Variant report

Variant	esv1823571
Chromosome Location	chr5:178103405-178113183
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:178103410..178105385-chr5:178107182..178109270,2	MCF-7	breast:
2	chr5:178103410..178105385-chr5:178107182..178109270,2	MCF-7	breast:

Extended variants
information (count: 403 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:403 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10076182	chr5:178103405-178103406	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184538992	chr5:178103480-178103481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73340780	chr5:178103482-178103483	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs190599596	chr5:178103520-178103521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528745220	chr5:178103527-178103528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547193005	chr5:178103541-178103542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10076269	chr5:178103564-178103565	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs113646203	chr5:178103592-178103593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112907957	chr5:178103599-178103600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549384193	chr5:178103643-178103644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73804431	chr5:178103672-178103673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550693297	chr5:178103697-178103698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560506628	chr5:178103713-178103714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568899948	chr5:178103741-178103742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35608817	chr5:178103754-178103755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181760525	chr5:178103802-178103803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186276775	chr5:178103807-178103808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs56263026	chr5:178103874-178103875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559458097	chr5:178103919-178103920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79328215	chr5:178103935-178103936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75436774	chr5:178103937-178103938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558724700	chr5:178103947-178103948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140918870	chr5:178103949-178103950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545142355	chr5:178103973-178103974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557011395	chr5:178103978-178103979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575269395	chr5:178103979-178103980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543022525	chr5:178103980-178103981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375599503	chr5:178103986-178103987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561097665	chr5:178103987-178103988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528785105	chr5:178104006-178104007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181594624	chr5:178104031-178104032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13361974	chr5:178104036-178104037	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs565528014	chr5:178104055-178104056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185372472	chr5:178104058-178104059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533105286	chr5:178104106-178104107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550729834	chr5:178104122-178104123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191361306	chr5:178104166-178104167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549521951	chr5:178104186-178104187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529789013	chr5:178104210-178104211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548173583	chr5:178104211-178104212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566306419	chr5:178104222-178104223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550776366	chr5:178104240-178104241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534134519	chr5:178104274-178104275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138292537	chr5:178104298-178104299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147510589	chr5:178104396-178104397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs57729556	chr5:178104420-178104421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs397967406	chr5:178104427-178104428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11957860	chr5:178104440-178104441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11957861	chr5:178104441-178104442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs72810681	chr5:178104447-178104448	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

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
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
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
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	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
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
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	21990379	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178102600-178103800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:178102600-178104000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr5:178103000-178103600	Enhancers	HMEC	breast
4	chr5:178103400-178103800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:178103400-178104000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr5:178104000-178104400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:178104000-178104600	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr5:178104200-178105400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr5:178104400-178105400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr5:178104400-178105400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr5:178104600-178105000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr5:178105000-178105400	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr5:178105400-178109400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr5:178105400-178109800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr5:178108600-178108800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:178109400-178110800	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr5:178109800-178110800	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr5:178110200-178113200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr5:178110400-178111800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:178110800-178111200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:178110800-178111600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr5:178110800-178111800	Enhancers	K562	blood
23	chr5:178110800-178112000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr5:178111600-178113400	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr5:178112000-178115400	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr5:178112200-178112800	Enhancers	Placenta	Placenta
27	chr5:178112800-178113400	Flanking Active TSS	Placenta	Placenta

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