Variant report

Variant	esv3434713
Chromosome Location	chr3:81906712-81908810
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542237147	chr3:81906808-81906809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140573171	chr3:81906814-81906815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571348838	chr3:81906820-81906821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145838418	chr3:81906840-81906841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186659124	chr3:81906997-81906998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114340960	chr3:81907064-81907065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527475085	chr3:81907067-81907068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547150629	chr3:81907087-81907088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6769382	chr3:81907184-81907185	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs535919176	chr3:81907194-81907195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555496698	chr3:81907237-81907238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559521830	chr3:81907262-81907263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569194995	chr3:81907290-81907291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191117200	chr3:81907307-81907308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56915933	chr3:81907351-81907352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534005932	chr3:81907356-81907357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146605716	chr3:81907369-81907370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577854843	chr3:81907408-81907409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555467083	chr3:81907478-81907479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200462710	chr3:81907498-81907499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185737840	chr3:81907500-81907501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs151074896	chr3:81907507-81907508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200876312	chr3:81907508-81907509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375610591	chr3:81907785-81907786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200244970	chr3:81907808-81907809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201782859	chr3:81907809-81907810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199709352	chr3:81907811-81907812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200783323	chr3:81907812-81907813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553476767	chr3:81907820-81907821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9841087	chr3:81907949-81907950	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs13075250	chr3:81907952-81907953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs190262907	chr3:81907962-81907963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575987461	chr3:81908004-81908005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545364057	chr3:81908012-81908013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78606005	chr3:81908029-81908030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527511684	chr3:81908071-81908072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547636763	chr3:81908114-81908115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112965255	chr3:81908154-81908155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376136236	chr3:81908170-81908171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367561278	chr3:81908176-81908177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71326487	chr3:81908185-81908186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549413245	chr3:81908306-81908307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569201107	chr3:81908314-81908315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573889719	chr3:81908324-81908325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537838107	chr3:81908397-81908398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550866592	chr3:81908451-81908452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs193181912	chr3:81908471-81908472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551689636	chr3:81908490-81908491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544839891	chr3:81908538-81908539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185106215	chr3:81908549-81908550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
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
Acute myeloid leukemia	20729466	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
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
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81906800-81907200	Enhancers	Fetal Heart	heart
2	chr3:81907000-81907400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:81907200-81910000	Weak transcription	Fetal Heart	heart
4	chr3:81908400-81909000	Enhancers	Fetal Lung	lung
5	chr3:81908600-81908800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:81908800-81909800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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