Variant report

Variant	nsv877105
Chromosome Location	chr3:85653433-85697614
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:85691376..85694166-chr3:85695879..85697418,2	K562	blood:
2	chr16:62102334..62103232-chr3:85670335..85671139,2	MCF-7	breast:
3	chr3:85691376..85694166-chr3:85695879..85697418,2	K562	blood:
4	chr3:85657188..85659401-chr3:85663146..85665310,2	MCF-7	breast:
5	chr3:85689296..85692115-chr3:85697978..85700192,2	K562	blood:
6	chr3:85657188..85659401-chr3:85663146..85665310,2	MCF-7	breast:

Extended variants
information (count: 510 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:510 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10511074	chr3:85653433-85653434	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548622996	chr3:85653442-85653443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10511073	chr3:85653460-85653461	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs113709521	chr3:85653468-85653469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369042905	chr3:85653469-85653470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12714631	chr3:85653529-85653530	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs545699524	chr3:85653561-85653562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183220093	chr3:85653571-85653572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531247747	chr3:85653604-85653605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181059177	chr3:85653629-85653630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561338564	chr3:85653687-85653688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148911708	chr3:85653689-85653690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116308720	chr3:85653711-85653712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565724789	chr3:85653720-85653721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539278827	chr3:85653845-85653846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551180927	chr3:85653856-85653857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569577836	chr3:85653862-85653863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536955191	chr3:85653921-85653922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555014440	chr3:85653951-85653952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573627092	chr3:85653996-85653997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186969715	chr3:85654011-85654012	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553065681	chr3:85654021-85654022	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs578094373	chr3:85654025-85654026	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143590793	chr3:85654040-85654041	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192276782	chr3:85654046-85654047	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575962954	chr3:85654110-85654111	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138132351	chr3:85654138-85654139	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185015347	chr3:85654154-85654155	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561118390	chr3:85654156-85654157	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528522798	chr3:85654159-85654160	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374335438	chr3:85654170-85654171	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142131202	chr3:85654186-85654187	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17023065	chr3:85654213-85654214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551117265	chr3:85654245-85654246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569516400	chr3:85654260-85654261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536942905	chr3:85654271-85654272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577869841	chr3:85654304-85654305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547626951	chr3:85654314-85654315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567134449	chr3:85654316-85654317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368749667	chr3:85654317-85654318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570611126	chr3:85654318-85654319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62263914	chr3:85654340-85654341	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs556508934	chr3:85654396-85654397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552716778	chr3:85654462-85654463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577771943	chr3:85654497-85654498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377165684	chr3:85654506-85654507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538740353	chr3:85654514-85654515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189479258	chr3:85654523-85654524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535691110	chr3:85654525-85654526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575951286	chr3:85654539-85654540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85652800-85654000	Weak transcription	Brain Substantia Nigra	brain
2	chr3:85653400-85654000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:85653400-85654000	Enhancers	Brain Anterior Caudate	brain
4	chr3:85654000-85654200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:85654000-85654200	Enhancers	Brain Substantia Nigra	brain
6	chr3:85654200-85654600	Weak transcription	Brain Substantia Nigra	brain
7	chr3:85654600-85655000	Enhancers	Brain Substantia Nigra	brain
8	chr3:85657800-85658000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr3:85666200-85666600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:85671200-85671400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:85671600-85672200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:85671600-85672600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:85672600-85674600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:85674600-85674800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:85674800-85675400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:85675200-85676000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr3:85675400-85676000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:85675400-85677200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:85675400-85677400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr3:85675400-85677400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr3:85675400-85677400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr3:85675800-85676600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr3:85675800-85676800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr3:85675800-85677400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr3:85676000-85676400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr3:85676000-85676600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr3:85676000-85677000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:85676400-85677400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr3:85676600-85677000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr3:85676800-85677400	Enhancers	H1 Cell Line	embryonic stem cell
31	chr3:85677000-85677200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:85677000-85677400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr3:85677800-85680400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:85687000-85687400	Enhancers	Brain Germinal Matrix	brain
35	chr3:85695200-85695400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr3:85695400-85708800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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