Variant report

Variant	esv3425791
Chromosome Location	chr3:47251348-47258346
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:47256438..47258456-chr3:47263578..47265840,2	K562	blood:
2	chr3:47251688..47253992-chr3:47255323..47258020,3	K562	blood:
3	chr3:47254260..47256683-chr3:47261651..47264367,2	MCF-7	breast:
4	chr3:47251688..47253992-chr3:47255323..47258020,3	K562	blood:
5	chr3:47246768..47248949-chr3:47249706..47251385,2	K562	blood:
6	chr3:47256140..47258456-chr3:47263578..47266012,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NBEAL2-2	chr3:47254898-47255063	refGeneNc_4033_NR_033373
2	lnc-NBEAL2-2	chr3:47252551-47252653	refGeneNc_4033_NR_033373
3	lnc-NBEAL2-2	chr3:47256109-47256688	refGeneNc_4033_NR_033373

No data

Extended variants
information (count: 221 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:221 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551798165	chr3:47251356-47251357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115141604	chr3:47251391-47251392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189843831	chr3:47251421-47251422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367969925	chr3:47251482-47251483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566321446	chr3:47251584-47251585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74481399	chr3:47251623-47251624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371529770	chr3:47251692-47251693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369098052	chr3:47251800-47251801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535620250	chr3:47251820-47251821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs60313347	chr3:47251822-47251823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9812756	chr3:47251824-47251825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9812757	chr3:47251826-47251827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62248897	chr3:47251828-47251829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62248898	chr3:47251830-47251831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62248899	chr3:47251832-47251833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62248900	chr3:47251834-47251835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557652602	chr3:47251867-47251868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537625533	chr3:47251941-47251942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549696041	chr3:47252022-47252023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569127794	chr3:47252117-47252118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539084664	chr3:47252126-47252127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375983485	chr3:47252159-47252160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7629441	chr3:47252254-47252255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs143688589	chr3:47252255-47252256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577972909	chr3:47252278-47252279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11922925	chr3:47252382-47252383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs544930553	chr3:47252387-47252388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7643181	chr3:47252408-47252409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs563086594	chr3:47252423-47252424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533669837	chr3:47252455-47252456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554255032	chr3:47252482-47252483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545678773	chr3:47252551-47252552	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs560491728	chr3:47252585-47252586	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs112610092	chr3:47252614-47252615	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs201023001	chr3:47252642-47252643	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs192548675	chr3:47252651-47252652	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs115416775	chr3:47252671-47252672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141268148	chr3:47252714-47252715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529121093	chr3:47252731-47252732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535480427	chr3:47252812-47252813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183988470	chr3:47252821-47252822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568916874	chr3:47252832-47252833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539350277	chr3:47252866-47252867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540317793	chr3:47252905-47252906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553441152	chr3:47252910-47252911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572115500	chr3:47252936-47252937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553860412	chr3:47252995-47252996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188033132	chr3:47253013-47253014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs180891168	chr3:47253040-47253041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555199073	chr3:47253057-47253058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47207000-47253800	Weak transcription	Aorta	Aorta
2	chr3:47208200-47256400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr3:47208200-47276600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:47223400-47256600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:47223800-47252600	Weak transcription	Fetal Muscle Leg	muscle
6	chr3:47223800-47269200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr3:47236200-47256800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:47238400-47256400	Weak transcription	Right Atrium	heart
9	chr3:47245400-47266600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:47247000-47269400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:47252800-47253800	Enhancers	HepG2	liver
12	chr3:47253200-47254000	Enhancers	K562	blood
13	chr3:47253800-47254000	ZNF genes & repeats	Aorta	Aorta
14	chr3:47253800-47254000	Enhancers	Spleen	Spleen
15	chr3:47254000-47256600	Weak transcription	K562	blood
16	chr3:47254200-47255400	Weak transcription	Spleen	Spleen
17	chr3:47256400-47257200	Enhancers	Brain Cingulate Gyrus	brain
18	chr3:47256600-47256800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr3:47256600-47257200	Enhancers	K562	blood
20	chr3:47256800-47257200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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