Variant report

Variant	nsv523565
Chromosome Location	chr3:145433939-145482086
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 729 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:729 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2673862	chr3:145433939-145433940	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs150805933	chr3:145434032-145434033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73864989	chr3:145434040-145434041	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs543516992	chr3:145434049-145434050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74515330	chr3:145434057-145434058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367554870	chr3:145434060-145434061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527798998	chr3:145434074-145434075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552697211	chr3:145434104-145434105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564323224	chr3:145434105-145434106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73864990	chr3:145434107-145434108	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs550084644	chr3:145434115-145434116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191932356	chr3:145434148-145434149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139766043	chr3:145434149-145434150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76263775	chr3:145434193-145434194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547080003	chr3:145434202-145434203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565294929	chr3:145434245-145434246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374467614	chr3:145434252-145434253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539187713	chr3:145434289-145434290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183745790	chr3:145434326-145434327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141463935	chr3:145434351-145434352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116736309	chr3:145434359-145434360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73864991	chr3:145434369-145434370	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs73864992	chr3:145434378-145434379	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs188117279	chr3:145434459-145434460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376584592	chr3:145434480-145434481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147670695	chr3:145434487-145434488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375317372	chr3:145434527-145434528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533481793	chr3:145434530-145434531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142317405	chr3:145434544-145434545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116141157	chr3:145434568-145434569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73864993	chr3:145434601-145434602	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs564556040	chr3:145434609-145434610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374574892	chr3:145434641-145434642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73864994	chr3:145434642-145434643	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs77872644	chr3:145434644-145434645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114948635	chr3:145434670-145434671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548765551	chr3:145434681-145434682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs61468430	chr3:145434739-145434740	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs552571927	chr3:145434762-145434763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534600055	chr3:145434850-145434851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142697296	chr3:145434886-145434887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529182719	chr3:145434895-145434896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs180885189	chr3:145434930-145434931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187061904	chr3:145434931-145434932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149804458	chr3:145434974-145434975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34157137	chr3:145434988-145434989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531898901	chr3:145435017-145435018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569426103	chr3:145435049-145435050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549935490	chr3:145435113-145435114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568320393	chr3:145435126-145435127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Bipolar disorder	19114987	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145430000-145437400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:145432200-145434000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:145432200-145434000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:145433000-145434000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:145434000-145434200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr3:145434000-145434800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:145434000-145434800	Enhancers	NHDF-Ad	bronchial
8	chr3:145434000-145435400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:145434000-145435400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:145434200-145436800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr3:145435400-145436800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:145435400-145437000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:145436600-145437800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:145436600-145437800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:145436800-145437000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr3:145436800-145437000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr3:145436800-145437400	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr3:145436800-145437400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:145436800-145437400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr3:145436800-145437600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr3:145436800-145437800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr3:145436800-145437800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr3:145436800-145437800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr3:145436800-145437800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr3:145437000-145437400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr3:145437000-145437400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:145437000-145437600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr3:145437400-145437800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr3:145437400-145437800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr3:145437400-145437800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:145437600-145437800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr3:145437800-145439200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr3:145437800-145439200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr3:145437800-145439200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr3:145437800-145439400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr3:145437800-145439400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr3:145437800-145439400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:145437800-145439600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr3:145439200-145439600	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr3:145439200-145439600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr3:145439200-145440000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr3:145439200-145440000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr3:145439400-145439600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr3:145439400-145439800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr3:145439400-145439800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr3:145439400-145440200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:145439600-145440000	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr3:145440200-145443200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr3:145445200-145445800	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr3:145453200-145453800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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