Variant report

Variant	nsv980071
Chromosome Location	chr3:116123057-116126078
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562493249	chr3:116123118-116123119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559278775	chr3:116123151-116123152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72951922	chr3:116123166-116123167	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs552048927	chr3:116123201-116123202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375890482	chr3:116123239-116123240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376698018	chr3:116123270-116123271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569920108	chr3:116123281-116123282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13077535	chr3:116123305-116123306	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs549083088	chr3:116123351-116123352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184616813	chr3:116123384-116123385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117191729	chr3:116123394-116123395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs80213218	chr3:116123420-116123421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373187617	chr3:116123462-116123463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144070306	chr3:116123481-116123482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571609579	chr3:116123493-116123494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539394771	chr3:116123529-116123530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558035246	chr3:116123568-116123569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189430575	chr3:116123588-116123589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566004605	chr3:116123608-116123609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181264970	chr3:116123651-116123652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573808346	chr3:116123653-116123654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150958791	chr3:116123666-116123667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559125519	chr3:116123683-116123684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139496581	chr3:116123789-116123790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534791081	chr3:116123790-116123791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1920188	chr3:116123825-116123826	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs149830355	chr3:116123863-116123864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549195619	chr3:116123872-116123873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561133082	chr3:116123895-116123896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78761533	chr3:116123904-116123905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528621673	chr3:116123907-116123908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145800689	chr3:116123940-116123941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571552182	chr3:116123967-116123968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112822015	chr3:116123995-116123996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185677416	chr3:116124013-116124014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571073278	chr3:116124050-116124051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76146648	chr3:116124060-116124061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1920187	chr3:116124088-116124089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537319962	chr3:116124090-116124091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555634667	chr3:116124173-116124174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573770170	chr3:116124216-116124217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534422289	chr3:116124263-116124264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190530561	chr3:116124366-116124367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181663541	chr3:116124367-116124368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73861676	chr3:116124381-116124382	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs377305960	chr3:116124401-116124402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533530391	chr3:116124434-116124435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544962879	chr3:116124497-116124498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200875366	chr3:116124519-116124520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187163695	chr3:116124538-116124539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:116103000-116142000	Weak transcription	Fetal Lung	lung
2	chr3:116112600-116132800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr3:116113800-116127600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:116117600-116124000	Weak transcription	Brain Germinal Matrix	brain
5	chr3:116118600-116128800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:116118800-116123800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:116119000-116123800	Weak transcription	Brain Substantia Nigra	brain
8	chr3:116119200-116123800	Weak transcription	Brain Anterior Caudate	brain
9	chr3:116119800-116133600	Weak transcription	Brain Hippocampus Middle	brain
10	chr3:116120400-116126000	Weak transcription	Brain Angular Gyrus	brain
11	chr3:116122000-116127200	Weak transcription	Colon Smooth Muscle	Colon
12	chr3:116123800-116124400	Enhancers	Brain Anterior Caudate	brain
13	chr3:116123800-116124600	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr3:116123800-116124800	Enhancers	Brain Substantia Nigra	brain
15	chr3:116124000-116124400	Enhancers	Brain Germinal Matrix	brain
16	chr3:116124400-116129200	Weak transcription	Brain Anterior Caudate	brain
17	chr3:116124600-116125000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr3:116124600-116125200	Enhancers	Rectal Smooth Muscle	rectum
19	chr3:116124600-116133600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr3:116124800-116127600	Weak transcription	Brain Substantia Nigra	brain
21	chr3:116125200-116128800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr3:116126000-116126600	Enhancers	Brain Angular Gyrus	brain

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