533..45425292-chr5:45434104..45435924,2	MCF-7	breast:
6	chr5:45423533..45425292-chr5:45434104..45435924,2	MCF-7	breast:
7	chr5:45292372..45295265-chr5:45301198..45304020,2	MCF-7	breast:
8	chr5:45232284..45234490-chr5:45416046..45418115,2	MCF-7	breast:
9	chr5:45435601..45437646-chr5:45441992..45444757,2	K562	blood:
10	chr5:45435601..45437646-chr5:45441992..45444757,2	K562	blood:

No data

Extended variants
information (count: 2018 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2018 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs981782	chr5:45285718-45285719	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs189307767	chr5:45285750-45285751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs16902086	chr5:45285752-45285753	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs145024205	chr5:45285778-45285779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113023848	chr5:45285803-45285804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539678957	chr5:45285836-45285837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556078308	chr5:45285886-45285887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541893481	chr5:45285892-45285893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141912940	chr5:45285906-45285907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115955655	chr5:45285997-45285998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554417490	chr5:45286003-45286004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs180995694	chr5:45286004-45286005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111790469	chr5:45286012-45286013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540599796	chr5:45286060-45286061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538232733	chr5:45286076-45286077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563870527	chr5:45286083-45286084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148105642	chr5:45286084-45286085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs16902088	chr5:45286097-45286098	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs185113221	chr5:45286099-45286100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199810488	chr5:45286122-45286123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201134344	chr5:45286148-45286149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529598977	chr5:45286151-45286152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373407107	chr5:45286160-45286161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376545213	chr5:45286234-45286235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371168844	chr5:45286236-45286237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566103399	chr5:45286252-45286253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559515440	chr5:45286254-45286255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535047206	chr5:45286271-45286272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562590949	chr5:45286286-45286287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72759957	chr5:45286288-45286289	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs571810527	chr5:45286292-45286293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537149706	chr5:45286349-45286350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531830173	chr5:45286352-45286353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs17343612	chr5:45286358-45286359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187963599	chr5:45286379-45286380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535758970	chr5:45286382-45286383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555400826	chr5:45286455-45286456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181269530	chr5:45286512-45286513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540663988	chr5:45286540-45286541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10060119	chr5:45286552-45286553	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs186366059	chr5:45286582-45286583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543108713	chr5:45286654-45286655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79881187	chr5:45286708-45286709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150662764	chr5:45286839-45286840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74907907	chr5:45286840-45286841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529655599	chr5:45286843-45286844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543186618	chr5:45286845-45286846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560123875	chr5:45286866-45286867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377415708	chr5:45286877-45286878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528785970	chr5:45286910-45286911	Weak transcription	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
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
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	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
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
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45281400-45287800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr5:45284800-45288000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:45285000-45288600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:45285200-45288400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:45285200-45288400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:45285400-45287800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:45287800-45289000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr5:45287800-45289600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:45287800-45289800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:45287800-45289800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr5:45288000-45288800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:45288000-45289000	Enhancers	H9 Cell Line	embryonic stem cell
13	chr5:45288400-45288800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr5:45288400-45289600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr5:45288400-45289800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:45288400-45289800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr5:45288400-45290000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:45288600-45289400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:45288800-45290000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:45289000-45290000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr5:45289600-45290200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr5:45290000-45290400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:45290000-45290600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
24	chr5:45290200-45290600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
25	chr5:45296800-45298000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
26	chr5:45310800-45312800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
27	chr5:45333800-45334400	Enhancers	Fetal Heart	heart
28	chr5:45334400-45335000	Flanking Active TSS	Fetal Heart	heart
29	chr5:45334400-45336800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr5:45334600-45337000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr5:45335000-45337000	Enhancers	Fetal Heart	heart
32	chr5:45344800-45345400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:45345600-45347200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
34	chr5:45345600-45347200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
35	chr5:45345800-45347000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
36	chr5:45345800-45347000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
37	chr5:45347000-45347400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:45353600-45354200	Enhancers	Fetal Brain Male	brain
39	chr5:45361400-45361600	Enhancers	Pancreas	Pancrea
40	chr5:45361600-45363400	Weak transcription	Pancreas	Pancrea
41	chr5:45363400-45363600	Enhancers	Pancreas	Pancrea
42	chr5:45376400-45377200	Enhancers	HUVEC	blood vessel
43	chr5:45376400-45380200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr5:45380200-45380400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr5:45380400-45380600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr5:45383000-45383200	Enhancers	Hela-S3	cervix
47	chr5:45383400-45385200	Weak transcription	Hela-S3	cervix
48	chr5:45384000-45385600	Enhancers	HUVEC	blood vessel
49	chr5:45384200-45385800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:45384800-45385400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links