Variant report

Variant	nsv1011893
Chromosome Location	chr3:146090110-146125010
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:146100063..146100757-chr3:146220788..146221766,2	MCF-7	breast:
2	chr3:146090461..146092431-chr3:146097019..146099426,2	MCF-7	breast:
3	chr3:146090461..146092431-chr3:146097019..146099426,2	MCF-7	breast:
4	chr3:146044568..146045746-chr3:146099870..146100750,3	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLSCR2-1	chr3:146116444-146116610	NONHSAT092557
2	lnc-PLSCR2-1	chr3:146113527-146113702	NONHSAT092557
3	lnc-PLSCR2-1	chr3:146113547-146113708	NONHSAT092556
4	lnc-PLSCR2-1	chr3:146119142-146119363	NONHSAT092557
5	lnc-PLSCR2-1	chr3:146109150-146109349	NONHSAT092556
6	lnc-PLSCR2-1	chr3:146119147-146119346	NONHSAT092556

No data

Extended variants
information (count: 1272 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1272 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2867867	chr3:146090110-146090111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs76946690	chr3:146090185-146090186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375240207	chr3:146090259-146090260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116207249	chr3:146090265-146090266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189704611	chr3:146090285-146090286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192352958	chr3:146090293-146090294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184252342	chr3:146090314-146090315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142646309	chr3:146090334-146090335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373669338	chr3:146090343-146090344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146660519	chr3:146090354-146090355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113608848	chr3:146090401-146090402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376659573	chr3:146090439-146090440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543175840	chr3:146090458-146090459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561789738	chr3:146090486-146090487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573640249	chr3:146090488-146090489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76221502	chr3:146090494-146090495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559085395	chr3:146090506-146090507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116657826	chr3:146090586-146090587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528034829	chr3:146090589-146090590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367569197	chr3:146090630-146090631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147928567	chr3:146090635-146090636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577486656	chr3:146090655-146090656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372308549	chr3:146090659-146090660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73867570	chr3:146090749-146090750	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs550020024	chr3:146090752-146090753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568574256	chr3:146090753-146090754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140572443	chr3:146090792-146090793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547817309	chr3:146090804-146090805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189149594	chr3:146090805-146090806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539352201	chr3:146090812-146090813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111691343	chr3:146090826-146090827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575849714	chr3:146090848-146090849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74929729	chr3:146090858-146090859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73867571	chr3:146090917-146090918	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs138519953	chr3:146090938-146090939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369610032	chr3:146090953-146090954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545743701	chr3:146090971-146090972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559403234	chr3:146091020-146091021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113780978	chr3:146091021-146091022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372329212	chr3:146091071-146091072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549265210	chr3:146091099-146091100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564734065	chr3:146091104-146091105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149237352	chr3:146091185-146091186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145260760	chr3:146091197-146091198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1912895	chr3:146091222-146091223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567649504	chr3:146091234-146091235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529429946	chr3:146091294-146091295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547534218	chr3:146091348-146091349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565758432	chr3:146091363-146091364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533121905	chr3:146091386-146091387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146087200-146090400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:146089400-146092400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:146090400-146091800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:146090600-146093000	Enhancers	Fetal Lung	lung
5	chr3:146090800-146091200	Enhancers	Ovary	ovary
6	chr3:146090800-146093200	Enhancers	Fetal Stomach	stomach
7	chr3:146091000-146091200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:146091200-146092400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr3:146091200-146092600	Weak transcription	Ovary	ovary
10	chr3:146091600-146093200	Enhancers	HSMMtube	muscle
11	chr3:146091600-146094800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:146091800-146092800	Enhancers	Colon Smooth Muscle	Colon
13	chr3:146091800-146092800	Enhancers	A549	lung
14	chr3:146091800-146093200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:146092000-146092400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:146092000-146094000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr3:146092400-146092800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:146092400-146093000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:146092400-146093200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:146092600-146093000	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr3:146092600-146093200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:146092600-146093200	Enhancers	Ovary	ovary
23	chr3:146092800-146093000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:146092800-146093000	Enhancers	Osteobl	bone
25	chr3:146092800-146093200	Enhancers	Brain Germinal Matrix	brain
26	chr3:146092800-146093200	Enhancers	Left Ventricle	heart
27	chr3:146092800-146093200	Enhancers	Psoas Muscle	Psoas
28	chr3:146092800-146093200	Enhancers	NHDF-Ad	bronchial
29	chr3:146092800-146093400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:146093000-146093800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:146093000-146098400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr3:146093000-146104800	Weak transcription	Fetal Lung	lung
33	chr3:146093200-146095800	Weak transcription	Ovary	ovary
34	chr3:146093800-146094600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:146095800-146096000	Enhancers	Ovary	ovary
36	chr3:146097600-146098800	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr3:146097800-146098600	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr3:146097800-146099000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
39	chr3:146098400-146098800	Enhancers	Colonic Mucosa	Colon
40	chr3:146098400-146098800	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr3:146099000-146100600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr3:146100400-146101200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr3:146100400-146101600	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr3:146100600-146100800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr3:146100600-146101000	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr3:146100600-146101200	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr3:146100600-146101200	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr3:146100800-146101600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr3:146100800-146112600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr3:146101200-146101600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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