Variant report

Variant	nsv593804
Chromosome Location	chr4:21469139-21477084
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:20774692..20775734-chr4:21470776..21471557,3	MCF-7	breast:
2	chr4:21186540..21187139-chr4:21470730..21471606,2	MCF-7	breast:
3	chr4:21186139..21187069-chr4:21470759..21471732,3	MCF-7	breast:

Extended variants
information (count: 159 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16871093	chr4:21469139-21469140	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs367971080	chr4:21469157-21469158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150939097	chr4:21469163-21469164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181444845	chr4:21469176-21469177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575079499	chr4:21469206-21469207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35870959	chr4:21469286-21469287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140902570	chr4:21469304-21469305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371575995	chr4:21469315-21469316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185002155	chr4:21469317-21469318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573737042	chr4:21469329-21469330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35599794	chr4:21469353-21469354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189075737	chr4:21469354-21469355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559614809	chr4:21469365-21469366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533431559	chr4:21469382-21469383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112286079	chr4:21469383-21469384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533632411	chr4:21469386-21469387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563935053	chr4:21469393-21469394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144717063	chr4:21469434-21469435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138599841	chr4:21469439-21469440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567920554	chr4:21469455-21469456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115433895	chr4:21469498-21469499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111749608	chr4:21469541-21469542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571267872	chr4:21469548-21469549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6842233	chr4:21469568-21469569	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs556755625	chr4:21469596-21469597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376363494	chr4:21469604-21469605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs66655313	chr4:21469619-21469620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536028718	chr4:21469639-21469640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559112891	chr4:21469670-21469671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73249601	chr4:21469676-21469677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181907865	chr4:21469717-21469718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368552400	chr4:21469737-21469738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541083199	chr4:21469743-21469744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553367856	chr4:21469747-21469748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577937691	chr4:21469777-21469778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs17464007	chr4:21469785-21469786	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs6847007	chr4:21469826-21469827	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs150353382	chr4:21469858-21469859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs58946492	chr4:21469922-21469923	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs561588123	chr4:21469965-21469966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373596209	chr4:21469974-21469975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546959648	chr4:21470002-21470003	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs571246408	chr4:21470035-21470036	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs375382867	chr4:21470039-21470040	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs369442817	chr4:21470086-21470087	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs532008282	chr4:21470087-21470088	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs6847768	chr4:21470091-21470092	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs186554981	chr4:21470106-21470107	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs80281126	chr4:21470128-21470129	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs554310724	chr4:21470138-21470139	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21468800-21469800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:21468800-21470000	Enhancers	NHEK	skin
3	chr4:21468800-21470200	Enhancers	HMEC	breast
4	chr4:21469000-21469200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:21469000-21469200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:21469200-21470000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:21469600-21471600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:21469800-21470200	Enhancers	Brain Cingulate Gyrus	brain
9	chr4:21469800-21471400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:21470000-21470200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:21470000-21470400	Active TSS	Brain Hippocampus Middle	brain
12	chr4:21470000-21470400	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr4:21470200-21470800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:21470200-21471600	Weak transcription	HMEC	breast
15	chr4:21470400-21470600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:21470400-21470600	Enhancers	Brain Hippocampus Middle	brain
17	chr4:21470600-21471600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:21470800-21471000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:21470800-21471600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:21470800-21472800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:21470800-21472800	Enhancers	Brain Germinal Matrix	brain
22	chr4:21471000-21472000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:21471400-21472200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:21471400-21472400	Enhancers	HSMM	muscle
25	chr4:21471400-21472600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr4:21471400-21472600	Enhancers	HUVEC	blood vessel
27	chr4:21471400-21472800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:21471600-21472000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:21471600-21472200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:21471600-21472400	Enhancers	HSMMtube	muscle
31	chr4:21471600-21472600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:21471600-21472600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr4:21471600-21472600	Enhancers	HMEC	breast
34	chr4:21471600-21472600	Enhancers	NH-A	brain
35	chr4:21471600-21472600	Enhancers	NHEK	skin
36	chr4:21471600-21472800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:21471800-21472200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:21472000-21472200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:21472000-21472600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:21472000-21472800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:21472600-21472800	Bivalent Enhancer	HUVEC	blood vessel
42	chr4:21472600-21473000	Bivalent Enhancer	HMEC	breast

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