Variant report

Variant	esv3523643
Chromosome Location	chr3:82202312-82205010
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538260908	chr3:82203464-82203465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558256404	chr3:82203494-82203495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571773872	chr3:82203500-82203501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541636390	chr3:82203507-82203508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376432232	chr3:82203549-82203550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189679801	chr3:82203567-82203568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553924886	chr3:82203618-82203619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573801199	chr3:82203694-82203695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536526371	chr3:82203709-82203710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556199069	chr3:82203712-82203713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575604971	chr3:82203714-82203715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544606459	chr3:82203720-82203721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564595913	chr3:82203721-82203722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552904487	chr3:82203723-82203724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564738641	chr3:82203725-82203726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571796745	chr3:82203751-82203752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540813390	chr3:82203776-82203777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560712486	chr3:82203781-82203782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529494745	chr3:82203827-82203828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35200041	chr3:82203860-82203861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549621649	chr3:82203954-82203955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376485456	chr3:82204004-82204005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9831628	chr3:82204006-82204007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192709384	chr3:82204013-82204014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150101588	chr3:82204097-82204098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373663129	chr3:82204100-82204101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551810566	chr3:82204153-82204154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550472855	chr3:82204192-82204193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138836011	chr3:82204197-82204198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534299261	chr3:82204238-82204239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112982481	chr3:82204246-82204247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547604308	chr3:82204247-82204248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77855249	chr3:82204271-82204272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78445250	chr3:82204309-82204310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185063401	chr3:82204321-82204322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112117718	chr3:82204373-82204374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141324088	chr3:82204454-82204455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575939467	chr3:82204477-82204478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538585490	chr3:82204508-82204509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558125721	chr3:82204524-82204525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114939881	chr3:82204542-82204543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541102903	chr3:82204575-82204576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560837825	chr3:82204590-82204591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1919559	chr3:82204602-82204603	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs529297943	chr3:82204614-82204615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147022758	chr3:82204632-82204633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563138087	chr3:82204633-82204634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373115558	chr3:82204668-82204669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575964080	chr3:82204757-82204758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532033881	chr3:82204769-82204770	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:82203400-82204200	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr3:82203400-82204800	Enhancers	HepG2	liver
3	chr3:82204200-82205000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:82205000-82209600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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