Variant report

Variant	esv3390283
Chromosome Location	chr4:20464254-20466302
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35557680	chr4:20464296-20464297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563687452	chr4:20464329-20464330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192846174	chr4:20464335-20464336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75255356	chr4:20464364-20464365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185322674	chr4:20464390-20464391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141510805	chr4:20464392-20464393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73108646	chr4:20464406-20464407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532724056	chr4:20464443-20464444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147519569	chr4:20464444-20464445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs61789431	chr4:20464451-20464452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571243582	chr4:20464492-20464493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532108537	chr4:20464538-20464539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550602793	chr4:20464608-20464609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190205631	chr4:20464631-20464632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2322556	chr4:20464655-20464656	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs555134256	chr4:20464694-20464695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566987502	chr4:20464726-20464727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138538139	chr4:20464743-20464744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558596268	chr4:20464756-20464757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576941878	chr4:20464848-20464849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192512748	chr4:20464869-20464870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544160351	chr4:20464876-20464877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7678972	chr4:20464893-20464894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73252415	chr4:20464915-20464916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556286837	chr4:20464925-20464926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575490927	chr4:20464970-20464971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542599628	chr4:20465020-20465021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72362015	chr4:20465072-20465073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13105488	chr4:20465075-20465076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150686888	chr4:20465093-20465094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs56256520	chr4:20465114-20465115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374561880	chr4:20465115-20465116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149073134	chr4:20465125-20465126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs202173983	chr4:20465136-20465137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375793654	chr4:20465138-20465139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs67992232	chr4:20465139-20465140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566186186	chr4:20465167-20465168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570394768	chr4:20465168-20465169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113079704	chr4:20465170-20465171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139471497	chr4:20465197-20465198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540442527	chr4:20465199-20465200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149475961	chr4:20465249-20465250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532246183	chr4:20465363-20465364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs59923482	chr4:20465368-20465369	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs9992544	chr4:20465371-20465372	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs180985080	chr4:20465372-20465373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10025733	chr4:20465385-20465386	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs537018168	chr4:20465431-20465432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534093241	chr4:20465444-20465445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs367753131	chr4:20465448-20465449	Weak transcription Enhancers	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20449600-20486000	Weak transcription	Fetal Lung	lung
2	chr4:20462800-20464600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:20464000-20464400	Enhancers	NHLF	lung
4	chr4:20464000-20465000	Enhancers	HUVEC	blood vessel
5	chr4:20464000-20465200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:20464000-20465200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr4:20464000-20466000	Enhancers	Osteobl	bone
8	chr4:20464000-20466600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:20464200-20464600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:20464200-20464600	Enhancers	Placenta Amnion	Placenta Amnion
11	chr4:20464200-20464600	Enhancers	NHEK	skin
12	chr4:20464400-20466000	Weak transcription	NHLF	lung
13	chr4:20464600-20465000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:20464600-20465600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:20464600-20465600	Weak transcription	NHEK	skin
16	chr4:20464600-20466200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:20464600-20532600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr4:20465000-20495000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:20465200-20465600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:20465200-20465600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr4:20465600-20466400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:20465600-20466600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:20465600-20466600	Enhancers	NHDF-Ad	bronchial
24	chr4:20465600-20466600	Enhancers	NHEK	skin
25	chr4:20465600-20466800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:20465600-20466800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr4:20465600-20466800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:20465800-20466400	Enhancers	HMEC	breast
29	chr4:20466000-20466400	Enhancers	NHLF	lung
30	chr4:20466000-20466400	Flanking Active TSS	Osteobl	bone
31	chr4:20466200-20466600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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