Variant report

Variant	esv3399519
Chromosome Location	chr3:46781798-46783896
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:46783722-46783880	Gliobla	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:46780631..46782178-chr3:46786371..46787877,2	K562	blood:
2	chr3:46780314..46782174-chr3:46791450..46793098,2	K562	blood:
3	chr3:46764632..46767218-chr3:46782393..46785331,2	K562	blood:
4	chr3:46783774..46785518-chr3:46915413..46918248,2	MCF-7	breast:

Variant related genes	Relation type
PRSS46	TF binding region

Extended variants
information (count: 100 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143057715	chr3:46781814-46781815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6801459	chr3:46781836-46781837	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs186737759	chr3:46781930-46781931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528195474	chr3:46781951-46781952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62246232	chr3:46782000-46782001	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs6789181	chr3:46782034-46782035	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs533654894	chr3:46782126-46782127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6764144	chr3:46782155-46782156	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs140622275	chr3:46782167-46782168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567784057	chr3:46782169-46782170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141587342	chr3:46782201-46782202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111453379	chr3:46782202-46782203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538126119	chr3:46782241-46782242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6801979	chr3:46782276-46782277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs193012573	chr3:46782280-46782281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74587973	chr3:46782352-46782353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377544058	chr3:46782372-46782373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138190714	chr3:46782445-46782446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62246233	chr3:46782461-46782462	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs529428113	chr3:46782487-46782488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375762749	chr3:46782489-46782490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374164655	chr3:46782503-46782504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62246234	chr3:46782507-46782508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62246235	chr3:46782514-46782515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377030210	chr3:46782522-46782523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371459988	chr3:46782525-46782526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375726896	chr3:46782527-46782528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11920442	chr3:46782542-46782543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542767354	chr3:46782551-46782552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11920444	chr3:46782560-46782561	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
31	rs13091982	chr3:46782577-46782578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561895241	chr3:46782578-46782579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189962010	chr3:46782579-46782580	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
34	rs13092008	chr3:46782605-46782606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182081325	chr3:46782607-46782608	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
36	rs184095952	chr3:46782609-46782610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13092159	chr3:46782633-46782634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544505465	chr3:46782640-46782641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13092172	chr3:46782661-46782662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13092191	chr3:46782689-46782690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13092338	chr3:46782695-46782696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9838628	chr3:46782696-46782697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11711872	chr3:46782707-46782708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13092325	chr3:46782717-46782718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188537626	chr3:46782719-46782720	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
46	rs113344810	chr3:46782723-46782724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370010400	chr3:46782724-46782725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12633179	chr3:46782735-46782736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551350864	chr3:46782737-46782738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566354154	chr3:46782740-46782741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	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
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Breast cancer	21509527	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Adrenocortical carcinoma	18281524	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Recurrent pregnancy loss	19789632	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46744000-46792200	Weak transcription	Right Atrium	heart
2	chr3:46769000-46792400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:46779200-46782000	Weak transcription	Left Ventricle	heart
4	chr3:46779400-46795400	Weak transcription	Spleen	Spleen
5	chr3:46779400-46799600	Weak transcription	Pancreas	Pancrea
6	chr3:46779800-46792800	Weak transcription	Thymus	Thymus
7	chr3:46780800-46785000	Weak transcription	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links