Variant report

Variant	esv3370176
Chromosome Location	chr3:76066062-76069860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374954186	chr3:76066090-76066091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527776929	chr3:76066098-76066099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572368453	chr3:76066157-76066158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143953650	chr3:76066165-76066166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561120153	chr3:76066182-76066183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191712842	chr3:76066195-76066196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543892213	chr3:76066286-76066287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565085796	chr3:76066351-76066352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532313312	chr3:76066370-76066371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547398773	chr3:76066389-76066390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183942833	chr3:76066448-76066449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368575262	chr3:76066449-76066450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529027409	chr3:76069041-76069042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544278101	chr3:76069043-76069044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140020485	chr3:76069061-76069062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142337958	chr3:76069117-76069118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540874866	chr3:76069128-76069129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552924181	chr3:76069158-76069159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183087891	chr3:76069160-76069161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556979389	chr3:76069201-76069202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147012655	chr3:76069292-76069293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546716098	chr3:76069314-76069315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73841076	chr3:76069362-76069363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs535565362	chr3:76069394-76069395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557003445	chr3:76069446-76069447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568735267	chr3:76069486-76069487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148048482	chr3:76069488-76069489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377076434	chr3:76069495-76069496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557919940	chr3:76069497-76069498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140842364	chr3:76069504-76069505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375152172	chr3:76069559-76069560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150132100	chr3:76069579-76069580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138581254	chr3:76069581-76069582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371167547	chr3:76069588-76069589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573638008	chr3:76069600-76069601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544339680	chr3:76069638-76069639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562540739	chr3:76069680-76069681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533035703	chr3:76069695-76069696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546452145	chr3:76069742-76069743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564690223	chr3:76069780-76069781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186789773	chr3:76069860-76069861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
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	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
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:76065000-76066400	Enhancers	Fetal Brain Female	brain
2	chr3:76065800-76066200	Enhancers	Fetal Brain Male	brain
3	chr3:76065800-76066400	Enhancers	H9 Cell Line	embryonic stem cell
4	chr3:76066000-76066400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:76066200-76066600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:76066200-76066600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr3:76066400-76066600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:76069000-76072200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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