Variant report

Variant	nsv519439
Chromosome Location	chr3:67450571-67452043
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1552627	chr3:67450571-67450572	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149029599	chr3:67450595-67450596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553277783	chr3:67450618-67450619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112604433	chr3:67450625-67450626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1552628	chr3:67450626-67450627	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs566492215	chr3:67450629-67450630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534623611	chr3:67450631-67450632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115249631	chr3:67450649-67450650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577843786	chr3:67450651-67450652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1552629	chr3:67450670-67450671	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs572422118	chr3:67450672-67450673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534671462	chr3:67450679-67450680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558237094	chr3:67450681-67450682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148792336	chr3:67450690-67450691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192930674	chr3:67450701-67450702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114747113	chr3:67450716-67450717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559407583	chr3:67450718-67450719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528065859	chr3:67450720-67450721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149604280	chr3:67450729-67450730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79872266	chr3:67450744-67450745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200419030	chr3:67450752-67450753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142411623	chr3:67450753-67450754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369505826	chr3:67450756-67450757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116197275	chr3:67450794-67450795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184758631	chr3:67450811-67450812	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs151292492	chr3:67450901-67450902	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189573646	chr3:67450913-67450914	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76322136	chr3:67450914-67450915	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566603761	chr3:67450919-67450920	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563360184	chr3:67450957-67450958	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140906289	chr3:67450987-67450988	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113559159	chr3:67451008-67451009	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558670565	chr3:67451015-67451016	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374967417	chr3:67451020-67451021	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs68010988	chr3:67451037-67451038	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs557129453	chr3:67451049-67451050	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374285525	chr3:67451058-67451059	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146692260	chr3:67451063-67451064	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553124171	chr3:67451064-67451065	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201609915	chr3:67451097-67451098	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572937968	chr3:67451105-67451106	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368259008	chr3:67451115-67451116	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372425092	chr3:67451131-67451132	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544995840	chr3:67451134-67451135	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140259546	chr3:67451135-67451136	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373480304	chr3:67451137-67451138	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs180701292	chr3:67451163-67451164	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377167289	chr3:67451164-67451165	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs199604171	chr3:67451171-67451172	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs77723213	chr3:67451175-67451176	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67412400-67453000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr3:67414400-67470800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr3:67420200-67452000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:67420200-67479400	Weak transcription	Esophagus	oesophagus
5	chr3:67424600-67457000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr3:67424600-67466000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:67424600-67471000	Weak transcription	Colonic Mucosa	Colon
8	chr3:67425000-67465200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:67425000-67474200	Weak transcription	Gastric	stomach
10	chr3:67425800-67456000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr3:67427000-67462800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:67431600-67451000	Weak transcription	Pancreas	Pancrea
13	chr3:67431600-67469400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:67433600-67465800	Weak transcription	NHLF	lung
15	chr3:67435000-67466000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr3:67435400-67452600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:67435400-67452800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr3:67435400-67462800	Weak transcription	HSMMtube	muscle
19	chr3:67435400-67467200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:67435600-67450800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr3:67435600-67463200	Weak transcription	Fetal Lung	lung
22	chr3:67435600-67509800	Weak transcription	Ovary	ovary
23	chr3:67435600-67534200	Weak transcription	Aorta	Aorta
24	chr3:67435800-67462800	Weak transcription	Fetal Muscle Leg	muscle
25	chr3:67436000-67462800	Weak transcription	Right Ventricle	heart
26	chr3:67436200-67455400	Weak transcription	Left Ventricle	heart
27	chr3:67437400-67462200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:67440000-67470600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr3:67440600-67454800	Weak transcription	Fetal Kidney	kidney
30	chr3:67440800-67457400	Weak transcription	HepG2	liver
31	chr3:67441200-67471600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr3:67441800-67460200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr3:67442800-67450800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr3:67442800-67456200	Weak transcription	Thymus	Thymus
35	chr3:67442800-67465400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:67442800-67467200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:67442800-67478000	Weak transcription	Lung	lung
38	chr3:67443000-67462600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr3:67443400-67456200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr3:67446800-67460600	Weak transcription	Placenta	Placenta
41	chr3:67447600-67454400	Weak transcription	NH-A	brain
42	chr3:67448400-67453000	Weak transcription	Brain Anterior Caudate	brain
43	chr3:67448800-67459200	Weak transcription	HUVEC	blood vessel
44	chr3:67449400-67486600	Weak transcription	Fetal Stomach	stomach
45	chr3:67449600-67450600	Strong transcription	Primary B cells from cord blood	blood
46	chr3:67449600-67450600	Strong transcription	A549	lung
47	chr3:67449600-67451200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr3:67449600-67451200	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr3:67449600-67451200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr3:67449600-67451200	Strong transcription	Adipose Nuclei	Adipose

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