Variant report

Variant	nsv460826
Chromosome Location	chr3:116326798-116354825
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:116333340..116334182-chr3:116476544..116477667,3	MCF-7	breast:
2	chr3:116333627..116334309-chr3:116476779..116477665,2	MCF-7	breast:

Extended variants
information (count: 309 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:309 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6767939	chr3:116326798-116326799	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576500018	chr3:116328259-116328260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543830396	chr3:116328271-116328272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562127218	chr3:116328288-116328289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375434051	chr3:116328295-116328296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185022470	chr3:116328299-116328300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs80233809	chr3:116328345-116328346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13094939	chr3:116328422-116328423	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs140939048	chr3:116328423-116328424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552776682	chr3:116328442-116328443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2867827	chr3:116328445-116328446	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs549059096	chr3:116328472-116328473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550240920	chr3:116328520-116328521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568441288	chr3:116328521-116328522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7610672	chr3:116328531-116328532	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs1401077	chr3:116328552-116328553	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs566612643	chr3:116328565-116328566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113368893	chr3:116328570-116328571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533757228	chr3:116328590-116328591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144681820	chr3:116328629-116328630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560402135	chr3:116328644-116328645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576561442	chr3:116328670-116328671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79031524	chr3:116328672-116328673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555931214	chr3:116328721-116328722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189819392	chr3:116328748-116328749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542665354	chr3:116328821-116328822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551457031	chr3:116328854-116328855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571435015	chr3:116328864-116328865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541427799	chr3:116328875-116328876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573952094	chr3:116328891-116328892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572630717	chr3:116328985-116328986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527865603	chr3:116329011-116329012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564662661	chr3:116329032-116329033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75942545	chr3:116329035-116329036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182513113	chr3:116329055-116329056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76383936	chr3:116329126-116329127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543262409	chr3:116329148-116329149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73147375	chr3:116329158-116329159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4349492	chr3:116329160-116329161	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs73859293	chr3:116329184-116329185	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs567816564	chr3:116329213-116329214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373662609	chr3:116329225-116329226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547444859	chr3:116329290-116329291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146333508	chr3:116329292-116329293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139329508	chr3:116329327-116329328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149980563	chr3:116329337-116329338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551992564	chr3:116329341-116329342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145212325	chr3:116329366-116329367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148896975	chr3:116329434-116329435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556232695	chr3:116329457-116329458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:116325600-116326800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:116326600-116326800	Enhancers	Brain Hippocampus Middle	brain
3	chr3:116328200-116328400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:116328400-116329800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:116329800-116330000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:116337000-116337400	Enhancers	HMEC	breast
7	chr3:116337000-116337600	Enhancers	NHEK	skin
8	chr3:116337000-116337800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:116337000-116338000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:116338000-116340600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:116340600-116341000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr3:116340600-116341000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:116340600-116341200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:116352200-116352400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:116352400-116353400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:116353200-116353600	Enhancers	Brain Substantia Nigra	brain
17	chr3:116353400-116354000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:116353400-116354000	Active TSS	Brain Hippocampus Middle	brain
19	chr3:116353400-116354200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr3:116353600-116353800	Active TSS	Brain Cingulate Gyrus	brain
21	chr3:116353600-116354000	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr3:116353600-116354000	Active TSS	Brain Substantia Nigra	brain
23	chr3:116353600-116354200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:116353600-116354200	Active TSS	Brain Anterior Caudate	brain
25	chr3:116353800-116354000	Flanking Active TSS	Brain Cingulate Gyrus	brain

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