Variant report

Variant	esv3447531
Chromosome Location	chr4:7565952-7569550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7565122..7567092-chr4:7570466..7572074,2	MCF-7	breast:
2	chr4:7564031..7566362-chr4:7585647..7587570,2	MCF-7	breast:
3	chr4:7568412..7571400-chr4:7581006..7582708,2	MCF-7	breast:
4	chr4:7565125..7567674-chr4:7573256..7575494,3	MCF-7	breast:

Extended variants
information (count: 217 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:217 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77212893	chr4:7565953-7565954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs870014	chr4:7565963-7565964	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs575742747	chr4:7565998-7565999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4508882	chr4:7566006-7566007	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs558511623	chr4:7566009-7566010	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs573310671	chr4:7566016-7566017	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs540833016	chr4:7566021-7566022	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs142717634	chr4:7566073-7566074	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs574473527	chr4:7566081-7566082	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs531322885	chr4:7566089-7566090	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs144250551	chr4:7566128-7566129	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs562931546	chr4:7566151-7566152	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs874235	chr4:7566153-7566154	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs114247666	chr4:7566154-7566155	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs75332900	chr4:7566191-7566192	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs547588374	chr4:7566218-7566219	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs116259619	chr4:7566220-7566221	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs528414728	chr4:7566241-7566242	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs546768839	chr4:7566258-7566259	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs536578249	chr4:7566263-7566264	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs568189517	chr4:7566269-7566270	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs529372270	chr4:7566309-7566310	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs116380737	chr4:7566341-7566342	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs4263405	chr4:7566344-7566345	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs147425477	chr4:7566350-7566351	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs13142919	chr4:7566354-7566355	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs57644708	chr4:7566381-7566382	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs189966904	chr4:7566383-7566384	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs182342061	chr4:7566427-7566428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555909115	chr4:7566451-7566452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574187792	chr4:7566469-7566470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541492516	chr4:7566486-7566487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs871938	chr4:7566549-7566550	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs34719572	chr4:7566570-7566571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28579975	chr4:7566574-7566575	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs554372588	chr4:7566587-7566588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114300229	chr4:7566596-7566597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186671807	chr4:7566625-7566626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540192111	chr4:7566657-7566658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375391882	chr4:7566692-7566693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529098933	chr4:7566705-7566706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551048150	chr4:7566706-7566707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115915039	chr4:7566714-7566715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533507826	chr4:7566734-7566735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564233118	chr4:7566761-7566762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566782448	chr4:7566762-7566763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534493056	chr4:7566771-7566772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555804775	chr4:7566772-7566773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139738108	chr4:7566773-7566774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs16840516	chr4:7566784-7566785	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	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
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7563400-7567200	Weak transcription	Fetal Kidney	kidney
2	chr4:7565200-7566000	Enhancers	HepG2	liver
3	chr4:7565200-7566600	Enhancers	Brain Cingulate Gyrus	brain
4	chr4:7565200-7566800	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr4:7565400-7566600	Enhancers	Brain Substantia Nigra	brain
6	chr4:7565600-7566800	Enhancers	Liver	Liver
7	chr4:7565800-7566200	Enhancers	Right Atrium	heart
8	chr4:7565800-7566400	Enhancers	Brain Angular Gyrus	brain
9	chr4:7565800-7566400	Enhancers	Spleen	Spleen
10	chr4:7565800-7566600	Enhancers	Fetal Intestine Small	intestine
11	chr4:7565800-7566600	Enhancers	Left Ventricle	heart
12	chr4:7565800-7566800	Enhancers	Brain Hippocampus Middle	brain
13	chr4:7565800-7566800	Enhancers	Ovary	ovary
14	chr4:7566000-7566400	Flanking Active TSS	HepG2	liver
15	chr4:7566200-7566600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:7566400-7566800	Enhancers	HepG2	liver
17	chr4:7566400-7567000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:7566400-7573400	Weak transcription	Spleen	Spleen
19	chr4:7566600-7567600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:7566600-7572000	Weak transcription	Brain Substantia Nigra	brain
21	chr4:7567000-7571600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr4:7567200-7568200	ZNF genes & repeats	Fetal Kidney	kidney
23	chr4:7567400-7567800	Active TSS	Fetal Brain Male	brain
24	chr4:7567400-7568000	Bivalent/Poised TSS	Fetal Lung	lung
25	chr4:7567600-7568200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:7567600-7568200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
27	chr4:7567800-7572200	Weak transcription	Fetal Brain Male	brain
28	chr4:7568200-7571600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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