Variant report

Variant	esv2760856
Chromosome Location	chr4:158618645-158643426
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:158611240..158613129-chr4:158616587..158619461,2	MCF-7	breast:

Extended variants
information (count: 265 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:265 , 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	rs567925741	chr4:158621405-158621406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1532149	chr4:158621431-158621432	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs547162319	chr4:158621466-158621467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371782803	chr4:158621490-158621491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116118135	chr4:158621522-158621523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1532150	chr4:158621571-158621572	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs557003125	chr4:158621590-158621591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191918380	chr4:158621621-158621622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536226891	chr4:158621636-158621637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146045323	chr4:158621646-158621647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7680078	chr4:158621698-158621699	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs540097980	chr4:158621762-158621763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200673537	chr4:158621805-158621806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200992543	chr4:158621806-158621807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200837776	chr4:158621807-158621808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148718878	chr4:158621826-158621827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571957430	chr4:158621863-158621864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577070994	chr4:158621866-158621867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544337629	chr4:158621897-158621898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562540806	chr4:158621958-158621959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575252747	chr4:158621974-158621975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529741107	chr4:158621981-158621982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62334995	chr4:158622046-158622047	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs57948787	chr4:158622051-158622052	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs57079364	chr4:158622064-158622065	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs546937307	chr4:158622121-158622122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564047628	chr4:158622135-158622136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141569765	chr4:158622138-158622139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150916757	chr4:158622174-158622175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184215081	chr4:158622184-158622185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531160645	chr4:158622191-158622192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568996440	chr4:158622192-158622193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536292556	chr4:158622207-158622208	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs554948135	chr4:158622302-158622303	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs189810589	chr4:158622315-158622316	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs549768816	chr4:158622349-158622350	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs534101501	chr4:158622359-158622360	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs558535341	chr4:158622404-158622405	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs577131548	chr4:158622405-158622406	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs368546413	chr4:158622408-158622409	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs35666362	chr4:158622515-158622516	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs4691433	chr4:158622550-158622551	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs182073402	chr4:158622565-158622566	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs76676313	chr4:158622569-158622570	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs560103846	chr4:158622600-158622601	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs185429680	chr4:158622625-158622626	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs72690980	chr4:158622694-158622695	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs565217564	chr4:158622704-158622705	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs374680594	chr4:158622711-158622712	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs532604016	chr4:158622757-158622758	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Colorectal cancer	16774939	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:158621400-158622200	Enhancers	HUVEC	blood vessel
2	chr4:158621600-158621800	Enhancers	Left Ventricle	heart
3	chr4:158621600-158622000	Enhancers	Spleen	Spleen
4	chr4:158621800-158622800	Enhancers	Fetal Heart	heart
5	chr4:158621800-158622800	Weak transcription	Left Ventricle	heart
6	chr4:158622000-158622400	Weak transcription	Spleen	Spleen
7	chr4:158622200-158623400	Flanking Active TSS	HUVEC	blood vessel
8	chr4:158622400-158623000	Enhancers	Spleen	Spleen
9	chr4:158622600-158623000	Enhancers	Ovary	ovary
10	chr4:158622600-158623200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr4:158622800-158623000	Enhancers	Left Ventricle	heart
12	chr4:158622800-158624800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:158623000-158624000	Weak transcription	Left Ventricle	heart
14	chr4:158623400-158624400	Enhancers	HUVEC	blood vessel
15	chr4:158624200-158624400	Enhancers	Left Ventricle	heart
16	chr4:158624800-158626400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:158626400-158627600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:158626800-158628000	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr4:158634400-158634800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:158634400-158634800	Enhancers	Fetal Brain Male	brain
21	chr4:158643400-158644200	Enhancers	HMEC	breast

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