Variant report

Variant	esv3334214
Chromosome Location	chr3:83481887-83484260
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191170389	chr3:83481951-83481952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76607508	chr3:83481971-83481972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs398082244	chr3:83481977-83481978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577596956	chr3:83482043-83482044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183437979	chr3:83482057-83482058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565734968	chr3:83482134-83482135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540162916	chr3:83482153-83482154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528100375	chr3:83482199-83482200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547922657	chr3:83482215-83482216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568025892	chr3:83482263-83482264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147222624	chr3:83482329-83482330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556404598	chr3:83482383-83482384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575991157	chr3:83482390-83482391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369545637	chr3:83482427-83482428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187476730	chr3:83482459-83482460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371622397	chr3:83482464-83482465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192278275	chr3:83482473-83482474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569934571	chr3:83482497-83482498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538797464	chr3:83482498-83482499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558632982	chr3:83482505-83482506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576396896	chr3:83482534-83482535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138797376	chr3:83482575-83482576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541513369	chr3:83482598-83482599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76075295	chr3:83482615-83482616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372930365	chr3:83482633-83482634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574763436	chr3:83482677-83482678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369471023	chr3:83482766-83482767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374493235	chr3:83482767-83482768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6798686	chr3:83482774-83482775	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs532350978	chr3:83482802-83482803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183081386	chr3:83482805-83482806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559495654	chr3:83482815-83482816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528200450	chr3:83482819-83482820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548251011	chr3:83482821-83482822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567979818	chr3:83482877-83482878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111641775	chr3:83482888-83482889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34934228	chr3:83482909-83482910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11918079	chr3:83482911-83482912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577684812	chr3:83482947-83482948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545355934	chr3:83482987-83482988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554097419	chr3:83483022-83483023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550061906	chr3:83483034-83483035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142807600	chr3:83483117-83483118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147261547	chr3:83483159-83483160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35745920	chr3:83483222-83483223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552402604	chr3:83483231-83483232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572522212	chr3:83483238-83483239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534843600	chr3:83483257-83483258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540795501	chr3:83483291-83483292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555015145	chr3:83483337-83483338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:83480000-83484600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:83483200-83485000	Enhancers	Dnd41	blood
3	chr3:83483600-83484800	Enhancers	Fetal Brain Female	brain
4	chr3:83483600-83485000	Enhancers	Fetal Brain Male	brain
5	chr3:83483800-83484000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:83483800-83485200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:83484000-83484200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:83484000-83484200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:83484000-83484200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:83484000-83484600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:83484000-83484800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:83484200-83484400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:83484200-83484600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:83484200-83484600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:83484200-83484600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr3:83484200-83484800	Active TSS	A549	lung
17	chr3:83484200-83485200	Enhancers	Cortex derived primary cultured neurospheres	brain

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