Variant report

Variant	nsv1016060
Chromosome Location	chr5:119393169-119452934
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:119398548..119400773-chr5:119411952..119413721,2	K562	blood:
2	chr5:119398548..119400773-chr5:119411952..119413721,2	K562	blood:
3	chr5:119390926..119393461-chr5:119405366..119407503,2	K562	blood:
4	chr5:119390926..119393461-chr5:119405366..119407503,2	K562	blood:
5	chr5:119425445..119427707-chr5:119431108..119433766,2	MCF-7	breast:
6	chr5:119425445..119427707-chr5:119431108..119433766,2	MCF-7	breast:

Extended variants
information (count: 1492 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1492 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549614209	chr5:119393191-119393192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs58154984	chr5:119393250-119393251	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs187073458	chr5:119393255-119393256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373245972	chr5:119393266-119393267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558099394	chr5:119393286-119393287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144927531	chr5:119393292-119393293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544577086	chr5:119393298-119393299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149070666	chr5:119393299-119393300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117455632	chr5:119393301-119393302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79709285	chr5:119393374-119393375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542842946	chr5:119393420-119393421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556804152	chr5:119393446-119393447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75804677	chr5:119393459-119393460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547291684	chr5:119393470-119393471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142624233	chr5:119393472-119393473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565246186	chr5:119393480-119393481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527671339	chr5:119393505-119393506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1191734	chr5:119393520-119393521	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs561023523	chr5:119393563-119393564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530047029	chr5:119393570-119393571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549528162	chr5:119393595-119393596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192498475	chr5:119393597-119393598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184291070	chr5:119393599-119393600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527715036	chr5:119393608-119393609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551837717	chr5:119393617-119393618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79907559	chr5:119393618-119393619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190406797	chr5:119393631-119393632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146894943	chr5:119393678-119393679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs193227487	chr5:119393683-119393684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542925276	chr5:119393684-119393685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560988369	chr5:119393703-119393704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376210767	chr5:119393733-119393734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76875437	chr5:119393743-119393744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576727118	chr5:119393761-119393762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138521381	chr5:119393762-119393763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539271182	chr5:119393768-119393769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368292580	chr5:119393773-119393774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184394860	chr5:119393774-119393775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139372683	chr5:119393777-119393778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1191733	chr5:119393784-119393785	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs116587612	chr5:119393788-119393789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12187483	chr5:119393845-119393846	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs543325767	chr5:119393885-119393886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77764014	chr5:119393887-119393888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115469720	chr5:119393896-119393897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141389703	chr5:119393907-119393908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11952548	chr5:119393916-119393917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150404986	chr5:119393946-119393947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115092588	chr5:119393977-119393978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547827428	chr5:119393981-119393982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	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
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119392600-119398000	Weak transcription	Fetal Heart	heart
2	chr5:119393200-119394400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:119393400-119394200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr5:119393600-119394000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:119397600-119399000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:119397800-119399400	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr5:119398000-119398200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:119398000-119399600	Enhancers	Fetal Heart	heart
9	chr5:119398200-119398400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:119398400-119398600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:119398400-119399000	Enhancers	HMEC	breast
12	chr5:119398600-119398800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:119398800-119399000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:119407600-119408000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:119407800-119408000	Enhancers	Aorta	Aorta
16	chr5:119407800-119408200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:119408000-119410800	Weak transcription	Aorta	Aorta
18	chr5:119408200-119410200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:119409400-119410200	Enhancers	Dnd41	blood
20	chr5:119410200-119411000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:119410800-119411000	Enhancers	Aorta	Aorta
22	chr5:119419800-119420800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:119420000-119420400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:119420000-119420400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr5:119420000-119420600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr5:119420000-119420800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:119420000-119420800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr5:119420200-119420600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr5:119420800-119424200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:119422000-119422400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:119423000-119425200	Enhancers	Dnd41	blood
32	chr5:119423200-119424000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:119423200-119428800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:119423600-119424800	Enhancers	Primary T cells from cord blood	blood
35	chr5:119423800-119425000	Enhancers	Primary hematopoietic stem cells	blood
36	chr5:119423800-119425000	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr5:119423800-119425200	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr5:119424000-119424800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr5:119424000-119426800	Enhancers	Fetal Heart	heart
40	chr5:119424200-119424400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr5:119424200-119424600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:119424200-119424600	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr5:119424200-119424800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:119424400-119428600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr5:119424600-119428600	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr5:119424800-119428600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:119425000-119428600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr5:119425000-119428800	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr5:119425200-119428800	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr5:119425200-119432000	Weak transcription	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links