Variant report

Variant	nsv876685
Chromosome Location	chr3:34615754-34662157
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:34661198..34662050-chr3:34724950..34725978,3	MCF-7	breast:
2	chr3:34627278..34630156-chr3:34630613..34633279,2	K562	blood:
3	chr3:34627278..34630156-chr3:34630613..34633279,2	K562	blood:

Extended variants
information (count: 316 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13074645	chr3:34615754-34615755	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554403513	chr3:34615766-34615767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369194344	chr3:34615792-34615793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537739664	chr3:34615877-34615878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs17031936	chr3:34615898-34615899	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs541856690	chr3:34615918-34615919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34410622	chr3:34616011-34616012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111356353	chr3:34616013-34616014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35259650	chr3:34616016-34616017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35139729	chr3:34616017-34616018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560119403	chr3:34616063-34616064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572169250	chr3:34616224-34616225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376407257	chr3:34616241-34616242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115286118	chr3:34616279-34616280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35587511	chr3:34616374-34616375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185609739	chr3:34616401-34616402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373823804	chr3:34616402-34616403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190749627	chr3:34616403-34616404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562233056	chr3:34616446-34616447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529637295	chr3:34616499-34616500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34441662	chr3:34616502-34616503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539651495	chr3:34616533-34616534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547370323	chr3:34616546-34616547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183042424	chr3:34616548-34616549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538462898	chr3:34616593-34616594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17031937	chr3:34616636-34616637	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs146413623	chr3:34616648-34616649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78065445	chr3:34616656-34616657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140825540	chr3:34616667-34616668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555585275	chr3:34616679-34616680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573809452	chr3:34616704-34616705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534928798	chr3:34616713-34616714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs17031938	chr3:34616728-34616729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs139021912	chr3:34616737-34616738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545819764	chr3:34616739-34616740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564223536	chr3:34616831-34616832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116109499	chr3:34616834-34616835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543649534	chr3:34616857-34616858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115184269	chr3:34616895-34616896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116317980	chr3:34616896-34616897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188584965	chr3:34616901-34616902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs193261802	chr3:34616958-34616959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532941901	chr3:34616987-34616988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143760862	chr3:34616990-34616991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569649050	chr3:34617005-34617006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78061357	chr3:34617026-34617027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148147071	chr3:34617027-34617028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112234500	chr3:34617065-34617066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540972612	chr3:34617075-34617076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182910064	chr3:34617107-34617108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:34615400-34616600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:34615600-34617400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:34617000-34617600	Enhancers	Fetal Brain Female	brain
4	chr3:34624600-34625400	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr3:34627800-34628200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:34628200-34628400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:34633400-34635600	Weak transcription	Thymus	Thymus
8	chr3:34637400-34638600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:34637600-34638800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:34645000-34645600	ZNF genes & repeats	Aorta	Aorta
11	chr3:34652600-34653000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links