Variant report

Variant	esv3470824
Chromosome Location	chr5:178106693-178111968
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:

Extended variants
information (count: 210 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:210 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10054243	chr5:178106730-178106731	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144518789	chr5:178106733-178106734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113222973	chr5:178106782-178106783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115240347	chr5:178106788-178106789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531850013	chr5:178106790-178106791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112191538	chr5:178106821-178106822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184922842	chr5:178106846-178106847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148400337	chr5:178106857-178106858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188997734	chr5:178106861-178106862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12515881	chr5:178106896-178106897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552196883	chr5:178106898-178106899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111979923	chr5:178106899-178106900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375712249	chr5:178106924-178106925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569907939	chr5:178106934-178106935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56400970	chr5:178107011-178107012	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs76931826	chr5:178107029-178107030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs55856494	chr5:178107041-178107042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555422006	chr5:178107062-178107063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184584057	chr5:178107075-178107076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs56148903	chr5:178107079-178107080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189465766	chr5:178107092-178107093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552974967	chr5:178107150-178107151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144165985	chr5:178107206-178107207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs55931119	chr5:178107230-178107231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146424410	chr5:178107236-178107237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545281974	chr5:178107247-178107248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181543852	chr5:178107254-178107255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373125783	chr5:178107255-178107256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575506168	chr5:178107265-178107266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186933421	chr5:178107278-178107279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs55940108	chr5:178107309-178107310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368226329	chr5:178107316-178107317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559283744	chr5:178107332-178107333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533487948	chr5:178107360-178107361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181099804	chr5:178107365-178107366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569946683	chr5:178107367-178107368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537638907	chr5:178107399-178107400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370614991	chr5:178107420-178107421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186649760	chr5:178107437-178107438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567374787	chr5:178107438-178107439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190641642	chr5:178107462-178107463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553011868	chr5:178107463-178107464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111326803	chr5:178107469-178107470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577701502	chr5:178107507-178107508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79099303	chr5:178107512-178107513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557271452	chr5:178107560-178107561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117032703	chr5:178107577-178107578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542830149	chr5:178107601-178107602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs180989771	chr5:178107676-178107677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141085327	chr5:178107708-178107709	Weak transcription	n/a	n/a	Overlapped CNVs	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178105400-178109400	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr5:178105400-178109800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr5:178108600-178108800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:178109400-178110800	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr5:178109800-178110800	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr5:178110200-178113200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr5:178110400-178111800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:178110800-178111200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:178110800-178111600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr5:178110800-178111800	Enhancers	K562	blood
11	chr5:178110800-178112000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr5:178111600-178113400	Enhancers	Monocytes-CD14+_RO01746	blood

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