Variant report

Variant	esv3371063
Chromosome Location	chr4:22366904-22368152
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557044610	chr4:22366960-22366961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575293665	chr4:22366990-22366991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542970026	chr4:22367038-22367039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570169606	chr4:22367042-22367043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539512413	chr4:22367046-22367047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10032977	chr4:22367050-22367051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs546927048	chr4:22367096-22367097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138124342	chr4:22367121-22367122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540431771	chr4:22367135-22367136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6448153	chr4:22367156-22367157	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs11947143	chr4:22367173-22367174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533296701	chr4:22367218-22367219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545088670	chr4:22367231-22367232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377409823	chr4:22367239-22367240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199643521	chr4:22367240-22367241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112086992	chr4:22367242-22367243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs33958442	chr4:22367243-22367244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113417118	chr4:22367265-22367266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112703967	chr4:22367266-22367267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539681857	chr4:22367267-22367268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563377711	chr4:22367275-22367276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530792927	chr4:22367360-22367361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114234898	chr4:22367401-22367402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4605634	chr4:22367425-22367426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs1500465	chr4:22367428-22367429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs565465077	chr4:22367445-22367446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs57651268	chr4:22367477-22367478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs59776797	chr4:22367485-22367486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71193450	chr4:22367488-22367489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547176743	chr4:22367489-22367490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149594904	chr4:22367525-22367526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143266338	chr4:22367658-22367659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192454882	chr4:22367743-22367744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568942220	chr4:22367784-22367785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185048769	chr4:22367853-22367854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554226543	chr4:22367856-22367857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148354091	chr4:22367857-22367858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12645926	chr4:22367867-22367868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs558757269	chr4:22367920-22367921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189424756	chr4:22367987-22367988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142187447	chr4:22368062-22368063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181054492	chr4:22368119-22368120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22329000-22389400	Weak transcription	Pancreas	Pancrea
2	chr4:22336600-22385400	Weak transcription	Fetal Intestine Large	intestine
3	chr4:22354000-22378200	Weak transcription	Aorta	Aorta
4	chr4:22365600-22386800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:22365800-22384600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:22366000-22371400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:22366000-22385000	Weak transcription	NHEK	skin
8	chr4:22366600-22367600	Weak transcription	Osteobl	bone
9	chr4:22367600-22367800	Enhancers	Osteobl	bone

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