Variant report

Variant	esv1848889
Chromosome Location	chr4:186977862-186979699
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573079970	chr4:186977877-186977878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200461967	chr4:186977938-186977939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201075299	chr4:186977968-186977969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185384188	chr4:186978167-186978168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111216542	chr4:186978825-186978826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190209822	chr4:186978961-186978962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181956804	chr4:186978970-186978971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185283279	chr4:186978987-186978988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs202182017	chr4:186978996-186978997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200980128	chr4:186979011-186979012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545270464	chr4:186979019-186979020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113972621	chr4:186979028-186979029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190040042	chr4:186979033-186979034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575391367	chr4:186979059-186979060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181189305	chr4:186979061-186979062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544377465	chr4:186979075-186979076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200234238	chr4:186979084-186979085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560977116	chr4:186979089-186979090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186498596	chr4:186979099-186979100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574552694	chr4:186979103-186979104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191484153	chr4:186979138-186979139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527346222	chr4:186979152-186979153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547098637	chr4:186979154-186979155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564062974	chr4:186979156-186979157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533453466	chr4:186979157-186979158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550100482	chr4:186979160-186979161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183237203	chr4:186979179-186979180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201729371	chr4:186979194-186979195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535678562	chr4:186979210-186979211	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs549536062	chr4:186979222-186979223	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs566065411	chr4:186979226-186979227	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs535072255	chr4:186979230-186979231	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs188692436	chr4:186979250-186979251	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs191930137	chr4:186979254-186979255	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs537439847	chr4:186979257-186979258	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs375071603	chr4:186979277-186979278	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs386683462	chr4:186979282-186979283	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs368399769	chr4:186979285-186979286	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs371498617	chr4:186979290-186979291	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs9799571	chr4:186979303-186979304	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs576389651	chr4:186979309-186979310	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs541675094	chr4:186979314-186979315	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs199772011	chr4:186979320-186979321	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs79394796	chr4:186979371-186979372	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs572048741	chr4:186979379-186979380	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs541080278	chr4:186979405-186979406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142525763	chr4:186979516-186979517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532810208	chr4:186979517-186979518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549342645	chr4:186979526-186979527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560072042	chr4:186979535-186979536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Metanephric adenoma	20802469	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
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17086460	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186972600-186980000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:186979200-186979400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
3	chr4:186979200-186979400	Enhancers	Spleen	Spleen
4	chr4:186979200-186980200	Enhancers	Primary B cells from cord blood	blood
5	chr4:186979200-186980800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:186979400-186980200	Enhancers	GM12878-XiMat	blood
7	chr4:186979400-186980400	Enhancers	Primary B cells from peripheral blood	blood
8	chr4:186979400-186980400	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr4:186979600-186980200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:186979600-186980200	Enhancers	Monocytes-CD14+_RO01746	blood

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