Variant report

Variant	nsv593822
Chromosome Location	chr4:22165174-22246276
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:22238564..22239075-chr4:22358901..22359564,2	MCF-7	breast:
2	chr4:22219857..22222824-chr4:22225422..22227720,2	K562	blood:
3	chr4:22219857..22222824-chr4:22225422..22227720,2	K562	blood:

Extended variants
information (count: 2051 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:2051 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146506580	chr4:22169015-22169016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140947473	chr4:22169016-22169017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs193142931	chr4:22169096-22169097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531201230	chr4:22169142-22169143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112974788	chr4:22169153-22169154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150180528	chr4:22169162-22169163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529115992	chr4:22169164-22169165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567893068	chr4:22169191-22169192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113191652	chr4:22169233-22169234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185729485	chr4:22169239-22169240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534245497	chr4:22169266-22169267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558994797	chr4:22169311-22169312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372430665	chr4:22169312-22169313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188993653	chr4:22169313-22169314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556299184	chr4:22169331-22169332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538234284	chr4:22169415-22169416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556844066	chr4:22169422-22169423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575002374	chr4:22169448-22169449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111251437	chr4:22169468-22169469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111408883	chr4:22169490-22169491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114205590	chr4:22169524-22169525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376144753	chr4:22169528-22169529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191522002	chr4:22169553-22169554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138813651	chr4:22169582-22169583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367620081	chr4:22169600-22169601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565913340	chr4:22169628-22169629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184040868	chr4:22169699-22169700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188822332	chr4:22169766-22169767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529144930	chr4:22169807-22169808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181520840	chr4:22169828-22169829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148965130	chr4:22169839-22169840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533158492	chr4:22169872-22169873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547981332	chr4:22169878-22169879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114647643	chr4:22169893-22169894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570942985	chr4:22169913-22169914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538258437	chr4:22169914-22169915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559901416	chr4:22169940-22169941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370927200	chr4:22169950-22169951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556248139	chr4:22169980-22169981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147060983	chr4:22170031-22170032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535728083	chr4:22170032-22170033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554441984	chr4:22170039-22170040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572343313	chr4:22170049-22170050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113475078	chr4:22170089-22170090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557457346	chr4:22170092-22170093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575705936	chr4:22170114-22170115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138495770	chr4:22170119-22170120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10012709	chr4:22170125-22170126	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs573883057	chr4:22170126-22170127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186955324	chr4:22170166-22170167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22169000-22172400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:22171600-22172800	Enhancers	HMEC	breast
3	chr4:22171600-22172800	Enhancers	HSMM	muscle
4	chr4:22171600-22173200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:22171800-22172800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr4:22171800-22172800	Enhancers	NH-A	brain
7	chr4:22171800-22173000	Enhancers	Osteobl	bone
8	chr4:22172000-22172600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:22172000-22172600	Enhancers	NHEK	skin
10	chr4:22172000-22172800	Enhancers	HSMMtube	muscle
11	chr4:22172200-22172600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:22172200-22172600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:22172200-22172800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr4:22172400-22172800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:22172800-22180400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:22179800-22180600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:22180200-22181200	Enhancers	NH-A	brain
18	chr4:22180400-22180600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr4:22180400-22181000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:22180400-22181000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:22180400-22181000	Enhancers	NHEK	skin
22	chr4:22180400-22181600	Enhancers	HSMMtube	muscle
23	chr4:22180400-22181800	Enhancers	HSMM	muscle
24	chr4:22180400-22182200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:22180400-22182400	Enhancers	Osteobl	bone
26	chr4:22180600-22180800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr4:22180600-22181200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:22180600-22181200	Enhancers	NHLF	lung
29	chr4:22180600-22181400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:22180800-22181000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr4:22180800-22181200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:22181000-22181200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:22181000-22181200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr4:22181000-22181400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:22181000-22181400	Flanking Active TSS	NHEK	skin
36	chr4:22181000-22182200	Enhancers	HMEC	breast
37	chr4:22181200-22181400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:22181200-22181600	Flanking Active TSS	NH-A	brain
39	chr4:22181200-22182200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr4:22181200-22184600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:22181400-22181600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:22181400-22181600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:22181400-22181600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr4:22181400-22181800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:22181400-22182400	Enhancers	NHEK	skin
46	chr4:22181600-22181800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:22181600-22182400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr4:22181800-22183600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:22182200-22182400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:22182200-22182400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links