Variant report

Variant	esv17159
Chromosome Location	chr5:101093096-101108930
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	chr5:101078843..101080982-chr5:101098462..101100344,2	MCF-7	breast:

Extended variants
information (count: 102 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544761017	chr5:101093802-101093803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372602199	chr5:101093833-101093834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115775991	chr5:101093855-101093856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4703181	chr5:101093872-101093873	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs59449697	chr5:101093873-101093874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559464394	chr5:101093926-101093927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139861145	chr5:101093942-101093943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112463303	chr5:101093943-101093944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551896915	chr5:101094024-101094025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563483582	chr5:101094086-101094087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184757908	chr5:101094092-101094093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74635363	chr5:101094110-101094111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567520182	chr5:101094212-101094213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534600394	chr5:101094213-101094214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545491925	chr5:101094221-101094222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79192085	chr5:101094232-101094233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570898481	chr5:101094276-101094277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563730138	chr5:101094288-101094289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538353528	chr5:101094351-101094352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556589278	chr5:101094394-101094395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569934650	chr5:101094397-101094398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375241308	chr5:101094433-101094434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555664556	chr5:101094462-101094463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528219351	chr5:101094480-101094481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2127210	chr5:101094483-101094484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs541358525	chr5:101094484-101094485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553374139	chr5:101094518-101094519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375702915	chr5:101094547-101094548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2127211	chr5:101094551-101094552	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs2127212	chr5:101094605-101094606	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs151292967	chr5:101094640-101094641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2127213	chr5:101094646-101094647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs189573383	chr5:101094657-101094658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371824325	chr5:101094720-101094721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546536308	chr5:101094779-101094780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570910697	chr5:101094789-101094790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531950982	chr5:101094800-101094801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550276440	chr5:101094846-101094847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1600274	chr5:101094900-101094901	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs535943719	chr5:101094901-101094902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140616352	chr5:101094913-101094914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113234623	chr5:101094926-101094927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535337269	chr5:101094975-101094976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180703985	chr5:101095024-101095025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183933021	chr5:101095032-101095033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545388416	chr5:101095052-101095053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189448303	chr5:101095056-101095057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150050893	chr5:101095061-101095062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73174566	chr5:101095062-101095063	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs368032236	chr5:101095072-101095073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101093800-101094000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:101093800-101094200	Enhancers	Pancreas	Pancrea
3	chr5:101094200-101095200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:101095200-101096200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:101095200-101096200	Enhancers	Adipose Nuclei	Adipose

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