Variant report

Variant	nsv980074
Chromosome Location	chr3:146501991-146511951
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558321595	chr3:146502020-146502021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139677031	chr3:146502044-146502045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150043483	chr3:146502076-146502077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369653398	chr3:146502096-146502097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563943479	chr3:146502100-146502101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372300043	chr3:146502140-146502141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs180922431	chr3:146502143-146502144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543340454	chr3:146502196-146502197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6440460	chr3:146502204-146502205	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs570466612	chr3:146502223-146502224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145511484	chr3:146502281-146502282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184886647	chr3:146502306-146502307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532935027	chr3:146502311-146502312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549583436	chr3:146502317-146502318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569869488	chr3:146502335-146502336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535367480	chr3:146502375-146502376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369137131	chr3:146502393-146502394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148439617	chr3:146502395-146502396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537746550	chr3:146502423-146502424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565923276	chr3:146502466-146502467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535024899	chr3:146502490-146502491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558233919	chr3:146502500-146502501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs578158081	chr3:146502504-146502505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1549838	chr3:146502518-146502519	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs557573055	chr3:146502521-146502522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574204583	chr3:146502529-146502530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542943087	chr3:146502530-146502531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560005185	chr3:146502619-146502620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527247074	chr3:146502620-146502621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540647853	chr3:146502635-146502636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568369496	chr3:146502673-146502674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563806966	chr3:146502715-146502716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532850646	chr3:146502781-146502782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549495816	chr3:146502787-146502788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114116591	chr3:146502795-146502796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189684678	chr3:146502857-146502858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369370037	chr3:146502932-146502933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565965746	chr3:146502954-146502955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534985916	chr3:146502978-146502979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78802825	chr3:146503034-146503035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571701348	chr3:146503052-146503053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375717905	chr3:146503063-146503064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576120102	chr3:146503094-146503095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557475091	chr3:146503141-146503142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs3843364	chr3:146503157-146503158	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs144276067	chr3:146503188-146503189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536857458	chr3:146503219-146503220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs59610515	chr3:146503220-146503221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553363616	chr3:146503229-146503230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573497449	chr3:146503230-146503231	Enhancers 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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146499200-146503400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:146499600-146502800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr3:146500600-146502000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr3:146501200-146502000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:146501400-146503400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr3:146501600-146502000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:146501600-146502600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr3:146502600-146504200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr3:146502800-146503600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr3:146503200-146503800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:146503200-146503800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr3:146503400-146504000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr3:146505800-146506400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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