Variant report

Variant	nsv818168
Chromosome Location	chr3:134733516-134736671
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs40347	chr3:134733516-134733517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139054752	chr3:134733574-134733575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571282076	chr3:134733579-134733580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35629413	chr3:134733599-134733600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186964003	chr3:134733600-134733601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113015967	chr3:134733601-134733602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144873370	chr3:134733682-134733683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533950151	chr3:134733691-134733692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149064660	chr3:134733712-134733713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562396357	chr3:134733740-134733741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558654009	chr3:134733752-134733753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143218831	chr3:134733762-134733763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368308700	chr3:134733879-134733880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11720128	chr3:134733904-134733905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
15	rs55912160	chr3:134733937-134733938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534473393	chr3:134733943-134733944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34621495	chr3:134733950-134733951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190512206	chr3:134733955-134733956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567977308	chr3:134733973-134733974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182414416	chr3:134733992-134733993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556525662	chr3:134733994-134733995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576459990	chr3:134734059-134734060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs74940587	chr3:134734074-134734075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557506381	chr3:134734076-134734077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577385645	chr3:134734088-134734089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112128820	chr3:134734089-134734090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs59675045	chr3:134734100-134734101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34497034	chr3:134734118-134734119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146619324	chr3:134734142-134734143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141349441	chr3:134734173-134734174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368546920	chr3:134734185-134734186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145179303	chr3:134734206-134734207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185561282	chr3:134734220-134734221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562544221	chr3:134734230-134734231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531289449	chr3:134734239-134734240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545153122	chr3:134734264-134734265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564994366	chr3:134734272-134734273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560869171	chr3:134734309-134734310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371439752	chr3:134734347-134734348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34199544	chr3:134734397-134734398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527854716	chr3:134734406-134734407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189633705	chr3:134734452-134734453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182714389	chr3:134734473-134734474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530474000	chr3:134734549-134734550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112369480	chr3:134734552-134734553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113094511	chr3:134734608-134734609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375722967	chr3:134734615-134734616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189023904	chr3:134734669-134734670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543752464	chr3:134734688-134734689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558590273	chr3:134734765-134734766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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	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
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Cancer	20164919	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134728000-134742000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:134729000-134735200	Weak transcription	Fetal Brain Female	brain
3	chr3:134730800-134735400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:134733400-134733600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr3:134733600-134737000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr3:134733800-134734000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:134734000-134735000	Enhancers	Liver	Liver
8	chr3:134734200-134737200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:134734400-134734600	Enhancers	Esophagus	oesophagus
10	chr3:134735200-134736200	Enhancers	Fetal Brain Female	brain
11	chr3:134735400-134735600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:134735400-134736200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr3:134735600-134736400	Enhancers	Brain Germinal Matrix	brain
14	chr3:134736000-134738200	Enhancers	GM12878-XiMat	blood
15	chr3:134736200-134737800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr3:134736400-134738200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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