Variant report

Variant	esv3353631
Chromosome Location	chr3:52674774-52675289
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:52674322..52677027-chr3:52678339..52680571,2	K562	blood:
2	chr3:52674237..52676462-chr3:52737613..52740110,2	K562	blood:

Variant related genes	Relation type
ENSG00000114902	chromatin interactions
ENSG00000016864	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531912074	chr3:52674780-52674781	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs550147666	chr3:52674800-52674801	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs192123821	chr3:52674856-52674857	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs539063324	chr3:52674864-52674865	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs552989793	chr3:52674904-52674905	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs566458169	chr3:52674934-52674935	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs535608281	chr3:52674960-52674961	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs530834077	chr3:52674982-52674983	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs555626742	chr3:52674995-52674996	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs182632644	chr3:52675002-52675003	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs11130311	chr3:52675005-52675006	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs114039838	chr3:52675020-52675021	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs11130312	chr3:52675055-52675056	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs185125375	chr3:52675115-52675116	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs560601998	chr3:52675146-52675147	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs562647481	chr3:52675201-52675202	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs151219622	chr3:52675202-52675203	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs189981272	chr3:52675211-52675212	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs182614476	chr3:52675231-52675232	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs551609140	chr3:52675235-52675236	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs13086898	chr3:52675279-52675280	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:90)

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
Chronic lymphocytic leukemia	20421269	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Lung cancer	16618734	CNVD
Neuroblastoma	19686582	CNVD
Renal cell carcinoma	18765545	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52587200-52719200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:52591000-52688000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr3:52592200-52719200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:52634800-52686000	Strong transcription	Duodenum Mucosa	Duodenum
5	chr3:52636000-52703800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:52636000-52704000	Strong transcription	Placenta	Placenta
7	chr3:52636200-52703200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr3:52636600-52677400	Weak transcription	Pancreas	Pancrea
9	chr3:52636800-52703600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr3:52637200-52715800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:52640800-52684600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:52642400-52676400	Weak transcription	Small Intestine	intestine
13	chr3:52642600-52711200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr3:52643400-52691200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:52643600-52677200	Weak transcription	Fetal Heart	heart
16	chr3:52643800-52682800	Weak transcription	K562	blood
17	chr3:52650000-52712200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr3:52655200-52716400	Strong transcription	Fetal Thymus	thymus
19	chr3:52655600-52680200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr3:52655600-52680200	Strong transcription	Fetal Muscle Leg	muscle
21	chr3:52655800-52684600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:52655800-52697600	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr3:52655800-52704000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:52656000-52683200	Strong transcription	Adipose Nuclei	Adipose
25	chr3:52656600-52680200	Strong transcription	Fetal Muscle Trunk	muscle
26	chr3:52656600-52704600	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr3:52657000-52697200	Strong transcription	Liver	Liver
28	chr3:52657000-52697600	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr3:52658000-52702800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr3:52660800-52704800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr3:52664000-52677000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr3:52664400-52679800	Strong transcription	Brain Germinal Matrix	brain
33	chr3:52664600-52701600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:52665400-52719200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr3:52666200-52702400	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr3:52666400-52679000	Strong transcription	Fetal Intestine Small	intestine
37	chr3:52666600-52683200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:52667800-52675800	Weak transcription	Fetal Brain Male	brain
39	chr3:52667800-52679800	Strong transcription	Fetal Stomach	stomach
40	chr3:52669000-52675600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr3:52670200-52679800	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr3:52670400-52704600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr3:52670800-52675400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr3:52670800-52679800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr3:52670800-52680000	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr3:52670800-52682200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr3:52670800-52682800	Strong transcription	Osteobl	bone
48	chr3:52670800-52686000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr3:52670800-52686200	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr3:52670800-52715400	Strong transcription	Dnd41	blood

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