Variant report

Variant	esv1827242
Chromosome Location	chr4:19858413-19864321
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545684581	chr4:19858501-19858502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564144351	chr4:19858514-19858515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531186581	chr4:19858525-19858526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545438504	chr4:19858563-19858564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549871051	chr4:19858655-19858656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143444888	chr4:19858667-19858668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188746371	chr4:19858686-19858687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529492199	chr4:19858732-19858733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561021760	chr4:19858748-19858749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566266598	chr4:19858755-19858756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540168431	chr4:19858819-19858820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73236299	chr4:19858826-19858827	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs11731860	chr4:19858865-19858866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570051609	chr4:19858871-19858872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537013517	chr4:19858875-19858876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555841979	chr4:19858876-19858877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73097665	chr4:19858897-19858898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11731893	chr4:19858961-19858962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534792114	chr4:19859032-19859033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147570040	chr4:19859045-19859046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368729296	chr4:19859066-19859067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34098775	chr4:19859116-19859117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142048425	chr4:19859129-19859130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543448359	chr4:19859163-19859164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369566843	chr4:19859191-19859192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563525100	chr4:19859200-19859201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371976542	chr4:19859251-19859252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145888565	chr4:19859325-19859326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575996823	chr4:19859331-19859332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543004193	chr4:19859341-19859342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561720266	chr4:19859392-19859393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34443482	chr4:19859393-19859394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532888624	chr4:19859406-19859407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138802460	chr4:19859455-19859456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547498077	chr4:19859466-19859467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192840403	chr4:19859501-19859502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539715929	chr4:19859511-19859512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142353443	chr4:19859548-19859549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537454320	chr4:19859566-19859567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533534504	chr4:19859585-19859586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73236300	chr4:19859596-19859597	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs570216140	chr4:19859639-19859640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537459530	chr4:19859643-19859644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549157405	chr4:19859650-19859651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567644591	chr4:19859742-19859743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534826676	chr4:19859751-19859752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73236302	chr4:19859776-19859777	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs375378662	chr4:19859804-19859805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539214112	chr4:19859847-19859848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528643155	chr4:19859944-19859945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Cancer	20164919	CNVD
Colorectal cancer	16774939	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:19857400-19859000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:19857400-19859000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:19859000-19860000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:19859000-19860200	Enhancers	Fetal Brain Male	brain
5	chr4:19860000-19860200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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