Variant report

Variant	nsv593808
Chromosome Location	chr4:21566178-21577089
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 422 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:422 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16871442	chr4:21566178-21566179	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562816616	chr4:21566224-21566225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141314045	chr4:21566245-21566246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182586982	chr4:21566283-21566284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185914144	chr4:21566291-21566292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189964806	chr4:21566313-21566314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs972288	chr4:21566331-21566332	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs1841366	chr4:21566336-21566337	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs368428759	chr4:21566359-21566360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145102701	chr4:21566388-21566389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556097615	chr4:21566421-21566422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182376282	chr4:21566428-21566429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114969898	chr4:21566438-21566439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs3050019	chr4:21566469-21566470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs5856644	chr4:21566472-21566473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2323041	chr4:21566476-21566477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6448057	chr4:21566484-21566485	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs527718239	chr4:21566496-21566497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546157800	chr4:21566508-21566509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558065996	chr4:21566515-21566516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539670542	chr4:21566518-21566519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73252255	chr4:21566524-21566525	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs544638595	chr4:21566532-21566533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146860808	chr4:21566535-21566536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561237420	chr4:21566538-21566539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530144257	chr4:21566566-21566567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542261313	chr4:21566594-21566595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73252256	chr4:21566647-21566648	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs187044853	chr4:21566687-21566688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1380813	chr4:21566700-21566701	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs570832018	chr4:21566713-21566714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116433415	chr4:21566760-21566761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368502810	chr4:21566770-21566771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115790475	chr4:21566785-21566786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568003601	chr4:21566851-21566852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555021620	chr4:21566884-21566885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535245807	chr4:21566888-21566889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190284240	chr4:21566891-21566892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76582430	chr4:21566914-21566915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565914392	chr4:21566929-21566930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574964800	chr4:21566948-21566949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182873160	chr4:21566949-21566950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543917744	chr4:21567013-21567014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200628676	chr4:21567018-21567019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6824695	chr4:21567023-21567024	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs74829952	chr4:21567033-21567034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188855632	chr4:21567050-21567051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574771917	chr4:21567053-21567054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34348011	chr4:21567054-21567055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140665054	chr4:21567086-21567087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Pancreatic cancer	17952125	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21554800-21566200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:21560800-21571000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr4:21566200-21566800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:21570200-21570600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr4:21570400-21571200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:21570600-21571400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr4:21570600-21571600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr4:21570600-21571800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr4:21570800-21571800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr4:21571000-21571400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr4:21571200-21571600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:21571200-21571800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr4:21571200-21571800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr4:21571400-21577600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:21571600-21572600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:21571600-21575400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr4:21571800-21573000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr4:21572600-21573400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:21573000-21573200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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