Variant report

Variant	esv3411515
Chromosome Location	chr3:115882712-115884760
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549315827	chr3:115882714-115882715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199877111	chr3:115882723-115882724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs180914388	chr3:115882725-115882726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186335842	chr3:115882728-115882729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540119960	chr3:115882733-115882734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554222292	chr3:115882750-115882751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191196556	chr3:115882755-115882756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181598109	chr3:115882767-115882768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537287597	chr3:115882794-115882795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555937605	chr3:115882834-115882835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199966990	chr3:115882866-115882867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201247145	chr3:115882867-115882868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs202219666	chr3:115882868-115882869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369045851	chr3:115882869-115882870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79953806	chr3:115882870-115882871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs397802512	chr3:115882871-115882872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549985730	chr3:115882968-115882969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571296015	chr3:115883037-115883038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144129773	chr3:115883043-115883044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs17642447	chr3:115883065-115883066	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs545672448	chr3:115883074-115883075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186059093	chr3:115883079-115883080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531527330	chr3:115883100-115883101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373143978	chr3:115883109-115883110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549659914	chr3:115883181-115883182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77389103	chr3:115883195-115883196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs9812548	chr3:115883224-115883225	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs371918370	chr3:115883263-115883264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547547379	chr3:115883271-115883272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190774798	chr3:115883279-115883280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539485706	chr3:115883303-115883304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576743732	chr3:115883319-115883320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570213878	chr3:115883340-115883341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201749997	chr3:115883420-115883421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376686584	chr3:115883449-115883450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs36047780	chr3:115883468-115883469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs13083201	chr3:115883469-115883470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs28725472	chr3:115883470-115883471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369789482	chr3:115883475-115883476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535579467	chr3:115883476-115883477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs13063427	chr3:115883491-115883492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs28673788	chr3:115883530-115883531	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs113608501	chr3:115883546-115883547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs28691611	chr3:115883550-115883551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183306592	chr3:115883564-115883565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376580803	chr3:115883607-115883608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201945854	chr3:115883609-115883610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368989645	chr3:115883611-115883612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200458718	chr3:115883612-115883613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574194175	chr3:115883627-115883628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Ovarian cancer	22174824	CNVD
Ductal carcinoma	22052326	CNVD
Myelofibrosis	22110671	CNVD
Characteristic facial feature	22180640	CNVD
hypoplastic male genitals	22180640	CNVD
postnatal overgrowth	22180640	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:115880400-115884000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr3:115881000-115883000	Weak transcription	Brain Angular Gyrus	brain
3	chr3:115881000-115889600	Weak transcription	Colon Smooth Muscle	Colon
4	chr3:115881200-115884000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr3:115881400-115883000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:115881400-115883000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:115881400-115883000	Weak transcription	Brain Substantia Nigra	brain
8	chr3:115881400-115884000	Weak transcription	Brain Hippocampus Middle	brain
9	chr3:115881600-115884000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr3:115881600-115891800	Weak transcription	Fetal Brain Male	brain
11	chr3:115881800-115883000	Weak transcription	Brain Anterior Caudate	brain
12	chr3:115881800-115883000	Weak transcription	Fetal Lung	lung
13	chr3:115882000-115883800	Weak transcription	Brain Germinal Matrix	brain
14	chr3:115883000-115883200	Enhancers	Brain Angular Gyrus	brain
15	chr3:115883000-115883200	Enhancers	Brain Anterior Caudate	brain
16	chr3:115883000-115883200	Enhancers	Brain Cingulate Gyrus	brain
17	chr3:115883000-115883200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr3:115883000-115883200	Enhancers	Fetal Lung	lung
19	chr3:115883000-115885600	Enhancers	Brain Substantia Nigra	brain
20	chr3:115883200-115883600	Weak transcription	Brain Angular Gyrus	brain
21	chr3:115883200-115883600	Weak transcription	Brain Anterior Caudate	brain
22	chr3:115883200-115883600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr3:115883200-115883600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr3:115883200-115883600	Weak transcription	Fetal Lung	lung
25	chr3:115883600-115884800	Enhancers	Fetal Lung	lung
26	chr3:115883600-115885400	Enhancers	Brain Angular Gyrus	brain
27	chr3:115883600-115885400	Enhancers	Brain Anterior Caudate	brain
28	chr3:115883600-115885400	Enhancers	Brain Cingulate Gyrus	brain
29	chr3:115883600-115885400	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr3:115883800-115884200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr3:115883800-115884400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr3:115883800-115884600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr3:115883800-115885000	Enhancers	Brain Germinal Matrix	brain
34	chr3:115883800-115885400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr3:115884000-115884400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr3:115884000-115884600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr3:115884000-115884600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr3:115884000-115884600	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr3:115884000-115884800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:115884000-115885000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:115884000-115885200	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr3:115884000-115885400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr3:115884000-115885400	Enhancers	Brain Hippocampus Middle	brain
44	chr3:115884000-115885400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr3:115884400-115886800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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