Variant report

Variant	nsv822308
Chromosome Location	chr3:160378594-160381820
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:160379485..160381403-chr3:160384390..160388251,3	K562	blood:
2	chr3:160377138..160379638-chr3:160382685..160384289,2	K562	blood:
3	chr3:160378138..160380305-chr3:160382789..160386961,3	K562	blood:

Extended variants
information (count: 113 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558563967	chr3:160378595-160378596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565911185	chr3:160378630-160378631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200785555	chr3:160378642-160378643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10936207	chr3:160378643-160378644	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs10936208	chr3:160378648-160378649	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs540672761	chr3:160378667-160378668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188032916	chr3:160378687-160378688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557613648	chr3:160378718-160378719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577434115	chr3:160378739-160378740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs16831329	chr3:160378752-160378753	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs553657836	chr3:160378806-160378807	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139782880	chr3:160378817-160378818	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540666186	chr3:160378876-160378877	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560609851	chr3:160378887-160378888	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149785568	chr3:160378911-160378912	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574585604	chr3:160378912-160378913	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538035697	chr3:160378923-160378924	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563322128	chr3:160378978-160378979	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114714584	chr3:160379008-160379009	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs386667602	chr3:160379024-160379025	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10936209	chr3:160379025-160379026	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs550883917	chr3:160379035-160379036	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs16831330	chr3:160379047-160379048	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568541964	chr3:160379062-160379063	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537562031	chr3:160379139-160379140	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562871011	chr3:160379218-160379219	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139504080	chr3:160379273-160379274	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74993712	chr3:160379324-160379325	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530313989	chr3:160379356-160379357	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548547513	chr3:160379428-160379429	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs193026333	chr3:160379438-160379439	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557801540	chr3:160379439-160379440	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62272220	chr3:160379441-160379442	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs552216985	chr3:160379467-160379468	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573491154	chr3:160379545-160379546	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534290463	chr3:160379572-160379573	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554157619	chr3:160379577-160379578	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185177639	chr3:160379610-160379611	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570376309	chr3:160379655-160379656	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4679910	chr3:160379672-160379673	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs563441486	chr3:160379762-160379763	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562560268	chr3:160379763-160379764	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576952050	chr3:160379805-160379806	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs189115814	chr3:160379817-160379818	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs79799422	chr3:160379845-160379846	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs75406376	chr3:160379850-160379851	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs375524667	chr3:160379852-160379853	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs531568306	chr3:160379866-160379867	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs146749938	chr3:160379926-160379927	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs111734741	chr3:160379933-160379934	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Effusion lymphoma	18079361	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Intellectual disability	21811512	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160372600-160385200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr3:160378600-160379000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:160378600-160381000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:160378800-160379200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:160378800-160379200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:160378800-160379200	Enhancers	Hela-S3	cervix
7	chr3:160378800-160379600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr3:160378800-160379800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr3:160378800-160379800	Enhancers	Fetal Thymus	thymus
10	chr3:160378800-160380200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:160378800-160380400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:160379000-160379200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:160379000-160379600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr3:160379200-160379400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:160379200-160382400	Weak transcription	Hela-S3	cervix
16	chr3:160379200-160383800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:160379400-160379600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:160379400-160379600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:160379400-160379800	Enhancers	Thymus	Thymus
20	chr3:160379400-160379800	Enhancers	Dnd41	blood
21	chr3:160379400-160379800	Enhancers	GM12878-XiMat	blood
22	chr3:160379600-160381000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:160379600-160383400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr3:160379800-160382200	Weak transcription	GM12878-XiMat	blood
25	chr3:160379800-160382400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:160379800-160382800	Weak transcription	Fetal Thymus	thymus
27	chr3:160379800-160383000	Weak transcription	Dnd41	blood
28	chr3:160379800-160383600	Weak transcription	Thymus	Thymus
29	chr3:160381000-160383200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr3:160381000-160383600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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