Variant report

Variant	nsv599483
Chromosome Location	chr5:115561128-115609552
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:115573428..115574084-chr5:115607901..115608709,2	MCF-7	breast:
2	chr5:115607181..115609929-chr5:115613382..115615949,2	K562	blood:
3	chr5:115473639..115474170-chr5:115607611..115608509,2	MCF-7	breast:
4	chr5:115573428..115574084-chr5:115607901..115608709,2	MCF-7	breast:

Extended variants
information (count: 2533 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2533 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1382342	chr5:115561128-115561129	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs569943009	chr5:115561131-115561132	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs113753287	chr5:115561135-115561136	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs558847109	chr5:115561153-115561154	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs115536646	chr5:115561189-115561190	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs533603152	chr5:115561191-115561192	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs558101211	chr5:115561236-115561237	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs553848226	chr5:115561249-115561250	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs191688506	chr5:115561276-115561277	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs542974072	chr5:115561305-115561306	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs201935840	chr5:115561380-115561381	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs576373253	chr5:115561417-115561418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139872869	chr5:115561431-115561432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145325355	chr5:115561449-115561450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572502124	chr5:115561464-115561465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113279423	chr5:115561465-115561466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs13177651	chr5:115561467-115561468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527833375	chr5:115561485-115561486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76761933	chr5:115561489-115561490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547563090	chr5:115561506-115561507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78275726	chr5:115561507-115561508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182825952	chr5:115561508-115561509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187863759	chr5:115561516-115561517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201538621	chr5:115561517-115561518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570026687	chr5:115561550-115561551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147670050	chr5:115561589-115561590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192477489	chr5:115561621-115561622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566137230	chr5:115561626-115561627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561283168	chr5:115561642-115561643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201139357	chr5:115561645-115561646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533923636	chr5:115561659-115561660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553883022	chr5:115561664-115561665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17139192	chr5:115561710-115561711	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs536272269	chr5:115561739-115561740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533426947	chr5:115561749-115561750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556155503	chr5:115561753-115561754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372560507	chr5:115561769-115561770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576289792	chr5:115561899-115561900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544972927	chr5:115561939-115561940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565129535	chr5:115561983-115561984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572131696	chr5:115562029-115562030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182335875	chr5:115562059-115562060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs17139193	chr5:115562073-115562074	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs4591785	chr5:115562098-115562099	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs34529275	chr5:115562113-115562114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79623508	chr5:115562128-115562129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs60589896	chr5:115562129-115562130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200308024	chr5:115562130-115562131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549769954	chr5:115562135-115562136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1422498	chr5:115562150-115562151	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115542600-115562800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:115551800-115576400	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr5:115557000-115562800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:115557400-115580800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr5:115557400-115583200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:115559200-115564000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr5:115559200-115578400	Weak transcription	Fetal Lung	lung
8	chr5:115559800-115561400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:115560000-115561800	Weak transcription	Liver	Liver
10	chr5:115560000-115563400	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr5:115560000-115563600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr5:115560400-115563200	Weak transcription	Primary B cells from cord blood	blood
13	chr5:115560400-115570400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr5:115560400-115572600	Weak transcription	Fetal Intestine Small	intestine
15	chr5:115560400-115581000	Weak transcription	Primary T cells from cord blood	blood
16	chr5:115560400-115610600	Weak transcription	Left Ventricle	heart
17	chr5:115560600-115567600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr5:115561000-115561800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr5:115561200-115562400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr5:115561400-115569400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:115561400-115580000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr5:115561800-115586400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr5:115562400-115572000	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr5:115562400-115589000	Weak transcription	Ovary	ovary
25	chr5:115562800-115563400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:115563000-115565200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:115563200-115563400	Strong transcription	Primary B cells from cord blood	blood
28	chr5:115563400-115571000	Weak transcription	Primary B cells from cord blood	blood
29	chr5:115564000-115564600	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr5:115565200-115569200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:115565600-115567000	Enhancers	Fetal Heart	heart
32	chr5:115566600-115567400	Enhancers	HepG2	liver
33	chr5:115568400-115578800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr5:115569200-115569400	Enhancers	Fetal Heart	heart
35	chr5:115569200-115569800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:115569400-115569600	Enhancers	Fetal Kidney	kidney
37	chr5:115569400-115569800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr5:115569600-115577600	Weak transcription	Fetal Kidney	kidney
39	chr5:115569800-115582200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr5:115571000-115573000	Strong transcription	Primary B cells from cord blood	blood
41	chr5:115571400-115572000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:115572000-115580400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:115573000-115578800	Weak transcription	Primary B cells from cord blood	blood
44	chr5:115573400-115575000	Enhancers	Colon Smooth Muscle	Colon
45	chr5:115574000-115580000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr5:115575000-115578200	Weak transcription	Colon Smooth Muscle	Colon
47	chr5:115576200-115576400	Enhancers	Adipose Nuclei	Adipose
48	chr5:115576200-115576600	Enhancers	HUVEC	blood vessel
49	chr5:115577600-115579600	Enhancers	Fetal Kidney	kidney
50	chr5:115577800-115578800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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