Variant report

Variant	esv3350897
Chromosome Location	chr4:173184927-173186925
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34580068	chr4:173184946-173184947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs180697131	chr4:173184990-173184991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77946488	chr4:173185034-173185035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535794342	chr4:173185092-173185093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556976733	chr4:173185142-173185143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142641986	chr4:173185148-173185149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113054452	chr4:173185208-173185209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540155105	chr4:173185243-173185244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184484312	chr4:173185248-173185249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28529297	chr4:173185253-173185254	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs62332764	chr4:173185275-173185276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557824981	chr4:173185350-173185351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556784847	chr4:173185401-173185402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562219906	chr4:173185406-173185407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34299210	chr4:173185466-173185467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78278195	chr4:173185469-173185470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577741059	chr4:173185491-173185492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10021776	chr4:173185572-173185573	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs182447659	chr4:173185579-173185580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145724575	chr4:173185607-173185608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539254417	chr4:173185621-173185622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541110972	chr4:173185623-173185624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35627189	chr4:173185632-173185633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61193660	chr4:173185635-173185636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34940443	chr4:173185637-173185638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374155670	chr4:173185707-173185708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567060694	chr4:173185731-173185732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10686346	chr4:173185744-173185745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72082854	chr4:173185762-173185763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549605532	chr4:173185767-173185768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10010558	chr4:173185798-173185799	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs541770657	chr4:173185823-173185824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367691080	chr4:173185824-173185825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559402695	chr4:173185852-173185853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201159753	chr4:173185906-173185907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562058311	chr4:173185968-173185969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527481255	chr4:173186009-173186010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528347174	chr4:173186050-173186051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371355156	chr4:173186059-173186060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186687628	chr4:173186065-173186066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567911020	chr4:173186193-173186194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374263333	chr4:173186217-173186218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547642019	chr4:173186281-173186282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537183878	chr4:173186343-173186344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550638978	chr4:173186347-173186348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114359640	chr4:173186350-173186351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377400053	chr4:173186396-173186397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565651940	chr4:173186402-173186403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539466293	chr4:173186440-173186441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370835618	chr4:173186518-173186519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
High-grade prostatic intraepithelial neoplasia	16573809	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
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:173184600-173187200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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