Variant report

Variant	esv3464911
Chromosome Location	chr4:22661054-22666352
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 163 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:163 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150796297	chr4:22662239-22662240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117522220	chr4:22662249-22662250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553190219	chr4:22662259-22662260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559579348	chr4:22662260-22662261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573140005	chr4:22662264-22662265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139885315	chr4:22662316-22662317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145325427	chr4:22662332-22662333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2618953	chr4:22662333-22662334	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs115898307	chr4:22662389-22662390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574169704	chr4:22662397-22662398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541276676	chr4:22662449-22662450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184264914	chr4:22662465-22662466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533469744	chr4:22662470-22662471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114695538	chr4:22662472-22662473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112457971	chr4:22662481-22662482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2618952	chr4:22662489-22662490	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs562578483	chr4:22662493-22662494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563864461	chr4:22662501-22662502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373469577	chr4:22662508-22662509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376438370	chr4:22662582-22662583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567662656	chr4:22662618-22662619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528242474	chr4:22662628-22662629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147699277	chr4:22662671-22662672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188554008	chr4:22662707-22662708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374196510	chr4:22662719-22662720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs3086362	chr4:22662733-22662734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112369718	chr4:22662735-22662736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200205447	chr4:22662738-22662739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201352405	chr4:22662739-22662740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs199607900	chr4:22662740-22662741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200753927	chr4:22662741-22662742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201727158	chr4:22662743-22662744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538919560	chr4:22662760-22662761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557320806	chr4:22662818-22662819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373041103	chr4:22662834-22662835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532844818	chr4:22662841-22662842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140781299	chr4:22662861-22662862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546829208	chr4:22662863-22662864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566947210	chr4:22662899-22662900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554609943	chr4:22662957-22662958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149794590	chr4:22662997-22662998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192193367	chr4:22663011-22663012	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs145837866	chr4:22663025-22663026	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs114272266	chr4:22663060-22663061	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs545291437	chr4:22663101-22663102	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs563676996	chr4:22663115-22663116	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs529131112	chr4:22663219-22663220	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs542657100	chr4:22663261-22663262	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs561404218	chr4:22663262-22663263	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs114519732	chr4:22663280-22663281	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
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
Wilms tumour	21544195	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
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22662200-22663800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:22662400-22663000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:22662400-22663000	Enhancers	NHEK	skin
4	chr4:22662600-22663200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr4:22662600-22663400	Enhancers	HMEC	breast
6	chr4:22662800-22663200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:22662800-22663200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:22662800-22663200	Enhancers	Placenta	Placenta
9	chr4:22663000-22663400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:22663000-22663400	Flanking Active TSS	NHEK	skin
11	chr4:22663200-22668000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:22663200-22668600	Weak transcription	Placenta	Placenta
13	chr4:22663200-22674800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:22663400-22663800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:22663400-22664000	Enhancers	NHEK	skin
16	chr4:22663800-22665000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:22663800-22668400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:22664000-22668200	Weak transcription	NHEK	skin
19	chr4:22665000-22665200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:22665400-22665800	Enhancers	Fetal Intestine Small	intestine
21	chr4:22665600-22666000	Enhancers	Liver	Liver
22	chr4:22665800-22670000	Weak transcription	Fetal Intestine Small	intestine
23	chr4:22666000-22669200	Weak transcription	Liver	Liver

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