Variant report

Variant	esv2760794
Chromosome Location	chr3:87932310-87953742
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:87949008..87949986-chr3:88051988..88052893,3	MCF-7	breast:
2	chr3:87948990..87949967-chr3:88052412..88052973,2	MCF-7	breast:
3	chr3:87347022..87347886-chr3:87948968..87949826,2	MCF-7	breast:

Extended variants
information (count: 618 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:618 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190461368	chr3:87932335-87932336	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs543908024	chr3:87932336-87932337	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs183623674	chr3:87932376-87932377	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs188072275	chr3:87932382-87932383	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs548076540	chr3:87932404-87932405	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs560074107	chr3:87932419-87932420	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs192729937	chr3:87932430-87932431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs138781189	chr3:87932533-87932534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs372113001	chr3:87932535-87932536	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs570270758	chr3:87932536-87932537	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs536705474	chr3:87932584-87932585	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs28880606	chr3:87932604-87932605	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs566892205	chr3:87932628-87932629	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs534330512	chr3:87932645-87932646	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs184311790	chr3:87932709-87932710	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs577012676	chr3:87932768-87932769	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs186877837	chr3:87932787-87932788	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs529074173	chr3:87936406-87936407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541885967	chr3:87936416-87936417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560196892	chr3:87936423-87936424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527812902	chr3:87936486-87936487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146684962	chr3:87936491-87936492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570862812	chr3:87936541-87936542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531867154	chr3:87936632-87936633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550496521	chr3:87936663-87936664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568638235	chr3:87936668-87936669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536045008	chr3:87936757-87936758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548040729	chr3:87936791-87936792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565779332	chr3:87936792-87936793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9832462	chr3:87936806-87936807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs557429455	chr3:87936836-87936837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575992385	chr3:87936858-87936859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536919087	chr3:87936884-87936885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555257644	chr3:87936923-87936924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555499473	chr3:87936925-87936926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540805556	chr3:87936943-87936944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559169322	chr3:87936946-87936947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572436328	chr3:87936947-87936948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112395110	chr3:87937066-87937067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546285390	chr3:87937082-87937083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534688296	chr3:87937111-87937112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531749861	chr3:87937118-87937119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550234707	chr3:87937136-87937137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145124694	chr3:87937163-87937164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529664091	chr3:87937178-87937179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548001931	chr3:87937196-87937197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566273097	chr3:87937270-87937271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557802130	chr3:87937285-87937286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577697189	chr3:87937290-87937291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551476811	chr3:87937297-87937298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:87932000-87932800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr3:87932200-87932400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr3:87936400-87942600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:87937600-87941400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:87938800-87946800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr3:87941400-87944400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:87942600-87947400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:87944400-87948600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:87944800-87945000	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr3:87945000-87947000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr3:87946800-87947600	Strong transcription	Primary hematopoietic stem cells	blood
12	chr3:87947000-87947200	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr3:87947200-87948000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr3:87947400-87947600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr3:87947600-87947800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:87947600-87949200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr3:87947800-87951800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr3:87948000-87948400	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr3:87948600-87951600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:87949200-87951600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr3:87949600-87950200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr3:87951600-87953800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr3:87951800-87953000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:87953000-87964800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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