Variant report

Variant	esv3399204
Chromosome Location	chr3:56473150-56474624
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567554843	chr3:56473153-56473154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34515765	chr3:56473198-56473199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548144014	chr3:56473378-56473379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138037569	chr3:56473424-56473425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569779326	chr3:56473449-56473450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4527348	chr3:56473452-56473453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs149477155	chr3:56473544-56473545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577613976	chr3:56473602-56473603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533937594	chr3:56473616-56473617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189779796	chr3:56473617-56473618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574294285	chr3:56473642-56473643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368831852	chr3:56473676-56473677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544968412	chr3:56473692-56473693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372196192	chr3:56473696-56473697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563073773	chr3:56473703-56473704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551105866	chr3:56473733-56473734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576592756	chr3:56473739-56473740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545114127	chr3:56473742-56473743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182153950	chr3:56473745-56473746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570878389	chr3:56473777-56473778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76509987	chr3:56473785-56473786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376685275	chr3:56473796-56473797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560996901	chr3:56473826-56473827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186484972	chr3:56473940-56473941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549842303	chr3:56474019-56474020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569824669	chr3:56474118-56474119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552193491	chr3:56474159-56474160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9871408	chr3:56474289-56474290	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs368862760	chr3:56474294-56474295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375807416	chr3:56474298-56474299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551416171	chr3:56474337-56474338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371674874	chr3:56474345-56474346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112583683	chr3:56474367-56474368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554156061	chr3:56474406-56474407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530460655	chr3:56474410-56474411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567578068	chr3:56474437-56474438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183615125	chr3:56474449-56474450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556622704	chr3:56474458-56474459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369828562	chr3:56474498-56474499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576574990	chr3:56474508-56474509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs55946487	chr3:56474521-56474522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs142686138	chr3:56474532-56474533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572186268	chr3:56474533-56474534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188660284	chr3:56474552-56474553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560924532	chr3:56474556-56474557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529697522	chr3:56474569-56474570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs397877367	chr3:56474576-56474577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369796752	chr3:56474585-56474586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	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
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Renal cell carcinoma	18765545	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56456400-56479600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr3:56457600-56473400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr3:56458000-56474800	Weak transcription	Fetal Heart	heart
4	chr3:56469000-56479400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:56469000-56481000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:56469000-56492600	Weak transcription	H9 Cell Line	embryonic stem cell

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