Variant report

Variant	nsv1034670
Chromosome Location	chr5:46101845-46389261
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:121483702..121485225-chr5:46334811..46336331,2	MCF-7	breast:
2	chr4:68265057..68265577-chr5:46205420..46205943,2	MCF-7	breast:
3	chr1:175202235..175203755-chr5:46204424..46205944,2	MCF-7	breast:
4	chr17:57915525..57918399-chr5:46361638..46364174,2	MCF-7	breast:
5	chr1:63102529..63105125-chr5:46100658..46103318,2	MCF-7	breast:

Extended variants
information (count: 20323 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:20323 , 50 per page) page: 1 2 3 4 5 6 7 ... 407

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368640168	chr5:46109606-46109607	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs181795331	chr5:46109616-46109617	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs186445170	chr5:46109618-46109619	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs575679118	chr5:46109620-46109621	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs190523926	chr5:46109628-46109629	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs561586115	chr5:46109668-46109669	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs183088774	chr5:46109675-46109676	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs547362218	chr5:46109690-46109691	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs560178965	chr5:46109691-46109692	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs532176004	chr5:46109703-46109704	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs187630448	chr5:46109712-46109713	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs568884004	chr5:46109717-46109718	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs538011640	chr5:46109730-46109731	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs191095613	chr5:46109762-46109763	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs115610756	chr5:46109767-46109768	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs568298954	chr5:46109770-46109771	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs533834816	chr5:46109778-46109779	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs553691850	chr5:46109793-46109794	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs572887512	chr5:46109810-46109811	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs536625636	chr5:46109821-46109822	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs77167824	chr5:46109850-46109851	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs147885182	chr5:46109854-46109855	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs183456537	chr5:46109884-46109885	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs187571496	chr5:46109893-46109894	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs561318336	chr5:46109897-46109898	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs112097302	chr5:46109902-46109903	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs113519180	chr5:46109913-46109914	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs540910275	chr5:46109916-46109917	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs192738572	chr5:46109918-46109919	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs75091416	chr5:46109921-46109922	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs562564177	chr5:46109923-46109924	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs573445377	chr5:46109928-46109929	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs114820564	chr5:46109961-46109962	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs372558448	chr5:46109966-46109967	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs184537541	chr5:46109975-46109976	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs149978416	chr5:46113802-46113803	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs550413068	chr5:46113810-46113811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs77783213	chr5:46113815-46113816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs570020697	chr5:46113824-46113825	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs114492476	chr5:46113840-46113841	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs554936490	chr5:46113858-46113859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs576879138	chr5:46113862-46113863	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs182524515	chr5:46113863-46113864	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs187226644	chr5:46113875-46113876	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs145213513	chr5:46113876-46113877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs79548730	chr5:46113886-46113887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs543268313	chr5:46113888-46113889	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs557253071	chr5:46113889-46113890	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs192204158	chr5:46113900-46113901	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs7714540	chr5:46113931-46113932	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:78)

Disease	PMID	Source
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
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
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:766 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:46109600-46110000	Active TSS	Fetal Heart	heart
2	chr5:46113800-46114400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr5:46116400-46118000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr5:46118800-46127400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:46120200-46123000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr5:46121400-46124000	ZNF genes & repeats	Liver	Liver
7	chr5:46127800-46129400	ZNF genes & repeats	Liver	Liver
8	chr5:46129000-46129400	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr5:46130800-46131600	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr5:46131000-46131600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:46138600-46140600	ZNF genes & repeats	Liver	Liver
12	chr5:46140800-46144000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr5:46146200-46152200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:46146400-46148800	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr5:46147800-46151200	ZNF genes & repeats	Liver	Liver
16	chr5:46148400-46152000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr5:46149800-46150200	ZNF genes & repeats	Psoas Muscle	Psoas
18	chr5:46150600-46152000	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr5:46152600-46154000	ZNF genes & repeats	Adipose Nuclei	Adipose
20	chr5:46153200-46154000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:46160400-46162000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr5:46166600-46171400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:46166800-46170800	ZNF genes & repeats	Liver	Liver
24	chr5:46167200-46169200	ZNF genes & repeats	Adipose Nuclei	Adipose
25	chr5:46167400-46169800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
26	chr5:46167400-46171200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
27	chr5:46168600-46169400	ZNF genes & repeats	Brain Anterior Caudate	brain
28	chr5:46168800-46169000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:46168800-46169000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
30	chr5:46168800-46169000	ZNF genes & repeats	HUVEC	blood vessel
31	chr5:46168800-46169000	Enhancers	K562	blood
32	chr5:46168800-46169200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
33	chr5:46172600-46176400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:46173800-46181000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
35	chr5:46174200-46174400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
36	chr5:46174200-46174600	Active TSS	Aorta	Aorta
37	chr5:46174600-46176600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
38	chr5:46176000-46176400	Active TSS	Fetal Heart	heart
39	chr5:46177600-46179200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
40	chr5:46179400-46181600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
41	chr5:46179400-46190000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:46180400-46181200	ZNF genes & repeats	Liver	Liver
43	chr5:46183000-46187800	ZNF genes & repeats	Liver	Liver
44	chr5:46184000-46185400	ZNF genes & repeats	Adipose Nuclei	Adipose
45	chr5:46184400-46186600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
46	chr5:46184400-46193800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
47	chr5:46184800-46185000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
48	chr5:46184800-46188200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:46189400-46193000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
50	chr5:46200200-46203400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links