Variant report

Variant	esv1000851
Chromosome Location	chr5:101313156-101320833
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	chr5:101312840..101313801-chr5:101426237..101427126,3	MCF-7	breast:

Extended variants
information (count: 110 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533130690	chr5:101313204-101313205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs193045722	chr5:101313242-101313243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185738000	chr5:101313245-101313246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555754847	chr5:101313268-101313269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35302349	chr5:101313282-101313283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537100560	chr5:101313320-101313321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540117424	chr5:101313352-101313353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369894137	chr5:101313389-101313390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115486799	chr5:101313392-101313393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372761194	chr5:101313393-101313394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs5870004	chr5:101313419-101313420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534436216	chr5:101313423-101313424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs397757456	chr5:101313426-101313427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs397883191	chr5:101313427-101313428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189001260	chr5:101313430-101313431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572335101	chr5:101313432-101313433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545971676	chr5:101313454-101313455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558068915	chr5:101313459-101313460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145073878	chr5:101313462-101313463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544047661	chr5:101313466-101313467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561944686	chr5:101313513-101313514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112782619	chr5:101313574-101313575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577534441	chr5:101313583-101313584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541557496	chr5:101313591-101313592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79048594	chr5:101313616-101313617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192264890	chr5:101313634-101313635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544938241	chr5:101313636-101313637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs7733736	chr5:101313671-101313672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144569426	chr5:101313709-101313710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563429930	chr5:101313727-101313728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530726546	chr5:101313749-101313750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75718841	chr5:101313791-101313792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148275324	chr5:101313824-101313825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543153349	chr5:101313840-101313841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546324820	chr5:101313859-101313860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571000325	chr5:101313882-101313883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116648489	chr5:101313901-101313902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371236957	chr5:101313919-101313920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375927630	chr5:101313950-101313951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79705579	chr5:101315432-101315433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10070595	chr5:101315485-101315486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116733154	chr5:101315507-101315508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs67315188	chr5:101315528-101315529	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs549560325	chr5:101315548-101315549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6875743	chr5:101315550-101315551	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs6871312	chr5:101315577-101315578	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs190988747	chr5:101315601-101315602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs115356384	chr5:101315611-101315612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370478334	chr5:101315620-101315621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6889856	chr5:101315632-101315633	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:85)

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
Bipolar disorder	19114987	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101313000-101313600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr5:101313200-101313600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr5:101313200-101313600	Enhancers	Brain Germinal Matrix	brain
4	chr5:101313200-101314000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:101315400-101316000	Enhancers	Stomach Mucosa	stomach
6	chr5:101316000-101317000	Weak transcription	Stomach Mucosa	stomach
7	chr5:101317000-101317200	Enhancers	Stomach Mucosa	stomach

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