Variant report

Variant	esv3461680
Chromosome Location	chr3:28734990-28744180
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	chr3:28645073..28647922-chr3:28738651..28741431,2	MCF-7	breast:

Extended variants
information (count: 308 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115570528	chr3:28735049-28735050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369622424	chr3:28735130-28735131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116767295	chr3:28735168-28735169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550677110	chr3:28735305-28735306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149800065	chr3:28735356-28735357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146808691	chr3:28735388-28735389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9814937	chr3:28735410-28735411	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs549362645	chr3:28735412-28735413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566781061	chr3:28735457-28735458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535360007	chr3:28735469-28735470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554976765	chr3:28735558-28735559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574726356	chr3:28735559-28735560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566407902	chr3:28735576-28735577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543936939	chr3:28735607-28735608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557035749	chr3:28735671-28735672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373195040	chr3:28735745-28735746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189349252	chr3:28735746-28735747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559484245	chr3:28735760-28735761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528801596	chr3:28735768-28735769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181928888	chr3:28735778-28735779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561755018	chr3:28735780-28735781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535353148	chr3:28735833-28735834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186566400	chr3:28735842-28735843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145631399	chr3:28735851-28735852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570564934	chr3:28735892-28735893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533016802	chr3:28735912-28735913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369457308	chr3:28735995-28735996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566527962	chr3:28736065-28736066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535775474	chr3:28736072-28736073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11920598	chr3:28736092-28736093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs74916609	chr3:28736107-28736108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537052919	chr3:28736121-28736122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79562165	chr3:28736149-28736150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576942012	chr3:28736216-28736217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4308234	chr3:28736224-28736225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs190776158	chr3:28736234-28736235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573339365	chr3:28736245-28736246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542547558	chr3:28736257-28736258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182962607	chr3:28736264-28736265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146644170	chr3:28736368-28736369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79868900	chr3:28736374-28736375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79217593	chr3:28736383-28736384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186296936	chr3:28736390-28736391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546703606	chr3:28736412-28736413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371209309	chr3:28736424-28736425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536602968	chr3:28736453-28736454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529075515	chr3:28736454-28736455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570592395	chr3:28736476-28736477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549117205	chr3:28736489-28736490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574986766	chr3:28736501-28736502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16618734	CNVD
Cancer	20164919	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28727200-28739600	Weak transcription	HSMMtube	muscle
2	chr3:28734400-28737400	Weak transcription	Gastric	stomach
3	chr3:28736200-28737600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:28737400-28737600	Enhancers	Gastric	stomach
5	chr3:28737600-28738200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:28737600-28740400	Weak transcription	Gastric	stomach
7	chr3:28738200-28738400	Enhancers	Pancreas	Pancrea
8	chr3:28738600-28740000	Weak transcription	Pancreas	Pancrea
9	chr3:28739600-28742400	Enhancers	HSMMtube	muscle
10	chr3:28739800-28741000	Enhancers	Fetal Heart	heart
11	chr3:28739800-28741200	Enhancers	Fetal Muscle Leg	muscle
12	chr3:28740000-28743000	Enhancers	Pancreas	Pancrea
13	chr3:28740400-28740600	Enhancers	Fetal Intestine Large	intestine
14	chr3:28740400-28740600	Enhancers	Right Atrium	heart
15	chr3:28740400-28741000	Enhancers	Stomach Mucosa	stomach
16	chr3:28740400-28741200	Enhancers	Gastric	stomach
17	chr3:28740600-28743400	Weak transcription	Right Atrium	heart
18	chr3:28740800-28741600	Weak transcription	Fetal Intestine Large	intestine
19	chr3:28741600-28742400	Enhancers	Fetal Intestine Large	intestine
20	chr3:28742200-28742800	Enhancers	Aorta	Aorta
21	chr3:28743400-28743600	Enhancers	Right Atrium	heart

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