Variant report

Variant	esv3356137
Chromosome Location	chr4:7565152-7569850
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 261 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536992357	chr4:7565241-7565242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538847734	chr4:7565246-7565247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551953428	chr4:7565261-7565262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143104720	chr4:7565281-7565282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534795484	chr4:7565296-7565297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553451855	chr4:7565315-7565316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574694202	chr4:7565337-7565338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186768225	chr4:7565360-7565361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138652775	chr4:7565420-7565421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576005602	chr4:7565516-7565517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111434673	chr4:7565571-7565572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538657655	chr4:7565605-7565606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564653035	chr4:7565610-7565611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs870012	chr4:7565617-7565618	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs870013	chr4:7565622-7565623	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs79534976	chr4:7565623-7565624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555769518	chr4:7565627-7565628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4605653	chr4:7565632-7565633	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs114873341	chr4:7565681-7565682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573931913	chr4:7565692-7565693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4290892	chr4:7565734-7565735	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs556246371	chr4:7565738-7565739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577667375	chr4:7565759-7565760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184073231	chr4:7565802-7565803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs386671257	chr4:7565813-7565814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4540045	chr4:7565814-7565815	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs6839110	chr4:7565835-7565836	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs375533338	chr4:7565847-7565848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528022679	chr4:7565848-7565849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546735051	chr4:7565918-7565919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568530025	chr4:7565945-7565946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77212893	chr4:7565953-7565954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs870014	chr4:7565963-7565964	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs575742747	chr4:7565998-7565999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4508882	chr4:7566006-7566007	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs558511623	chr4:7566009-7566010	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs573310671	chr4:7566016-7566017	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs540833016	chr4:7566021-7566022	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs142717634	chr4:7566073-7566074	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs574473527	chr4:7566081-7566082	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs531322885	chr4:7566089-7566090	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs144250551	chr4:7566128-7566129	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs562931546	chr4:7566151-7566152	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs874235	chr4:7566153-7566154	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs114247666	chr4:7566154-7566155	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs75332900	chr4:7566191-7566192	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs547588374	chr4:7566218-7566219	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs116259619	chr4:7566220-7566221	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs528414728	chr4:7566241-7566242	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs546768839	chr4:7566258-7566259	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7558200-7565400	Weak transcription	Brain Substantia Nigra	brain
2	chr4:7562600-7565200	Weak transcription	HepG2	liver
3	chr4:7562600-7565600	Weak transcription	Liver	Liver
4	chr4:7563400-7567200	Weak transcription	Fetal Kidney	kidney
5	chr4:7565200-7566000	Enhancers	HepG2	liver
6	chr4:7565200-7566600	Enhancers	Brain Cingulate Gyrus	brain
7	chr4:7565200-7566800	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr4:7565400-7566600	Enhancers	Brain Substantia Nigra	brain
9	chr4:7565600-7566800	Enhancers	Liver	Liver
10	chr4:7565800-7566200	Enhancers	Right Atrium	heart
11	chr4:7565800-7566400	Enhancers	Brain Angular Gyrus	brain
12	chr4:7565800-7566400	Enhancers	Spleen	Spleen
13	chr4:7565800-7566600	Enhancers	Fetal Intestine Small	intestine
14	chr4:7565800-7566600	Enhancers	Left Ventricle	heart
15	chr4:7565800-7566800	Enhancers	Brain Hippocampus Middle	brain
16	chr4:7565800-7566800	Enhancers	Ovary	ovary
17	chr4:7566000-7566400	Flanking Active TSS	HepG2	liver
18	chr4:7566200-7566600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:7566400-7566800	Enhancers	HepG2	liver
20	chr4:7566400-7567000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:7566400-7573400	Weak transcription	Spleen	Spleen
22	chr4:7566600-7567600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:7566600-7572000	Weak transcription	Brain Substantia Nigra	brain
24	chr4:7567000-7571600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr4:7567200-7568200	ZNF genes & repeats	Fetal Kidney	kidney
26	chr4:7567400-7567800	Active TSS	Fetal Brain Male	brain
27	chr4:7567400-7568000	Bivalent/Poised TSS	Fetal Lung	lung
28	chr4:7567600-7568200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:7567600-7568200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
30	chr4:7567800-7572200	Weak transcription	Fetal Brain Male	brain
31	chr4:7568200-7571600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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