Variant report

Variant	nsv521942
Chromosome Location	chr3:22123064-22139499
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:22130685..22131408-chr3:22159081..22159858,3	MCF-7	breast:
2	chr3:22130650..22131348-chr3:22159010..22159875,2	MCF-7	breast:
3	chr3:22127371..22129495-chr3:22135710..22137615,2	K562	blood:
4	chr3:22115704..22118143-chr3:22137096..22138813,2	MCF-7	breast:
5	chr3:22127371..22129495-chr3:22135710..22137615,2	K562	blood:
6	chr3:22130623..22131453-chr3:22928892..22930144,3	K562	blood:

Extended variants
information (count: 538 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:538 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1871523	chr3:22129829-22129830	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2170091	chr3:22129839-22129840	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs540638849	chr3:22129859-22129860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372142313	chr3:22129864-22129865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563715417	chr3:22129867-22129868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558996012	chr3:22129873-22129874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1871522	chr3:22129881-22129882	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs187044528	chr3:22129932-22129933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569822704	chr3:22129935-22129936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530665253	chr3:22129946-22129947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552425708	chr3:22129947-22129948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191109693	chr3:22129982-22129983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539002756	chr3:22129993-22129994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566001422	chr3:22130002-22130003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554232283	chr3:22130017-22130018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182676048	chr3:22130035-22130036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536754934	chr3:22130050-22130051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186012362	chr3:22130058-22130059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576556473	chr3:22130099-22130100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2620543	chr3:22130107-22130108	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs551532746	chr3:22130109-22130110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547117819	chr3:22130117-22130118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559168625	chr3:22130132-22130133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs57059564	chr3:22130147-22130148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577139420	chr3:22130183-22130184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138239573	chr3:22130192-22130193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540577234	chr3:22130195-22130196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200155382	chr3:22130197-22130198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529681412	chr3:22130234-22130235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147837620	chr3:22130278-22130279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148905823	chr3:22130282-22130283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116540038	chr3:22130289-22130290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143651415	chr3:22130311-22130312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570699559	chr3:22130338-22130339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528399205	chr3:22130379-22130380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs151049097	chr3:22130380-22130381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs367815477	chr3:22130382-22130383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182506915	chr3:22130391-22130392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2695642	chr3:22130392-22130393	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs369637534	chr3:22130407-22130408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187365154	chr3:22130417-22130418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191953739	chr3:22130455-22130456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140978510	chr3:22130478-22130479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375170661	chr3:22130507-22130508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1965284	chr3:22130509-22130510	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs79087205	chr3:22130518-22130519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs9832978	chr3:22130526-22130527	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs553298805	chr3:22130527-22130528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145074270	chr3:22130536-22130537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138880783	chr3:22130553-22130554	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
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
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	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
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22129800-22130200	Enhancers	Fetal Lung	lung
2	chr3:22129800-22130800	Enhancers	Colon Smooth Muscle	Colon
3	chr3:22130600-22130800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:22130600-22130800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:22130800-22131000	Active TSS	Hela-S3	cervix
6	chr3:22130800-22131200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:22130800-22131200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:22130800-22131200	Enhancers	Adipose Nuclei	Adipose
9	chr3:22130800-22132400	Enhancers	Liver	Liver
10	chr3:22131000-22131200	Enhancers	Pancreas	Pancrea
11	chr3:22131000-22131200	Flanking Active TSS	Hela-S3	cervix
12	chr3:22131200-22133000	Enhancers	Hela-S3	cervix
13	chr3:22132800-22133200	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr3:22133200-22133800	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr3:22135000-22135400	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr3:22135400-22139600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr3:22138200-22139000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:22139000-22139800	Enhancers	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links