Variant report

Variant	esv33034
Chromosome Location	chr3:47565429-47578605
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:12)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:47573030..47576017-chr3:47582888..47584561,3	K562	blood:
2	chr3:47576894..47579860-chr3:47580473..47582532,3	K562	blood:
3	chr3:47564092..47565770-chr3:47566489..47568024,2	K562	blood:
4	chr3:47570695..47572679-chr3:47577270..47579482,2	K562	blood:
5	chr3:47576235..47579154-chr3:47602909..47605701,2	K562	blood:
6	chr3:47570695..47572679-chr3:47577270..47579482,2	K562	blood:
7	chr3:47577057..47579594-chr3:47584363..47586056,2	K562	blood:
8	chr3:47564092..47565770-chr3:47566489..47568024,2	K562	blood:
9	chr3:47574471..47577289-chr3:47582862..47584561,2	K562	blood:
10	chr3:47564010..47565743-chr3:47604722..47606616,2	MCF-7	breast:
11	chr3:47563227..47565346-chr3:47576506..47578189,2	K562	blood:
12	chr3:47576179..47578394-chr3:47580473..47583317,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPN23-2	chr3:47578358-47580118	XLOC_002639
2	lnc-PTPN23-2	chr3:47575529-47575612	XLOC_002639

No data

Variant related genes	Relation type
ENSG00000266443	chromatin interactions

Extended variants
information (count: 407 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:407 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373438583	chr3:47565448-47565449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs62260712	chr3:47565479-47565480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558924904	chr3:47565503-47565504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181893714	chr3:47565507-47565508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534832607	chr3:47565514-47565515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562231304	chr3:47565517-47565518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186585416	chr3:47565675-47565676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139946273	chr3:47565727-47565728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542250135	chr3:47565800-47565801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142169739	chr3:47565804-47565805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548371464	chr3:47565899-47565900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190393244	chr3:47566167-47566168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111436982	chr3:47566171-47566172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543589872	chr3:47566195-47566196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546203788	chr3:47566201-47566202	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs564961543	chr3:47566239-47566240	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs377666383	chr3:47566271-47566272	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs181633338	chr3:47566328-47566329	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs370532657	chr3:47566419-47566420	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547143365	chr3:47566494-47566495	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559031824	chr3:47566506-47566507	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs80205264	chr3:47566544-47566545	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566500591	chr3:47566696-47566697	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs368161010	chr3:47566843-47566844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547826911	chr3:47566859-47566860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562915271	chr3:47566906-47566907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186804008	chr3:47566972-47566973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191302663	chr3:47567012-47567013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs80306137	chr3:47567036-47567037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35905217	chr3:47567037-47567038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552713902	chr3:47567049-47567050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71098496	chr3:47567054-47567055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201501740	chr3:47567055-47567056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563128766	chr3:47567078-47567079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576503235	chr3:47567087-47567088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563177455	chr3:47567157-47567158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570925692	chr3:47567201-47567202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535233188	chr3:47567221-47567222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553460741	chr3:47567293-47567294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375306045	chr3:47567350-47567351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575036366	chr3:47567357-47567358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531774864	chr3:47567361-47567362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150781679	chr3:47567384-47567385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534128328	chr3:47567489-47567490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367563582	chr3:47567499-47567500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552489949	chr3:47567501-47567502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139137243	chr3:47567676-47567677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149808343	chr3:47567749-47567750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371393431	chr3:47567782-47567783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537819984	chr3:47567784-47567785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47555600-47568200	Weak transcription	Right Atrium	heart
2	chr3:47564000-47566200	Weak transcription	Fetal Thymus	thymus
3	chr3:47564200-47568000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:47564200-47569600	Weak transcription	NHEK	skin
5	chr3:47564400-47566200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr3:47564400-47569400	Weak transcription	HMEC	breast
7	chr3:47564600-47566600	Enhancers	HepG2	liver
8	chr3:47564600-47567200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr3:47565200-47569600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr3:47565200-47574800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:47565400-47565600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:47566000-47566200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr3:47566000-47566400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr3:47566200-47566400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr3:47566200-47566400	Enhancers	Fetal Thymus	thymus
16	chr3:47566200-47566800	Active TSS	Stomach Smooth Muscle	stomach
17	chr3:47569400-47570000	Enhancers	HMEC	breast
18	chr3:47569600-47569800	Enhancers	HepG2	liver
19	chr3:47569600-47570000	Enhancers	NHEK	skin
20	chr3:47569600-47570400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:47570000-47575000	Weak transcription	HMEC	breast
22	chr3:47570000-47575000	Weak transcription	NHEK	skin
23	chr3:47570400-47574400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:47574400-47575800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:47574800-47575600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:47574800-47575800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:47575000-47575200	Enhancers	K562	blood
28	chr3:47575000-47575600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:47575000-47575600	Enhancers	HMEC	breast
30	chr3:47575000-47575600	Flanking Active TSS	NHEK	skin
31	chr3:47575200-47576400	Flanking Active TSS	K562	blood
32	chr3:47575600-47575800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:47575600-47575800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr3:47575600-47576200	Enhancers	NHEK	skin
35	chr3:47576400-47577000	Enhancers	K562	blood
36	chr3:47576800-47579800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr3:47577000-47578200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr3:47577000-47583000	Weak transcription	K562	blood
39	chr3:47577400-47578800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:47577600-47577800	Enhancers	Brain Hippocampus Middle	brain
41	chr3:47577600-47577800	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr3:47577600-47578000	Enhancers	Brain Cingulate Gyrus	brain
43	chr3:47577600-47578000	Enhancers	Brain Germinal Matrix	brain
44	chr3:47577600-47578200	Active TSS	Brain Anterior Caudate	brain
45	chr3:47577600-47578600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr3:47577600-47578600	Enhancers	Brain Angular Gyrus	brain
47	chr3:47577600-47578600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr3:47577600-47578800	Enhancers	Brain Substantia Nigra	brain
49	chr3:47577600-47579200	Enhancers	Fetal Brain Male	brain
50	chr3:47577800-47578200	Flanking Active TSS	Brain Hippocampus Middle	brain

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