Variant report

Variant	esv3429629
Chromosome Location	chr4:60383807-60386055
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149466609	chr4:60383831-60383832	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs80209389	chr4:60383846-60383847	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs571175860	chr4:60383856-60383857	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs538570067	chr4:60383878-60383879	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs553812097	chr4:60383919-60383920	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs565658389	chr4:60384008-60384009	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377728896	chr4:60384015-60384016	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535910038	chr4:60384016-60384017	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548588199	chr4:60384020-60384021	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79541346	chr4:60384049-60384050	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183559095	chr4:60384052-60384053	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35486073	chr4:60384053-60384054	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543993830	chr4:60384079-60384080	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs62307303	chr4:60384080-60384081	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs577583929	chr4:60384101-60384102	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4441788	chr4:60384114-60384115	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs566192498	chr4:60384133-60384134	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530092670	chr4:60384143-60384144	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541901891	chr4:60384179-60384180	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs62307304	chr4:60384186-60384187	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs530919263	chr4:60384193-60384194	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374092517	chr4:60384194-60384195	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76957406	chr4:60384195-60384196	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368440616	chr4:60384201-60384202	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs114954696	chr4:60384221-60384222	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs532210782	chr4:60384228-60384229	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs34265507	chr4:60384241-60384242	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs35855405	chr4:60384244-60384245	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs373414860	chr4:60384281-60384282	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs186817409	chr4:60384292-60384293	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs576678671	chr4:60384297-60384298	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs192129374	chr4:60384302-60384303	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs537163367	chr4:60384307-60384308	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs555814083	chr4:60384308-60384309	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs183903985	chr4:60384322-60384323	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs200685534	chr4:60384330-60384331	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs534946919	chr4:60384344-60384345	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs553623631	chr4:60384380-60384381	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs147303625	chr4:60384396-60384397	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs542164330	chr4:60384420-60384421	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs563356386	chr4:60384473-60384474	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs575265390	chr4:60384479-60384480	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs545879362	chr4:60384483-60384484	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs368669107	chr4:60384485-60384486	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs28470306	chr4:60384488-60384489	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs532332951	chr4:60384489-60384490	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs374784857	chr4:60384499-60384500	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs114878109	chr4:60384523-60384524	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs532941017	chr4:60384546-60384547	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs559559371	chr4:60384565-60384566	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Renal cell carcinoma	18194544	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

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:60383800-60384000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
2	chr4:60383800-60384200	Enhancers	Pancreas	Pancrea
3	chr4:60383800-60384600	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr4:60383800-60384600	Active TSS	Gastric	stomach
5	chr4:60384000-60384600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr4:60384000-60384600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr4:60384000-60384600	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr4:60384200-60384400	Flanking Active TSS	Pancreas	Pancrea
9	chr4:60384400-60384600	Active TSS	Pancreas	Pancrea

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