Variant report

Variant	nsv513075
Chromosome Location	chr3:134671776-134674683
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:134670207..134673023-chr3:134688821..134691750,2	MCF-7	breast:
2	chr3:134669641..134672133-chr3:134679673..134681914,2	K562	blood:
3	chr3:134667860..134670173-chr3:134674253..134676895,2	K562	blood:

Extended variants
information (count: 107 )
Associated
traits (count: 54 )

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	rs189146932	chr3:134671784-134671785	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575385816	chr3:134671827-134671828	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544305091	chr3:134671859-134671860	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112207277	chr3:134671865-134671866	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9818859	chr3:134671879-134671880	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs540518792	chr3:134671958-134671959	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139399879	chr3:134671968-134671969	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574008019	chr3:134671982-134671983	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542582455	chr3:134671994-134671995	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555462738	chr3:134672015-134672016	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575217730	chr3:134672021-134672022	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73214117	chr3:134672030-134672031	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs557311818	chr3:134672075-134672076	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9856814	chr3:134672084-134672085	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs540143686	chr3:134672165-134672166	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551448790	chr3:134672188-134672189	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565280074	chr3:134672189-134672190	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150054893	chr3:134672195-134672196	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546485407	chr3:134672229-134672230	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367563706	chr3:134672235-134672236	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566727406	chr3:134672282-134672283	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185257	chr3:134672285-134672286	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs549328203	chr3:134672291-134672292	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs59703359	chr3:134672314-134672315	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs537882006	chr3:134672346-134672347	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557831691	chr3:134672378-134672379	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577669007	chr3:134672396-134672397	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534367791	chr3:134672411-134672412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192260	chr3:134672418-134672419	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs74710850	chr3:134672446-134672447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143742932	chr3:134672462-134672463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562881675	chr3:134672494-134672495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576022175	chr3:134672508-134672509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572667841	chr3:134672515-134672516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545075245	chr3:134672525-134672526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542423271	chr3:134672527-134672528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562242678	chr3:134672542-134672543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565338186	chr3:134672658-134672659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146812246	chr3:134672671-134672672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192861274	chr3:134672765-134672766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560370141	chr3:134672864-134672865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61459786	chr3:134672870-134672871	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs58101610	chr3:134672904-134672905	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs569222569	chr3:134672947-134672948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs40152	chr3:134672948-134672949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184677716	chr3:134673010-134673011	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571291410	chr3:134673037-134673038	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs9824682	chr3:134673138-134673139	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs13076995	chr3:134673161-134673162	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142603783	chr3:134673164-134673165	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	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
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134656600-134673000	Weak transcription	GM12878-XiMat	blood
2	chr3:134665000-134676800	Weak transcription	Psoas Muscle	Psoas
3	chr3:134670600-134674200	Weak transcription	Brain Angular Gyrus	brain
4	chr3:134671000-134671800	Strong transcription	Fetal Brain Female	brain
5	chr3:134671000-134672200	Weak transcription	Aorta	Aorta
6	chr3:134671000-134673200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr3:134671000-134674800	Weak transcription	Brain Hippocampus Middle	brain
8	chr3:134671000-134674800	Weak transcription	Right Ventricle	heart
9	chr3:134671000-134675000	Weak transcription	Fetal Muscle Leg	muscle
10	chr3:134671000-134676600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr3:134671000-134677600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:134671000-134677600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr3:134671000-134679400	Weak transcription	Spleen	Spleen
14	chr3:134671000-134682800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:134671000-134684600	Weak transcription	Brain Germinal Matrix	brain
16	chr3:134671000-134693400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr3:134671000-134697400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:134671400-134684400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr3:134671600-134672000	Weak transcription	Brain Anterior Caudate	brain
20	chr3:134671600-134672400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr3:134671600-134673200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:134671800-134672800	Weak transcription	Fetal Brain Female	brain
23	chr3:134672000-134672400	Strong transcription	Brain Anterior Caudate	brain
24	chr3:134672400-134676800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr3:134672400-134677000	Weak transcription	Brain Anterior Caudate	brain
26	chr3:134672800-134673200	Strong transcription	Fetal Brain Female	brain
27	chr3:134673000-134675200	Enhancers	GM12878-XiMat	blood
28	chr3:134673200-134673800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
29	chr3:134673200-134674800	Weak transcription	Fetal Brain Female	brain
30	chr3:134673800-134684600	Weak transcription	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links