Variant report

Variant	esv3418868
Chromosome Location	chr4:18965304-18967502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77583232	chr4:18965369-18965370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141990948	chr4:18965450-18965451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188568334	chr4:18965488-18965489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75570920	chr4:18965504-18965505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540525653	chr4:18965543-18965544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181188480	chr4:18965569-18965570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532308854	chr4:18965571-18965572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544355968	chr4:18965583-18965584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562557365	chr4:18965591-18965592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530181952	chr4:18965600-18965601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541141664	chr4:18965630-18965631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1452568	chr4:18965691-18965692	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs185452505	chr4:18965701-18965702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117120849	chr4:18965754-18965755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2537935	chr4:18965803-18965804	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs142612948	chr4:18965911-18965912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538163347	chr4:18965917-18965918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2537934	chr4:18965934-18965935	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs207464346	chr4:18965989-18965990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144042553	chr4:18966013-18966014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190739526	chr4:18966068-18966069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1452569	chr4:18966280-18966281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs542304903	chr4:18966322-18966323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201629798	chr4:18966434-18966435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184232254	chr4:18966440-18966441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149275681	chr4:18966444-18966445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558597396	chr4:18966452-18966453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148235541	chr4:18966461-18966462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186990433	chr4:18966472-18966473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1452570	chr4:18966543-18966544	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs2123315	chr4:18966569-18966570	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs74675792	chr4:18966570-18966571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191912294	chr4:18966575-18966576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1452571	chr4:18966603-18966604	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs75206733	chr4:18966630-18966631	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182753980	chr4:18966634-18966635	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77213584	chr4:18966672-18966673	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2123316	chr4:18966704-18966705	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs187082842	chr4:18966721-18966722	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568632991	chr4:18966768-18966769	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375343760	chr4:18966778-18966779	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536104804	chr4:18966783-18966784	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563664206	chr4:18966800-18966801	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374199784	chr4:18966802-18966803	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs150737636	chr4:18966838-18966839	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs139485566	chr4:18966860-18966861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs145009249	chr4:18966957-18966958	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs558497656	chr4:18967059-18967060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576792718	chr4:18967069-18967070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191789754	chr4:18967102-18967103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:18964400-18966600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr4:18964400-18966800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:18966600-18967000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr4:18966800-18967000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:18967000-18972400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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