Variant report

Variant	esv2757126
Chromosome Location	chr5:101180049-101206032
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	chr5:101006866..101009211-chr5:101203107..101204677,2	MCF-7	breast:

Extended variants
information (count: 94 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574390800	chr5:101182202-101182203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147802935	chr5:101182251-101182252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557469271	chr5:101182294-101182295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575781183	chr5:101182322-101182323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542859906	chr5:101182478-101182479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561089305	chr5:101182530-101182531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6596174	chr5:101182591-101182592	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs528130588	chr5:101195809-101195810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs72772436	chr5:101195858-101195859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs565917563	chr5:101195882-101195883	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs539771134	chr5:101195904-101195905	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs141388375	chr5:101195908-101195909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs62383952	chr5:101195921-101195922	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs115268066	chr5:101195922-101195923	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs555429107	chr5:101195933-101195934	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs192031578	chr5:101195953-101195954	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs574230310	chr5:101196013-101196014	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535112402	chr5:101196032-101196033	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76196720	chr5:101196087-101196088	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs151235358	chr5:101196088-101196089	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544848964	chr5:101196095-101196096	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140444008	chr5:101196098-101196099	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371676023	chr5:101196099-101196100	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542613691	chr5:101196104-101196105	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150439693	chr5:101196107-101196108	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528214973	chr5:101196112-101196113	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182984957	chr5:101196159-101196160	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138204423	chr5:101196183-101196184	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533361435	chr5:101196196-101196197	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375108599	chr5:101196207-101196208	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs145470376	chr5:101196229-101196230	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs6869358	chr5:101196243-101196244	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs112525293	chr5:101196244-101196245	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs141475861	chr5:101196245-101196246	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs148392437	chr5:101196246-101196247	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs70987880	chr5:101196247-101196248	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs551641776	chr5:101196359-101196360	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs570331217	chr5:101196402-101196403	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs531108323	chr5:101196431-101196432	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs549398887	chr5:101196448-101196449	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs187009135	chr5:101196465-101196466	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs535151644	chr5:101196476-101196477	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs553528188	chr5:101196496-101196497	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs368411768	chr5:101196542-101196543	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs112071482	chr5:101196559-101196560	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs571736841	chr5:101196560-101196561	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs2084930	chr5:101196588-101196589	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs376826393	chr5:101196591-101196592	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs536121843	chr5:101204425-101204426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541567789	chr5:101204469-101204470	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101182200-101182600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:101195800-101196400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:101196000-101196200	Enhancers	Gastric	stomach
4	chr5:101196200-101196600	Active TSS	Gastric	stomach
5	chr5:101204400-101205200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:101204800-101205000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:101205000-101205200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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