Variant report

Variant	nsv591937
Chromosome Location	chr3:146375764-146390316
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 136 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9852256	chr3:146375764-146375765	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375953472	chr3:146375829-146375830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111687488	chr3:146375858-146375859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532056115	chr3:146375878-146375879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73867459	chr3:146375894-146375895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116584062	chr3:146375902-146375903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34414421	chr3:146375918-146375919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577453848	chr3:146375971-146375972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78987987	chr3:146375979-146375980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75458657	chr3:146375992-146375993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79528617	chr3:146376005-146376006	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191446944	chr3:146376012-146376013	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560606207	chr3:146376022-146376023	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148197857	chr3:146376123-146376124	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527711770	chr3:146376208-146376209	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs141320660	chr3:146376243-146376244	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs562460292	chr3:146376244-146376245	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs199885734	chr3:146376248-146376249	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs62275410	chr3:146376267-146376268	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs570695068	chr3:146376290-146376291	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs555154274	chr3:146376291-146376292	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs34714493	chr3:146376308-146376309	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs550053302	chr3:146376324-146376325	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs182773620	chr3:146376332-146376333	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs188243542	chr3:146376333-146376334	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs191433914	chr3:146376400-146376401	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs79015503	chr3:146376412-146376413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6762490	chr3:146376451-146376452	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs557727574	chr3:146376458-146376459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4402903	chr3:146376470-146376471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575899325	chr3:146376473-146376474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544510312	chr3:146376480-146376481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542732542	chr3:146376492-146376493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561466695	chr3:146376509-146376510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1858326	chr3:146376541-146376542	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs574711585	chr3:146376564-146376565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73159165	chr3:146376583-146376584	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs560415472	chr3:146376611-146376612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs28539305	chr3:146376650-146376651	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs545923310	chr3:146376664-146376665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564508553	chr3:146376687-146376688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372760806	chr3:146376695-146376696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550116038	chr3:146376700-146376701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532623493	chr3:146376721-146376722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs367685228	chr3:146376730-146376731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571693632	chr3:146376732-146376733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375978856	chr3:146376755-146376756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568335505	chr3:146376756-146376757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529132191	chr3:146376758-146376759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536620068	chr3:146377016-146377017	Weak transcription	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
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
Basal cell lymphoma	21115979	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146373400-146376200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:146375400-146376400	Enhancers	Ovary	ovary
3	chr3:146375600-146376400	Enhancers	Dnd41	blood
4	chr3:146375600-146376800	Enhancers	HepG2	liver
5	chr3:146376000-146376400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:146376000-146376800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:146376200-146376400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:146376200-146376600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:146377000-146377400	Weak transcription	Dnd41	blood
10	chr3:146377600-146378600	Enhancers	Dnd41	blood
11	chr3:146382000-146382400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr3:146386800-146387400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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