Variant report

Variant	esv1793456
Chromosome Location	chr5:99644079-99660333
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	chr5:98656230..98656989-chr5:99647221..99648200,3	MCF-7	breast:
2	chr5:98440068..98440810-chr5:99647288..99647935,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545930751	chr5:99649004-99649005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564026091	chr5:99649014-99649015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190509968	chr5:99649041-99649042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1824776	chr5:99649062-99649063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550014366	chr5:99649098-99649099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546050762	chr5:99649108-99649109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577395639	chr5:99649115-99649116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568231167	chr5:99649126-99649127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529241403	chr5:99649127-99649128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547707122	chr5:99649131-99649132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546475394	chr5:99649132-99649133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566906540	chr5:99649134-99649135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533947365	chr5:99649137-99649138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs13178014	chr5:99649165-99649166	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs570872469	chr5:99649241-99649242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538311125	chr5:99649244-99649245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs794982	chr5:99649286-99649287	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs574674888	chr5:99649294-99649295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542156994	chr5:99649317-99649318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150207125	chr5:99649354-99649355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181122290	chr5:99649455-99649456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572649879	chr5:99649468-99649469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35381573	chr5:99649495-99649496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545488008	chr5:99649610-99649611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371814542	chr5:99649619-99649620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531327389	chr5:99649653-99649654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543530044	chr5:99649687-99649688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546615276	chr5:99649695-99649696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138853393	chr5:99649727-99649728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112984220	chr5:99649731-99649732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565848532	chr5:99649751-99649752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533222411	chr5:99649754-99649755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186481577	chr5:99649774-99649775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561841732	chr5:99649784-99649785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540579429	chr5:99649793-99649794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs35600269	chr5:99649820-99649821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs149508084	chr5:99649830-99649831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147201886	chr5:99649918-99649919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549851753	chr5:99649962-99649963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529384386	chr5:99649982-99649983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191361517	chr5:99649996-99649997	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99649000-99649800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr5:99649200-99649800	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr5:99649200-99650000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr5:99649200-99650000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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