Variant report

Variant	nsv877335
Chromosome Location	chr3:109986271-110061676
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:110022159..110024501-chr6:145141877..145144734,2	MCF-7	breast:
2	chr3:110022942..110025817-chr3:110056639..110058339,2	K562	blood:
3	chr3:110059725..110061588-chr3:110063064..110065714,2	K562	blood:
4	chr3:110022942..110025817-chr3:110056639..110058339,2	K562	blood:
5	chr3:109250448..109251796-chr3:110033305..110033942,4	MCF-7	breast:
6	chr3:109450507..109451352-chr3:110033129..110033977,4	MCF-7	breast:
7	chr3:110033087..110033610-chr3:110063315..110064271,2	K562	blood:

Extended variants
information (count: 1599 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1599 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2614696	chr3:109986271-109986272	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191403783	chr3:109986300-109986301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539032735	chr3:109986309-109986310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530277725	chr3:109986318-109986319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149884501	chr3:109986324-109986325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572806837	chr3:109986346-109986347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535677927	chr3:109986366-109986367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147413973	chr3:109986435-109986436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555137277	chr3:109986459-109986460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542077533	chr3:109986470-109986471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575187156	chr3:109986471-109986472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372754183	chr3:109986492-109986493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374610033	chr3:109986499-109986500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368315922	chr3:109986548-109986549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376013369	chr3:109986604-109986605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544083988	chr3:109986607-109986608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564004452	chr3:109986608-109986609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144868307	chr3:109986612-109986613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372068778	chr3:109986658-109986659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559805147	chr3:109986659-109986660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375180646	chr3:109986670-109986671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531224593	chr3:109986674-109986675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11363069	chr3:109986699-109986700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs397874731	chr3:109986708-109986709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528569013	chr3:109986752-109986753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183150432	chr3:109986781-109986782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs367941926	chr3:109986792-109986793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562245882	chr3:109986819-109986820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570816345	chr3:109986912-109986913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187828430	chr3:109986947-109986948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs80035054	chr3:109986955-109986956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551314269	chr3:109986975-109986976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528503970	chr3:109986995-109986996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571031758	chr3:109987067-109987068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs6790010	chr3:109987098-109987099	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs6790014	chr3:109987108-109987109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566607414	chr3:109987138-109987139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535153031	chr3:109987140-109987141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144510220	chr3:109987143-109987144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9862390	chr3:109987168-109987169	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs115802371	chr3:109987191-109987192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557632647	chr3:109987225-109987226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577819312	chr3:109987271-109987272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191928027	chr3:109987283-109987284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374713665	chr3:109987298-109987299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535973663	chr3:109987322-109987323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553090970	chr3:109987360-109987361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73851465	chr3:109987379-109987380	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs185184229	chr3:109987386-109987387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568751471	chr3:109987398-109987399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
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
Prostate cancer	21965145	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
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:109984200-109990600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr3:109984400-109986800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:109985000-109992000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:109985200-109991000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr3:109985400-109991000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr3:109985600-109990600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr3:109986000-109987600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:109986200-109986400	Enhancers	Ovary	ovary
9	chr3:109986200-109987400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr3:109986800-109987400	Enhancers	Primary hematopoietic stem cells	blood
11	chr3:109986800-109987400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr3:109986800-109988200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:109988200-109991200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:109990600-109992200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr3:109990600-109992400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr3:109990600-109992400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr3:109990800-109992200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr3:109990800-109992600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr3:109991000-109991600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:109991000-109992200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr3:109991000-109992200	Enhancers	Fetal Heart	heart
22	chr3:109991000-109992600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr3:109991000-109993000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr3:109991200-109991600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:109992000-109992200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr3:109995400-109995600	Enhancers	HSMM	muscle
27	chr3:110001600-110002000	Enhancers	Fetal Brain Male	brain
28	chr3:110002000-110002400	Enhancers	Brain Germinal Matrix	brain
29	chr3:110002000-110002800	Enhancers	Fetal Brain Female	brain
30	chr3:110009600-110009800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:110009800-110012800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:110012800-110013200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:110013000-110015200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
34	chr3:110013200-110014000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:110014000-110014800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:110014800-110019400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr3:110015200-110015800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr3:110015200-110016000	Enhancers	HSMM	muscle
39	chr3:110015400-110016000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr3:110015400-110016000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:110015600-110016000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr3:110015600-110016000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:110015600-110016000	Enhancers	NH-A	brain
44	chr3:110015800-110016200	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr3:110025400-110027000	Enhancers	Dnd41	blood
46	chr3:110026200-110026800	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr3:110026200-110027200	Enhancers	NHDF-Ad	bronchial
48	chr3:110029000-110030000	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr3:110029000-110031400	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr3:110030000-110030400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links