Variant report

Variant	nsv1031772
Chromosome Location	chr5:164451602-164512911
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:163439449..163440316-chr5:164456391..164457131,2	MCF-7	breast:
2	chr5:164456268..164457507-chr5:164884675..164886184,4	MCF-7	breast:
3	chr5:164456273..164457115-chr5:164635699..164636841,5	MCF-7	breast:
4	chr5:164456280..164457191-chr5:164635732..164636716,3	MCF-7	breast:
5	chr5:164456344..164456958-chr5:164924436..164925021,2	MCF-7	breast:

Extended variants
information (count: 601 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:601 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199629900	chr5:164452026-164452027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6556790	chr5:164452101-164452102	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs546988592	chr5:164452144-164452145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146621233	chr5:164452193-164452194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185625475	chr5:164452208-164452209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190083414	chr5:164452209-164452210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574938644	chr5:164452242-164452243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183431226	chr5:164452249-164452250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147900593	chr5:164452288-164452289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527358107	chr5:164452318-164452319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141380975	chr5:164452335-164452336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs80329796	chr5:164452393-164452394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111530370	chr5:164452398-164452399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577371621	chr5:164452399-164452400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546241658	chr5:164452412-164452413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138091538	chr5:164452455-164452456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560487673	chr5:164452472-164452473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77478913	chr5:164452502-164452503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572506532	chr5:164452532-164452533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530638044	chr5:164452555-164452556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564590255	chr5:164452571-164452572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542928877	chr5:164452572-164452573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547976192	chr5:164452621-164452622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561645670	chr5:164452627-164452628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531775017	chr5:164452633-164452634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149526806	chr5:164452638-164452639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188499112	chr5:164452651-164452652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570955898	chr5:164452652-164452653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78100477	chr5:164452686-164452687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143040382	chr5:164452690-164452691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544622066	chr5:164452697-164452698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529665306	chr5:164452721-164452722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548151715	chr5:164452743-164452744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532043551	chr5:164452773-164452774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569942436	chr5:164452787-164452788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74527443	chr5:164452792-164452793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116478186	chr5:164452799-164452800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs193113773	chr5:164452803-164452804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138542763	chr5:164452829-164452830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183938008	chr5:164452876-164452877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71589139	chr5:164452887-164452888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs398050927	chr5:164452898-164452899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554336148	chr5:164452912-164452913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572443920	chr5:164452944-164452945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188683094	chr5:164452966-164452967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543608854	chr5:164453035-164453036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115781083	chr5:164453068-164453069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528948442	chr5:164453075-164453076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576674934	chr5:164453085-164453086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543806207	chr5:164453092-164453093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Breast cancer	17603634	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
severe myoclonic epilepsy of infancy	18294202	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	19115005	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:164452000-164452400	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr5:164452400-164457000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr5:164456800-164457000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:164456800-164457600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:164456800-164457800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:164457000-164457800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr5:164457000-164458800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:164457200-164457600	Enhancers	Primary hematopoietic stem cells	blood
9	chr5:164458600-164458800	Bivalent Enhancer	Pancreas	Pancrea
10	chr5:164458800-164459200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:164465600-164466000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:164465600-164466000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr5:164466600-164466800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:164473000-164473600	ZNF genes & repeats	Pancreas	Pancrea
15	chr5:164482800-164483200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:164492400-164493200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:164503600-164504000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr5:164510200-164512600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:164510400-164514200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:164510600-164510800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:164510600-164510800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:164511000-164512000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:164511000-164512000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:164511200-164511800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr5:164511400-164511800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr5:164511400-164511800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr5:164511600-164511800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr5:164511600-164512000	Enhancers	Brain Germinal Matrix	brain
29	chr5:164511800-164513400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr5:164511800-164513600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr5:164512000-164512400	Weak transcription	Brain Germinal Matrix	brain
32	chr5:164512000-164513600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:164512000-164515800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:164512400-164513400	Enhancers	Brain Germinal Matrix	brain
35	chr5:164512600-164513000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links