Variant report

Variant	esv3427972
Chromosome Location	chr4:187902008-187904106
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 136 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183020870	chr4:187902025-187902026	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs562520537	chr4:187902041-187902042	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs576155660	chr4:187902077-187902078	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs573831929	chr4:187902078-187902079	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs143831061	chr4:187902129-187902130	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs531709449	chr4:187902153-187902154	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs561973444	chr4:187902170-187902171	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs73031418	chr4:187902181-187902182	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs369811411	chr4:187902188-187902189	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs148161806	chr4:187902191-187902192	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs560612726	chr4:187902196-187902197	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs532638562	chr4:187902226-187902227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552767532	chr4:187902234-187902235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201479964	chr4:187902253-187902254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs66617542	chr4:187902254-187902255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527786174	chr4:187902295-187902296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369045214	chr4:187902304-187902305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73031420	chr4:187902319-187902320	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs576132382	chr4:187902332-187902333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538400859	chr4:187902336-187902337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188930090	chr4:187902379-187902380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568411670	chr4:187902394-187902395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544709735	chr4:187902397-187902398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533583858	chr4:187902414-187902415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs193236301	chr4:187902559-187902560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs55951937	chr4:187902569-187902570	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs55741073	chr4:187902572-187902573	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs556187808	chr4:187902580-187902581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140956169	chr4:187902645-187902646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150190839	chr4:187902651-187902652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561884092	chr4:187902676-187902677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551372807	chr4:187902682-187902683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370400152	chr4:187902747-187902748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs67672219	chr4:187902748-187902749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs59980028	chr4:187902756-187902757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs9999175	chr4:187902778-187902779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10021395	chr4:187902780-187902781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371244238	chr4:187902787-187902788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs57416014	chr4:187902789-187902790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs58441565	chr4:187902800-187902801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572364763	chr4:187902804-187902805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs59939142	chr4:187902806-187902807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs59183366	chr4:187902815-187902816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374530050	chr4:187902817-187902818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376858644	chr4:187902820-187902821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568519167	chr4:187902825-187902826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369016994	chr4:187902826-187902827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373323692	chr4:187902827-187902828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368822843	chr4:187902828-187902829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs56135060	chr4:187902829-187902830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

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
Pancreatic cancer	17952125	CNVD
Oral cancer	17325662	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187901200-187902200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:187901200-187902600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:187901200-187902600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:187901400-187902200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:187901400-187902400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr4:187901400-187902400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr4:187901400-187902600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:187901400-187902600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:187901400-187902800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr4:187901600-187902600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr4:187901800-187902200	Flanking Active TSS	Osteobl	bone
12	chr4:187901800-187902400	Enhancers	Fetal Lung	lung
13	chr4:187901800-187905000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:187902000-187902200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:187902000-187902400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr4:187902000-187902400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:187902200-187902400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:187902200-187902600	Enhancers	Osteobl	bone
19	chr4:187902400-187902600	Enhancers	Fetal Kidney	kidney
20	chr4:187902600-187904000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:187902600-187905400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:187902800-187904800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr4:187904000-187906600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:187904000-187909000	Weak transcription	Aorta	Aorta

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