Variant report

Variant	esv3373046
Chromosome Location	chr3:56797725-56798235
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546629405	chr3:56797743-56797744	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7627580	chr3:56797768-56797769	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs7635288	chr3:56797788-56797789	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs7627647	chr3:56797830-56797831	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs142997970	chr3:56797857-56797858	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538407133	chr3:56797867-56797868	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs151089854	chr3:56797885-56797886	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191862096	chr3:56797984-56797985	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7635478	chr3:56797985-56797986	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs114306351	chr3:56798019-56798020	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573660393	chr3:56798035-56798036	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201157389	chr3:56798057-56798058	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77641345	chr3:56798095-56798096	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs398071827	chr3:56798099-56798100	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536563602	chr3:56798103-56798104	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10510788	chr3:56798129-56798130	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs183988042	chr3:56798151-56798152	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576158989	chr3:56798207-56798208	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545146036	chr3:56798233-56798234	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	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
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	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 mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Renal cell carcinoma	18765545	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Lung adenocarcinoma	21935476	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56764000-56815800	Weak transcription	Fetal Intestine Small	intestine
2	chr3:56783400-56802800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr3:56783600-56802800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr3:56783800-56802800	Weak transcription	Brain Hippocampus Middle	brain
5	chr3:56789200-56805800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr3:56789400-56802800	Weak transcription	Ovary	ovary
7	chr3:56789400-56803200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr3:56789400-56803200	Weak transcription	Fetal Stomach	stomach
9	chr3:56789600-56801200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr3:56790200-56804600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr3:56790400-56803200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:56790400-56803200	Weak transcription	Spleen	Spleen
13	chr3:56792600-56809600	Weak transcription	Small Intestine	intestine
14	chr3:56792800-56798200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:56792800-56801200	Strong transcription	Dnd41	blood
16	chr3:56792800-56803400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr3:56793000-56798200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr3:56793000-56801000	Weak transcription	NH-A	brain
19	chr3:56793000-56802600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:56793000-56802800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr3:56793000-56802800	Weak transcription	Brain Anterior Caudate	brain
22	chr3:56793000-56803600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr3:56793000-56804600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr3:56793200-56799400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:56793200-56802800	Weak transcription	Fetal Kidney	kidney
26	chr3:56793200-56802800	Weak transcription	HMEC	breast
27	chr3:56793200-56803400	Weak transcription	NHEK	skin
28	chr3:56793200-56806000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr3:56793200-56807200	Weak transcription	HUVEC	blood vessel
30	chr3:56793200-56817400	Weak transcription	Hela-S3	cervix
31	chr3:56793400-56801200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
32	chr3:56793600-56805400	Weak transcription	Esophagus	oesophagus
33	chr3:56793600-56809600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr3:56793800-56798400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr3:56793800-56803000	Weak transcription	HepG2	liver
36	chr3:56793800-56803600	Strong transcription	Fetal Thymus	thymus
37	chr3:56793800-56805600	Weak transcription	Primary B cells from cord blood	blood
38	chr3:56794000-56800200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr3:56794400-56798000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr3:56794800-56798000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr3:56794800-56802000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr3:56795400-56798200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr3:56795400-56800600	Strong transcription	Primary T cells from cord blood	blood
44	chr3:56796000-56800000	Strong transcription	Thymus	Thymus
45	chr3:56796200-56798400	Strong transcription	Primary B cells from peripheral blood	blood
46	chr3:56796200-56798600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
47	chr3:56796200-56801400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
48	chr3:56796400-56801200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr3:56796400-56803600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr3:56796400-56805400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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