Variant report

Variant	nsv236200
Chromosome Location	chr3:43029502-43031844
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575258279	chr3:43029507-43029508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534176293	chr3:43029544-43029545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187180297	chr3:43029580-43029581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577382492	chr3:43029606-43029607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs834180	chr3:43029607-43029608	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs562875568	chr3:43029612-43029613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576163804	chr3:43029622-43029623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs834179	chr3:43029654-43029655	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs189862952	chr3:43029721-43029722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377718780	chr3:43029750-43029751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527588326	chr3:43029789-43029790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182129764	chr3:43029809-43029810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563762735	chr3:43029810-43029811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532832226	chr3:43029878-43029879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549834493	chr3:43029882-43029883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569681684	chr3:43029893-43029894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538431294	chr3:43029911-43029912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548541424	chr3:43029962-43029963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568730402	chr3:43029978-43029979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185764277	chr3:43029992-43029993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs72869035	chr3:43030038-43030039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577293902	chr3:43030059-43030060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539476559	chr3:43030070-43030071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371429776	chr3:43030091-43030092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144597277	chr3:43030136-43030137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576498715	chr3:43030158-43030159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541965827	chr3:43030166-43030167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561546526	chr3:43030167-43030168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571980037	chr3:43030218-43030219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540944616	chr3:43030279-43030280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549709	chr3:43030337-43030338	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs377643748	chr3:43030349-43030350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532922035	chr3:43030390-43030391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549561536	chr3:43030402-43030403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563388088	chr3:43030405-43030406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535762585	chr3:43030427-43030428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138622918	chr3:43030432-43030433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190137045	chr3:43030495-43030496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568685031	chr3:43030510-43030511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74724531	chr3:43030560-43030561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9872107	chr3:43030571-43030572	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs141634466	chr3:43030627-43030628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539811165	chr3:43030628-43030629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556292716	chr3:43030639-43030640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570084816	chr3:43030655-43030656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7634125	chr3:43030661-43030662	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs143553556	chr3:43030674-43030675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571894506	chr3:43030680-43030681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182919821	chr3:43030694-43030695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542080502	chr3:43030697-43030698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
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
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	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Breast cancer	21509527	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43021400-43030200	Weak transcription	Aorta	Aorta
2	chr3:43022000-43033000	Weak transcription	Pancreas	Pancrea
3	chr3:43022000-43037000	Weak transcription	Right Atrium	heart
4	chr3:43022200-43032800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:43022800-43030000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:43023000-43037800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr3:43023200-43029600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:43023400-43029600	Weak transcription	Liver	Liver
9	chr3:43026000-43029600	Weak transcription	Ovary	ovary
10	chr3:43026000-43030000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr3:43026600-43030400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr3:43026600-43032000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr3:43026600-43032400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:43026600-43032800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr3:43026800-43029800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:43026800-43030200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:43026800-43032400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:43027000-43029800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr3:43027000-43029800	Weak transcription	Brain Substantia Nigra	brain
20	chr3:43027000-43033200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr3:43027200-43029600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr3:43027200-43029600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr3:43027200-43032800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr3:43027400-43029600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr3:43027400-43029800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:43027400-43032200	Weak transcription	Fetal Thymus	thymus
27	chr3:43029600-43029800	Enhancers	Esophagus	oesophagus
28	chr3:43029600-43030400	Enhancers	H1 Cell Line	embryonic stem cell
29	chr3:43029600-43030400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr3:43029600-43030400	Enhancers	Brain Angular Gyrus	brain
31	chr3:43029600-43030400	Enhancers	Gastric	stomach
32	chr3:43029600-43030400	Enhancers	Ovary	ovary
33	chr3:43029600-43030800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr3:43029600-43030800	Enhancers	Liver	Liver
35	chr3:43029600-43031600	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr3:43029800-43030200	Enhancers	Brain Hippocampus Middle	brain
37	chr3:43029800-43030600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:43029800-43030800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr3:43029800-43030800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:43029800-43030800	Enhancers	Brain Substantia Nigra	brain
41	chr3:43029800-43033200	Weak transcription	Esophagus	oesophagus
42	chr3:43030000-43030400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:43030000-43030400	Enhancers	Adipose Nuclei	Adipose
44	chr3:43030000-43030400	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr3:43030000-43030800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr3:43030000-43032400	Weak transcription	Fetal Muscle Leg	muscle
47	chr3:43030200-43030400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr3:43030200-43030400	Enhancers	Aorta	Aorta
49	chr3:43030200-43030800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr3:43030200-43032000	Weak transcription	Brain Hippocampus Middle	brain

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