Variant report

Variant	nsv522496
Chromosome Location	chr3:56197528-56206591
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:56201725..56204138-chr3:56206352..56209786,3	K562	blood:
2	chr3:56201725..56203541-chr3:56206352..56208768,2	K562	blood:

Variant related genes	Relation type
ENSG00000187672	chromatin interactions

Extended variants
information (count: 359 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:359 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11712407	chr3:56197528-56197529	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs140387346	chr3:56197529-56197530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543067040	chr3:56197539-56197540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556482101	chr3:56197542-56197543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150388323	chr3:56197585-56197586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184697530	chr3:56197631-56197632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545311352	chr3:56197651-56197652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575807132	chr3:56197661-56197662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527316057	chr3:56197666-56197667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113329161	chr3:56197704-56197705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370671580	chr3:56197768-56197769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529756928	chr3:56197778-56197779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549822252	chr3:56197779-56197780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569770851	chr3:56197820-56197821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2316477	chr3:56197899-56197900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs2316478	chr3:56197929-56197930	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs138022624	chr3:56197947-56197948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2316479	chr3:56197998-56197999	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs142597388	chr3:56198006-56198007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188314289	chr3:56198007-56198008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2316480	chr3:56198099-56198100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs536369335	chr3:56198134-56198135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556586698	chr3:56198165-56198166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560530226	chr3:56198201-56198202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576591402	chr3:56198212-56198213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527695767	chr3:56198246-56198247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558868139	chr3:56198276-56198277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564017103	chr3:56198332-56198333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552790010	chr3:56198345-56198346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7636352	chr3:56198361-56198362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs191322578	chr3:56198384-56198385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560744528	chr3:56198396-56198397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550873613	chr3:56198424-56198425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529659834	chr3:56198432-56198433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7633985	chr3:56198457-56198458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs563374114	chr3:56198461-56198462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532395529	chr3:56198487-56198488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552392831	chr3:56198497-56198498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7644153	chr3:56198498-56198499	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs559489195	chr3:56198518-56198519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183468540	chr3:56198536-56198537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145958379	chr3:56198575-56198576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536633840	chr3:56198603-56198604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7644257	chr3:56198612-56198613	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs374182754	chr3:56198635-56198636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570130163	chr3:56198636-56198637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538884424	chr3:56198680-56198681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111475062	chr3:56198737-56198738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572279992	chr3:56198763-56198764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535004564	chr3:56198826-56198827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Myofibroblastic sarcoma	19369631	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	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
Renal cell carcinoma	18765545	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56192400-56204200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:56203400-56204600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:56204000-56204400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:56204000-56204400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:56204000-56204400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr3:56204200-56204400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:56204400-56205800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr3:56204400-56206200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:56204400-56207200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr3:56205800-56207400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr3:56206200-56206400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:56206400-56207200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links