Variant report

Variant	esv3340964
Chromosome Location	chr3:54427737-54432360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531712199	chr3:54427746-54427747	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs150136660	chr3:54427782-54427783	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs6769553	chr3:54427795-54427796	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs532456294	chr3:54427838-54427839	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138671219	chr3:54427839-54427840	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558932389	chr3:54427840-54427841	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528116165	chr3:54427853-54427854	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192310731	chr3:54427879-54427880	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377186325	chr3:54427910-54427911	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9870407	chr3:54427914-54427915	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs76183499	chr3:54427960-54427961	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570929535	chr3:54427987-54427988	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540140338	chr3:54428000-54428001	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549802994	chr3:54428006-54428007	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148890494	chr3:54428033-54428034	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567165246	chr3:54428077-54428078	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547965197	chr3:54428082-54428083	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143450106	chr3:54428093-54428094	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555779145	chr3:54428122-54428123	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575707244	chr3:54428170-54428171	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184090810	chr3:54428176-54428177	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557119312	chr3:54428240-54428241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147971851	chr3:54428255-54428256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115848928	chr3:54428256-54428257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143547692	chr3:54428260-54428261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528346902	chr3:54428281-54428282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370298527	chr3:54428313-54428314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187356632	chr3:54428324-54428325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373809020	chr3:54428327-54428328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34291779	chr3:54428345-54428346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200791593	chr3:54428346-54428347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71074966	chr3:54428359-54428360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11130419	chr3:54428360-54428361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375721096	chr3:54428363-54428364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142720248	chr3:54428419-54428420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530652930	chr3:54428480-54428481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550358984	chr3:54428502-54428503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571036552	chr3:54428615-54428616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369836073	chr3:54428641-54428642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149225934	chr3:54428642-54428643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369935068	chr3:54428656-54428657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567202073	chr3:54428658-54428659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536120990	chr3:54428691-54428692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555751461	chr3:54428709-54428710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569107855	chr3:54428730-54428731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62256124	chr3:54428798-54428799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200763931	chr3:54428988-54428989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201248663	chr3:54429168-54429169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112447221	chr3:54429532-54429533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377007109	chr3:54429554-54429555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Renal cell carcinoma	18765545	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54425400-54428400	Weak transcription	Colon Smooth Muscle	Colon
2	chr3:54426600-54429000	Weak transcription	Brain Substantia Nigra	brain
3	chr3:54427200-54428200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
4	chr3:54427400-54427800	Enhancers	Pancreas	Pancrea
5	chr3:54427600-54427800	Bivalent Enhancer	Right Ventricle	heart
6	chr3:54427800-54428200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:54428200-54434400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links