Variant report

Variant	esv2762492
Chromosome Location	chr4:187876287-187878593
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549032193	chr4:187876289-187876290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552112879	chr4:187876330-187876331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568865679	chr4:187876347-187876348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1346127	chr4:187876389-187876390	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs1346126	chr4:187876404-187876405	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs571099251	chr4:187876435-187876436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114858275	chr4:187876436-187876437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6553029	chr4:187876470-187876471	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs571836805	chr4:187876480-187876481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191700752	chr4:187876499-187876500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147334319	chr4:187876503-187876504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538664257	chr4:187876545-187876546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141009926	chr4:187876548-187876549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142299310	chr4:187876564-187876565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544680910	chr4:187876648-187876649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112842156	chr4:187876656-187876657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7664463	chr4:187876686-187876687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs575062440	chr4:187876731-187876732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540797828	chr4:187876757-187876758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560778445	chr4:187876812-187876813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532797085	chr4:187876819-187876820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6821507	chr4:187876829-187876830	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs11436427	chr4:187876849-187876850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369815527	chr4:187876850-187876851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371114189	chr4:187876852-187876853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs397935983	chr4:187876853-187876854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562495594	chr4:187876874-187876875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375317065	chr4:187876876-187876877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183888889	chr4:187876909-187876910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567788903	chr4:187876918-187876919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186441053	chr4:187876925-187876926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547147294	chr4:187876932-187876933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111349525	chr4:187876936-187876937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539716685	chr4:187876942-187876943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28398878	chr4:187877054-187877055	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs569218101	chr4:187877059-187877060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4862744	chr4:187877074-187877075	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs4862745	chr4:187877124-187877125	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs574947137	chr4:187877126-187877127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534398420	chr4:187877139-187877140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4862746	chr4:187877154-187877155	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs577509829	chr4:187877196-187877197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115757490	chr4:187877208-187877209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141039613	chr4:187877224-187877225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4862747	chr4:187877236-187877237	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs541392118	chr4:187877289-187877290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545324237	chr4:187877296-187877297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73029408	chr4:187877334-187877335	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs547235108	chr4:187877376-187877377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4862748	chr4:187877388-187877389	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:78)

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
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
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	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
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
Oral cancer	21386901	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187868400-187880800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:187874800-187876400	Enhancers	Fetal Muscle Leg	muscle
3	chr4:187875000-187876400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr4:187875200-187876600	Enhancers	Fetal Stomach	stomach
5	chr4:187875400-187879000	Weak transcription	HMEC	breast
6	chr4:187875400-187879200	Weak transcription	Osteobl	bone
7	chr4:187875600-187879200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:187876200-187876400	Enhancers	Fetal Lung	lung
9	chr4:187876200-187876400	Enhancers	Lung	lung
10	chr4:187876400-187879400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:187877200-187878000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:187878000-187879800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:187878000-187879800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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