Variant report

Variant	nsv237516
Chromosome Location	chr3:49565736-49566283
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:49552836..49554741-chr3:49566217..49568088,2	K562	blood:
2	chr3:49565205..49567753-chr3:49570850..49573509,2	K562	blood:
3	chr3:49565566..49567753-chr3:49570850..49572538,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553711471	chr3:49565748-49565749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187488869	chr3:49565786-49565787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190584687	chr3:49565800-49565801	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542485357	chr3:49565826-49565827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182762634	chr3:49565831-49565832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7638643	chr3:49565842-49565843	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs535935093	chr3:49565843-49565844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201357763	chr3:49565862-49565863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144932003	chr3:49565873-49565874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547937347	chr3:49565890-49565891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540099168	chr3:49565964-49565965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561653871	chr3:49565965-49565966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377764831	chr3:49565982-49565983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs386660845	chr3:49565997-49565998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138754805	chr3:49566013-49566014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550792619	chr3:49566035-49566036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570037199	chr3:49566094-49566095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188296767	chr3:49566105-49566106	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192530946	chr3:49566156-49566157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566197712	chr3:49566181-49566182	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539412883	chr3:49566188-49566189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570818640	chr3:49566192-49566193	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576617821	chr3:49566204-49566205	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370952734	chr3:49566228-49566229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376787413	chr3:49566231-49566232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553697020	chr3:49566281-49566282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568809166	chr3:49566282-49566283	Weak transcription Strong 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
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medullary thyroid carcinoma	18765511	CNVD
abnormal development	18461090	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic endocrine tumor	17639061	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49529600-49568600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr3:49539600-49568600	Weak transcription	Small Intestine	intestine
3	chr3:49546200-49577000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr3:49547000-49572000	Weak transcription	Fetal Brain Male	brain
5	chr3:49548400-49577400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:49549200-49568800	Weak transcription	Osteobl	bone
7	chr3:49550800-49568400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr3:49551400-49571400	Weak transcription	Stomach Mucosa	stomach
9	chr3:49551400-49572200	Weak transcription	NH-A	brain
10	chr3:49551600-49567600	Weak transcription	K562	blood
11	chr3:49551600-49569400	Weak transcription	Fetal Kidney	kidney
12	chr3:49553800-49568400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:49554000-49567000	Weak transcription	A549	lung
14	chr3:49554000-49567600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr3:49554400-49568200	Weak transcription	NHDF-Ad	bronchial
16	chr3:49555400-49567600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:49555400-49567600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:49555400-49567800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr3:49555400-49568000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr3:49555400-49568200	Weak transcription	NHLF	lung
21	chr3:49555400-49568600	Weak transcription	Fetal Lung	lung
22	chr3:49555600-49567800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr3:49555800-49568400	Weak transcription	HUVEC	blood vessel
24	chr3:49555800-49572200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr3:49556000-49568000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr3:49556000-49568000	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr3:49556000-49568600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr3:49556200-49567000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr3:49556200-49567400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr3:49556200-49567600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr3:49556200-49568000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr3:49556400-49567800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr3:49556400-49567800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr3:49556600-49566800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr3:49556600-49567200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr3:49557000-49567800	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr3:49557000-49567800	Weak transcription	Colonic Mucosa	Colon
38	chr3:49557000-49568400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr3:49557200-49567800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr3:49557200-49568200	Weak transcription	Colon Smooth Muscle	Colon
41	chr3:49557600-49572000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr3:49557800-49567400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr3:49557800-49567400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr3:49557800-49567600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr3:49558000-49567600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:49558000-49567600	Weak transcription	Aorta	Aorta
47	chr3:49558000-49568000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr3:49558000-49568200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr3:49558000-49568200	Weak transcription	Ovary	ovary
50	chr3:49558200-49567600	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links