Variant report

Variant	nsv881204
Chromosome Location	chr5:45400390-45478771
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:45423533..45425292-chr5:45434104..45435924,2	MCF-7	breast:
2	chr5:45423533..45425292-chr5:45434104..45435924,2	MCF-7	breast:
3	chr5:45232284..45234490-chr5:45416046..45418115,2	MCF-7	breast:
4	chr3:104438340..104439030-chr5:45401914..45402431,2	MCF-7	breast:
5	chr5:45435601..45437646-chr5:45441992..45444757,2	K562	blood:
6	chr5:45468898..45471467-chr5:45477657..45479826,2	MCF-7	breast:
7	chr1:205318512..205319277-chr5:45469628..45470349,2	MCF-7	breast:
8	chr5:45468898..45471467-chr5:45477657..45479826,2	MCF-7	breast:
9	chr5:45435601..45437646-chr5:45441992..45444757,2	K562	blood:

No data

Extended variants
information (count: 858 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:858 , 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	rs11948518	chr5:45400390-45400391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570503636	chr5:45400407-45400408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574142118	chr5:45400408-45400409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541820226	chr5:45400497-45400498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113709740	chr5:45400500-45400501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs202030715	chr5:45400531-45400532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547249075	chr5:45400566-45400567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563740429	chr5:45400576-45400577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374646582	chr5:45400579-45400580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368206796	chr5:45400593-45400594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183483728	chr5:45400608-45400609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569714358	chr5:45400625-45400626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535696385	chr5:45400626-45400627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149612651	chr5:45400647-45400648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566103974	chr5:45400672-45400673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372415167	chr5:45400701-45400702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535341120	chr5:45400743-45400744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555032541	chr5:45400793-45400794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558463694	chr5:45400799-45400800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113890349	chr5:45400808-45400809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190965893	chr5:45400842-45400843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557202517	chr5:45400851-45400852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574076800	chr5:45400866-45400867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556188675	chr5:45400935-45400936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574546676	chr5:45400954-45400955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144354993	chr5:45400958-45400959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561929220	chr5:45400961-45400962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371872812	chr5:45400965-45400966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572097248	chr5:45400987-45400988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540948501	chr5:45401013-45401014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183158745	chr5:45401043-45401044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541673142	chr5:45401102-45401103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186767490	chr5:45401112-45401113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148422753	chr5:45401141-45401142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563283105	chr5:45401148-45401149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79976696	chr5:45401200-45401201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34477193	chr5:45401271-45401272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374880929	chr5:45401352-45401353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191241161	chr5:45401400-45401401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566285807	chr5:45401401-45401402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553219876	chr5:45401438-45401439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535198309	chr5:45401445-45401446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552138065	chr5:45401447-45401448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571949199	chr5:45401456-45401457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56350918	chr5:45401457-45401458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185066080	chr5:45401494-45401495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370203113	chr5:45401499-45401500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187991973	chr5:45401509-45401510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572185432	chr5:45401524-45401525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536753894	chr5:45401533-45401534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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	18451855	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45398200-45403000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:45399400-45403000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:45402800-45403800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:45403000-45403400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:45403000-45403800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:45403000-45403800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:45403200-45403600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:45403200-45403800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr5:45403200-45403800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:45403200-45403800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr5:45403200-45403800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:45403200-45404200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr5:45403400-45404200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr5:45403600-45404000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:45403800-45405600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:45403800-45410600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:45404000-45404200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:45404200-45419200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:45407600-45410800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:45410200-45411400	Enhancers	Fetal Heart	heart
21	chr5:45410400-45412600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:45410600-45411000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:45410800-45411000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr5:45410800-45411200	Enhancers	Hela-S3	cervix
25	chr5:45411000-45411200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:45411000-45411600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr5:45411000-45412000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr5:45411200-45411400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:45411200-45411600	Weak transcription	Hela-S3	cervix
30	chr5:45411600-45412000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr5:45411600-45412800	Enhancers	Hela-S3	cervix
32	chr5:45411800-45412600	Enhancers	Fetal Intestine Small	intestine
33	chr5:45412000-45412600	Enhancers	HUVEC	blood vessel
34	chr5:45412000-45412800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr5:45412000-45412800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr5:45412000-45412800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr5:45412000-45413000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr5:45412400-45413000	Enhancers	H1 Cell Line	embryonic stem cell
39	chr5:45412400-45413000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:45412600-45414200	Weak transcription	Fetal Intestine Small	intestine
41	chr5:45412600-45415400	Weak transcription	Pancreas	Pancrea
42	chr5:45412800-45413000	Enhancers	Fetal Intestine Large	intestine
43	chr5:45412800-45416800	Weak transcription	Hela-S3	cervix
44	chr5:45413200-45414200	Weak transcription	Fetal Intestine Large	intestine
45	chr5:45414200-45416000	Enhancers	Fetal Intestine Large	intestine
46	chr5:45414200-45416000	Enhancers	Fetal Intestine Small	intestine
47	chr5:45414600-45415000	Enhancers	Liver	Liver
48	chr5:45414600-45415600	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr5:45414600-45415800	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr5:45415400-45415800	Enhancers	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links