Variant report

Variant	esv3463394
Chromosome Location	chr3:75077877-75086058
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	chr17:59890049..59891797-chr3:75078865..75080866,2	MCF-7	breast:

Extended variants
information (count: 115 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570465175	chr3:75077882-75077883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6761963	chr3:75077895-75077896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs6761965	chr3:75077899-75077900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533416166	chr3:75077902-75077903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs13095415	chr3:75077908-75077909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs13075837	chr3:75077909-75077910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13075972	chr3:75077916-75077917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13096878	chr3:75077918-75077919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552065496	chr3:75077931-75077932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566695294	chr3:75077956-75077957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13076023	chr3:75077999-75078000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13080686	chr3:75078000-75078001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534151378	chr3:75078002-75078003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548652738	chr3:75078023-75078024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567069931	chr3:75078049-75078050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561820548	chr3:75078087-75078088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs397990174	chr3:75078107-75078108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200456442	chr3:75078123-75078124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112793445	chr3:75078179-75078180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368665033	chr3:75078191-75078192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146453041	chr3:75078196-75078197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140910332	chr3:75078198-75078199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538530300	chr3:75078216-75078217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570279670	chr3:75078263-75078264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554064159	chr3:75078361-75078362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142040929	chr3:75078421-75078422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542886427	chr3:75078514-75078515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79337344	chr3:75078519-75078520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555722990	chr3:75078556-75078557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs151147862	chr3:75078574-75078575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188692101	chr3:75078633-75078634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544701198	chr3:75078731-75078732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562703524	chr3:75078795-75078796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140590397	chr3:75078850-75078851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370027429	chr3:75078932-75078933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545354394	chr3:75078933-75078934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150478316	chr3:75078935-75078936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4544657	chr3:75078957-75078958	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs181204987	chr3:75078967-75078968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4364206	chr3:75078969-75078970	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs531275540	chr3:75079011-75079012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549871229	chr3:75079035-75079036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571136522	chr3:75079054-75079055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185482487	chr3:75079083-75079084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554101251	chr3:75079095-75079096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189953208	chr3:75079124-75079125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138583947	chr3:75079125-75079126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527400200	chr3:75079156-75079157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554762152	chr3:75079191-75079192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577634662	chr3:75079194-75079195	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Autism	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75077200-75078200	Weak transcription	Fetal Intestine Large	intestine
2	chr3:75078200-75080600	Enhancers	Fetal Intestine Large	intestine
3	chr3:75078400-75081200	Enhancers	Fetal Intestine Small	intestine
4	chr3:75078800-75079800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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