Variant report

Variant	nsv441830
Chromosome Location	chr3:81909338-81923746
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 455 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:455 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181263330	chr3:81909382-81909383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571271639	chr3:81909394-81909395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185522758	chr3:81909398-81909399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548023201	chr3:81909404-81909405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188327120	chr3:81909446-81909447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567804343	chr3:81909512-81909513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34803227	chr3:81909527-81909528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs5850539	chr3:81909529-81909530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs36077704	chr3:81909530-81909531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113428434	chr3:81909531-81909532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs33999535	chr3:81909551-81909552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536837290	chr3:81909578-81909579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556014905	chr3:81909589-81909590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569790468	chr3:81909733-81909734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs180738670	chr3:81909751-81909752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558597564	chr3:81909752-81909753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572026719	chr3:81909819-81909820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367691652	chr3:81909829-81909830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541015833	chr3:81909884-81909885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554836700	chr3:81909980-81909981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574577920	chr3:81910003-81910004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543579758	chr3:81910026-81910027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187565467	chr3:81910053-81910054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549305668	chr3:81910171-81910172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11711024	chr3:81910207-81910208	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs564940419	chr3:81910218-81910219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527675042	chr3:81910246-81910247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373892104	chr3:81910336-81910337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547810877	chr3:81910387-81910388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35637913	chr3:81910415-81910416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567926099	chr3:81910444-81910445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76503889	chr3:81910451-81910452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550365896	chr3:81910470-81910471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7641973	chr3:81910489-81910490	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs191902981	chr3:81910508-81910509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375904455	chr3:81910550-81910551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369048032	chr3:81910606-81910607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534592925	chr3:81910626-81910627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537017767	chr3:81910686-81910687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577872849	chr3:81910755-81910756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372549157	chr3:81910764-81910765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554592430	chr3:81910777-81910778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574696564	chr3:81910868-81910869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564878367	chr3:81910895-81910896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116802238	chr3:81910923-81910924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375942553	chr3:81911025-81911026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576581686	chr3:81911026-81911027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114799372	chr3:81911033-81911034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533155351	chr3:81911036-81911037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565028544	chr3:81911103-81911104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81907200-81910000	Weak transcription	Fetal Heart	heart
2	chr3:81908800-81909800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:81909000-81913000	Weak transcription	Fetal Lung	lung
4	chr3:81909200-81909600	Enhancers	HUVEC	blood vessel
5	chr3:81909400-81909800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:81909600-81912800	Weak transcription	HUVEC	blood vessel
7	chr3:81909800-81910200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr3:81909800-81910400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:81910000-81911000	Enhancers	Fetal Heart	heart
10	chr3:81910200-81910400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr3:81910400-81913000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:81910400-81915000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:81911000-81913000	Weak transcription	Fetal Heart	heart
14	chr3:81911000-81914200	Enhancers	Dnd41	blood
15	chr3:81911400-81911600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr3:81911800-81913000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr3:81912200-81913800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr3:81912600-81913800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr3:81912800-81913200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr3:81912800-81913600	Enhancers	HUVEC	blood vessel
21	chr3:81912800-81913600	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr3:81913000-81913600	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr3:81913000-81913800	Enhancers	Fetal Heart	heart
24	chr3:81913000-81914000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr3:81913000-81914000	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr3:81913000-81914000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr3:81913000-81914000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr3:81913000-81914000	Enhancers	Fetal Lung	lung
29	chr3:81913000-81914800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:81913200-81913400	Enhancers	Rectal Smooth Muscle	rectum
31	chr3:81913200-81913600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:81913200-81914000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr3:81913200-81914000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr3:81913400-81913600	Active TSS	Left Ventricle	heart
35	chr3:81913400-81913600	Enhancers	Right Ventricle	heart
36	chr3:81913400-81913800	Enhancers	H1 Cell Line	embryonic stem cell
37	chr3:81913400-81913800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:81913400-81913800	Enhancers	Fetal Stomach	stomach
39	chr3:81913400-81913800	Enhancers	Placenta Amnion	Placenta Amnion
40	chr3:81913400-81913800	Active TSS	Rectal Smooth Muscle	rectum
41	chr3:81913400-81913800	Active TSS	Right Atrium	heart
42	chr3:81913400-81913800	Active TSS	Stomach Smooth Muscle	stomach
43	chr3:81913400-81914000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr3:81913400-81914000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr3:81913400-81914000	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr3:81913400-81914000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr3:81913400-81914000	Enhancers	Colon Smooth Muscle	Colon
48	chr3:81913600-81913800	Flanking Active TSS	Left Ventricle	heart
49	chr3:81913600-81914000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr3:81913600-81914000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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