Variant report

Variant	nsv514200
Chromosome Location	chr4:20558028-20563890
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:20555229..20557515-chr4:20560187..20562423,2	K562	blood:
2	chr4:20555967..20557515-chr4:20560187..20562969,2	K562	blood:

Variant related genes	Relation type
ENSG00000145147	chromatin interactions

Extended variants
information (count: 225 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:225 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28580310	chr4:20558056-20558057	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187782567	chr4:20558128-20558129	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530277713	chr4:20558173-20558174	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548531334	chr4:20558196-20558197	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144651651	chr4:20558230-20558231	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527830005	chr4:20558288-20558289	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530199928	chr4:20558302-20558303	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6849284	chr4:20558318-20558319	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs570474388	chr4:20558335-20558336	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537857300	chr4:20558358-20558359	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs199706020	chr4:20558370-20558371	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79346073	chr4:20558375-20558376	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs67654389	chr4:20558376-20558377	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192895093	chr4:20558394-20558395	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539901020	chr4:20558434-20558435	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577372498	chr4:20558462-20558463	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569073152	chr4:20558490-20558491	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs58394102	chr4:20558509-20558510	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116273391	chr4:20558526-20558527	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187297508	chr4:20558538-20558539	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548825821	chr4:20558539-20558540	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558689291	chr4:20558546-20558547	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138617462	chr4:20558550-20558551	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6824425	chr4:20558562-20558563	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs192153458	chr4:20558631-20558632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs202241011	chr4:20558656-20558657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368226261	chr4:20558676-20558677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11732845	chr4:20558692-20558693	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs6829152	chr4:20558740-20558741	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs184549722	chr4:20558752-20558753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13148960	chr4:20558769-20558770	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs527890744	chr4:20558810-20558811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189333947	chr4:20558926-20558927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576922344	chr4:20558934-20558935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560866681	chr4:20558953-20558954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28889878	chr4:20558968-20558969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149295563	chr4:20559004-20559005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11732980	chr4:20559005-20559006	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs536201069	chr4:20559023-20559024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554910430	chr4:20559026-20559027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567048155	chr4:20559030-20559031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534264502	chr4:20559032-20559033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558650861	chr4:20559097-20559098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73801870	chr4:20559115-20559116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543713541	chr4:20559158-20559159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542226775	chr4:20559198-20559199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13123031	chr4:20559205-20559206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143576140	chr4:20559249-20559250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555931068	chr4:20559280-20559281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575070054	chr4:20559300-20559301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	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
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20492000-20599800	Weak transcription	Aorta	Aorta
2	chr4:20511800-20576200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:20519400-20571000	Weak transcription	Adipose Nuclei	Adipose
4	chr4:20533000-20578000	Weak transcription	NHLF	lung
5	chr4:20533800-20576200	Weak transcription	Left Ventricle	heart
6	chr4:20534800-20576400	Weak transcription	Fetal Brain Male	brain
7	chr4:20535800-20593600	Weak transcription	Fetal Kidney	kidney
8	chr4:20536600-20572200	Weak transcription	Placenta	Placenta
9	chr4:20536800-20618600	Weak transcription	Spleen	Spleen
10	chr4:20547000-20576000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:20549200-20568800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:20550000-20561400	Strong transcription	NHDF-Ad	bronchial
13	chr4:20550400-20561000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:20552400-20561000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:20552600-20558600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:20553000-20569200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:20553600-20565400	Weak transcription	Colon Smooth Muscle	Colon
18	chr4:20554200-20576600	Weak transcription	Fetal Stomach	stomach
19	chr4:20555200-20585600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr4:20555400-20562800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr4:20555400-20569200	Weak transcription	Osteobl	bone
22	chr4:20555600-20599200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr4:20555800-20559600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:20556000-20558600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:20556000-20559000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:20556000-20566400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr4:20556000-20591000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:20557600-20558200	Weak transcription	Fetal Lung	lung
29	chr4:20557800-20558600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr4:20558200-20558400	Strong transcription	Fetal Lung	lung
31	chr4:20558400-20558800	Weak transcription	Fetal Lung	lung
32	chr4:20558600-20559400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:20558600-20559400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:20558600-20567000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr4:20558800-20560800	Strong transcription	Fetal Lung	lung
36	chr4:20559000-20560000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:20559400-20560000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:20559400-20568200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:20560000-20567400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:20560000-20583200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr4:20560800-20562200	Weak transcription	Fetal Lung	lung
42	chr4:20561000-20567000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:20561000-20568600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:20561400-20567800	Weak transcription	NHDF-Ad	bronchial
45	chr4:20562200-20563000	Strong transcription	Fetal Lung	lung
46	chr4:20562800-20563200	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr4:20563000-20565200	Weak transcription	Fetal Lung	lung
48	chr4:20563200-20566800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links