Variant report

Variant	nsv967225
Chromosome Location	chr3:85474262-85482151
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	chr3:85468729..85471491-chr3:85479728..85483045,3	K562	blood:
2	chr3:85476815..85480076-chr3:85489792..85493283,3	K562	blood:

Extended variants
information (count: 123 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549462867	chr3:85474304-85474305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569456590	chr3:85474307-85474308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573074561	chr3:85474419-85474420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192338866	chr3:85474429-85474430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75499511	chr3:85474435-85474436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554974572	chr3:85474441-85474442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577470302	chr3:85474613-85474614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568623523	chr3:85474650-85474651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544627450	chr3:85474697-85474698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573538265	chr3:85474709-85474710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148818959	chr3:85474710-85474711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530077461	chr3:85474719-85474720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143466361	chr3:85474720-85474721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183489524	chr3:85474810-85474811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372632044	chr3:85474837-85474838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528251468	chr3:85474842-85474843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546817590	chr3:85474861-85474862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571397691	chr3:85474865-85474866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4856571	chr3:85474868-85474869	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs560260136	chr3:85474869-85474870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568813745	chr3:85474909-85474910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535867698	chr3:85474913-85474914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554210489	chr3:85474928-85474929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115519792	chr3:85474932-85474933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7613049	chr3:85474953-85474954	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs188609518	chr3:85474954-85474955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs36041727	chr3:85474971-85474972	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs544876701	chr3:85474978-85474979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556608900	chr3:85474979-85474980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147221817	chr3:85474991-85474992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7623369	chr3:85474992-85474993	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs560522580	chr3:85475011-85475012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556679090	chr3:85475019-85475020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181094109	chr3:85475040-85475041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138795255	chr3:85475053-85475054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546359905	chr3:85475055-85475056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377754561	chr3:85475071-85475072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142817582	chr3:85475085-85475086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371193779	chr3:85475149-85475150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550823618	chr3:85475227-85475228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114396850	chr3:85475248-85475249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75946325	chr3:85475281-85475282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78544016	chr3:85475282-85475283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74664784	chr3:85475292-85475293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78690371	chr3:85475293-85475294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9827521	chr3:85475336-85475337	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs533634314	chr3:85475337-85475338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529324056	chr3:85475365-85475366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114220792	chr3:85475377-85475378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571006283	chr3:85475409-85475410	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85470400-85475400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:85475400-85475600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:85476400-85477000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr3:85481200-85482000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:85482000-85482600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links