Variant report

Variant	esv3365192
Chromosome Location	chr4:45033645-45035943
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184570502	chr4:45033650-45033651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567317701	chr4:45033670-45033671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528698420	chr4:45033698-45033699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567274291	chr4:45033748-45033749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547123344	chr4:45033766-45033767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12510889	chr4:45033787-45033788	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs538995227	chr4:45033810-45033811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112027236	chr4:45033832-45033833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188644365	chr4:45033856-45033857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536214235	chr4:45033860-45033861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554666294	chr4:45033907-45033908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573242471	chr4:45033909-45033910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554253580	chr4:45033916-45033917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181431601	chr4:45033923-45033924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114779538	chr4:45033924-45033925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183720934	chr4:45033933-45033934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373101177	chr4:45033939-45033940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563558767	chr4:45033977-45033978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530535637	chr4:45033978-45033979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12499611	chr4:45033998-45033999	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs543428842	chr4:45033999-45034000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189315900	chr4:45034004-45034005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368593034	chr4:45034008-45034009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560821265	chr4:45034015-45034016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528145249	chr4:45034031-45034032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs180950995	chr4:45034032-45034033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571839836	chr4:45034071-45034072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532554728	chr4:45034113-45034114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187200881	chr4:45034116-45034117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191984934	chr4:45034119-45034120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536250452	chr4:45034129-45034130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73143278	chr4:45034144-45034145	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs566744883	chr4:45034153-45034154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534348867	chr4:45034192-45034193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113428818	chr4:45034207-45034208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62411631	chr4:45034246-45034247	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs545189854	chr4:45034247-45034248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557312250	chr4:45034250-45034251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575561056	chr4:45034264-45034265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181783917	chr4:45034268-45034269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369456692	chr4:45034288-45034289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572730653	chr4:45034317-45034318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528300974	chr4:45034331-45034332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564796971	chr4:45034360-45034361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536976482	chr4:45034459-45034460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116332725	chr4:45034540-45034541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550716196	chr4:45034546-45034547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562852238	chr4:45034563-45034564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112325675	chr4:45034589-45034590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573224090	chr4:45034619-45034620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:45029400-45035800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:45032200-45038400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr4:45032400-45038600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:45033200-45035800	Enhancers	Fetal Heart	heart
5	chr4:45034200-45034400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr4:45035000-45036000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:45035800-45036200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:45035800-45036200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:45035800-45036200	Flanking Active TSS	Fetal Heart	heart
10	chr4:45035800-45036400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:45035800-45036400	Enhancers	Fetal Kidney	kidney
12	chr4:45035800-45036600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr4:45035800-45037400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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