Variant report

Variant	esv3427342
Chromosome Location	chr3:51469431-51469635
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548326681	chr3:51469431-51469432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74749070	chr3:51469440-51469441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553906453	chr3:51469445-51469446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565717062	chr3:51469495-51469496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536483619	chr3:51469532-51469533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76057703	chr3:51469547-51469548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79990271	chr3:51469548-51469549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77119227	chr3:51469549-51469550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79210467	chr3:51469551-51469552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77313671	chr3:51469560-51469561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74421432	chr3:51469561-51469562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs202016512	chr3:51469564-51469565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs386660891	chr3:51469577-51469578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77574997	chr3:51469580-51469581	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs386660892	chr3:51469582-51469583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377334844	chr3:51469583-51469584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77990907	chr3:51469584-51469585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74805240	chr3:51469589-51469590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75067879	chr3:51469590-51469591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371366750	chr3:51469591-51469592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78492179	chr3:51469592-51469593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6445712	chr3:51469598-51469599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7429460	chr3:51469613-51469614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7430222	chr3:51469614-51469615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7430223	chr3:51469624-51469625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79823232	chr3:51469631-51469632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566856026	chr3:51469632-51469633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56287640	chr3:51469635-51469636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
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
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
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51431400-51471200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr3:51433400-51477400	Weak transcription	Fetal Heart	heart
3	chr3:51434000-51475600	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr3:51434200-51477600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:51434600-51471000	Weak transcription	Stomach Mucosa	stomach
6	chr3:51435200-51478000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:51439800-51478000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:51440800-51478200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr3:51444800-51477800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr3:51445400-51478400	Strong transcription	Primary B cells from peripheral blood	blood
11	chr3:51446200-51471000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:51451200-51476800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr3:51451400-51469600	Strong transcription	Fetal Stomach	stomach
14	chr3:51458000-51474800	Weak transcription	K562	blood
15	chr3:51458200-51474400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:51458200-51474600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr3:51458200-51475200	Weak transcription	NHLF	lung
18	chr3:51458200-51475400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr3:51458200-51477600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr3:51458200-51478400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:51458200-51489400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr3:51458200-51515000	Weak transcription	Fetal Brain Male	brain
23	chr3:51458400-51473000	Weak transcription	Pancreas	Pancrea
24	chr3:51458400-51474200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:51458400-51475400	Weak transcription	Gastric	stomach
26	chr3:51458400-51500200	Weak transcription	Psoas Muscle	Psoas
27	chr3:51458800-51503800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr3:51460000-51472400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr3:51460000-51475400	Weak transcription	Aorta	Aorta
30	chr3:51460200-51474000	Weak transcription	A549	lung
31	chr3:51461800-51478000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:51462400-51478200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr3:51462600-51470600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:51462600-51476000	Strong transcription	Primary T cells from cord blood	blood
35	chr3:51462600-51477000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr3:51462600-51477200	Strong transcription	Placenta	Placenta
37	chr3:51462600-51477400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr3:51462600-51477400	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr3:51462800-51475400	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr3:51463000-51477200	Strong transcription	Liver	Liver
41	chr3:51463000-51477600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr3:51463200-51470400	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr3:51463200-51470600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr3:51463200-51471800	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr3:51463200-51478000	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr3:51463400-51470400	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr3:51463400-51470600	Strong transcription	Duodenum Mucosa	Duodenum
48	chr3:51463400-51470600	Strong transcription	GM12878-XiMat	blood
49	chr3:51463400-51478200	Strong transcription	Dnd41	blood
50	chr3:51463600-51470800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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