Variant report

Variant	esv3364451
Chromosome Location	chr3:23016798-23018796
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	chr3:23013201..23015081-chr3:23016891..23018574,2	MCF-7	breast:

Extended variants
information (count: 120 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528044757	chr3:23016816-23016817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546287058	chr3:23016893-23016894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147257681	chr3:23016903-23016904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1683061	chr3:23016922-23016923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs115951728	chr3:23016941-23016942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568747318	chr3:23016980-23016981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184884287	chr3:23016986-23016987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558675806	chr3:23017008-23017009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2605129	chr3:23017012-23017013	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs189311022	chr3:23017028-23017029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2605128	chr3:23017034-23017035	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs144754292	chr3:23017044-23017045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111384461	chr3:23017062-23017063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557577099	chr3:23017064-23017065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575953263	chr3:23017075-23017076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113395336	chr3:23017097-23017098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564129579	chr3:23017098-23017099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs180917618	chr3:23017101-23017102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540197240	chr3:23017117-23017118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568514212	chr3:23017121-23017122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561558774	chr3:23017122-23017123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529173614	chr3:23017133-23017134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184200883	chr3:23017135-23017136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189907164	chr3:23017163-23017164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114054009	chr3:23017168-23017169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534516913	chr3:23017175-23017176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570580348	chr3:23017182-23017183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142900420	chr3:23017199-23017200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560447528	chr3:23017313-23017314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201729962	chr3:23017325-23017326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141120628	chr3:23017326-23017327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2605126	chr3:23017348-23017349	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs2605125	chr3:23017349-23017350	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs201883730	chr3:23017383-23017384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576017981	chr3:23017430-23017431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549240631	chr3:23017470-23017471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115323631	chr3:23017488-23017489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7430596	chr3:23017504-23017505	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs145161147	chr3:23017505-23017506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs202244195	chr3:23017507-23017508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181200081	chr3:23017518-23017519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147610609	chr3:23017526-23017527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200782044	chr3:23017529-23017530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200837240	chr3:23017530-23017531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs202175790	chr3:23017532-23017533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532200446	chr3:23017533-23017534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200561683	chr3:23017534-23017535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573602082	chr3:23017536-23017537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62252342	chr3:23017541-23017542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs202110191	chr3:23017544-23017545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23013800-23019400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr3:23016600-23021000	Weak transcription	Ovary	ovary
3	chr3:23018600-23018800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:23018600-23018800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:23018600-23019000	Enhancers	Lung	lung
6	chr3:23018600-23019600	Enhancers	Placenta Amnion	Placenta Amnion

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