Variant report

Variant	esv3384966
Chromosome Location	chr4:62320657-62324555
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 161 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555120359	chr4:62320680-62320681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538294328	chr4:62320694-62320695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576569873	chr4:62320789-62320790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150644861	chr4:62320800-62320801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575157694	chr4:62320807-62320808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540659422	chr4:62320828-62320829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184540572	chr4:62320845-62320846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577512725	chr4:62320862-62320863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546366917	chr4:62320866-62320867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376896020	chr4:62320886-62320887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541352105	chr4:62320900-62320901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116010351	chr4:62320959-62320960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76698710	chr4:62321040-62321041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565175233	chr4:62321071-62321072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577106382	chr4:62321112-62321113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139851453	chr4:62321142-62321143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563079441	chr4:62321144-62321145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544356205	chr4:62321177-62321178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116165515	chr4:62321231-62321232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552395659	chr4:62321276-62321277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370486080	chr4:62321281-62321282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529769885	chr4:62321294-62321295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149826205	chr4:62321298-62321299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189245365	chr4:62321302-62321303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181555199	chr4:62321303-62321304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144818205	chr4:62321556-62321557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536657874	chr4:62321558-62321559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371440511	chr4:62321571-62321572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548585149	chr4:62321586-62321587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570188805	chr4:62321587-62321588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547895550	chr4:62321595-62321596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559145452	chr4:62321607-62321608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577375293	chr4:62321739-62321740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535173697	chr4:62321781-62321782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187596247	chr4:62321807-62321808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140181502	chr4:62321815-62321816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541453672	chr4:62321861-62321862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190285472	chr4:62321899-62321900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575339667	chr4:62321907-62321908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145714515	chr4:62321938-62321939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564164895	chr4:62322006-62322007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528299448	chr4:62322035-62322036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546736942	chr4:62322065-62322066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561994623	chr4:62322069-62322070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147766403	chr4:62322078-62322079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548646559	chr4:62322081-62322082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570055596	chr4:62322083-62322084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28532390	chr4:62322084-62322085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71639599	chr4:62322086-62322087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28483640	chr4:62322087-62322088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	20369283	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:62294000-62328000	Weak transcription	Fetal Stomach	stomach
2	chr4:62314000-62327400	Weak transcription	Brain Substantia Nigra	brain
3	chr4:62320800-62321200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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