Variant report

Variant	esv2611846
Chromosome Location	chr3:22963119-22964610
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:22963782..22964436-chr3:23093755..23094344,2	MCF-7	breast:
2	chr3:22963977..22966878-chr4:2943742..2946615,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533916047	chr3:22963179-22963180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35601600	chr3:22963201-22963202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs567948148	chr3:22963249-22963250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78540567	chr3:22963268-22963269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553671878	chr3:22963286-22963287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565245492	chr3:22963305-22963306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556828025	chr3:22963312-22963313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111482862	chr3:22963352-22963353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539258645	chr3:22963436-22963437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565025785	chr3:22963520-22963521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553868880	chr3:22963568-22963569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181585342	chr3:22963593-22963594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542624685	chr3:22963636-22963637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143622738	chr3:22963642-22963643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575996707	chr3:22963684-22963685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147168466	chr3:22963686-22963687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13058941	chr3:22963690-22963691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs138097503	chr3:22963709-22963710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375160886	chr3:22963719-22963720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532138016	chr3:22963740-22963741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567358327	chr3:22963761-22963762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574276446	chr3:22963769-22963770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191261275	chr3:22963785-22963786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542239054	chr3:22963805-22963806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560189520	chr3:22963829-22963830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141238355	chr3:22963843-22963844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536007550	chr3:22963903-22963904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558952320	chr3:22963910-22963911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182890739	chr3:22963911-22963912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6808532	chr3:22963947-22963948	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs538243959	chr3:22964022-22964023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550181947	chr3:22964108-22964109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571985817	chr3:22964111-22964112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376549203	chr3:22964112-22964113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575556884	chr3:22964123-22964124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539219672	chr3:22964145-22964146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554436309	chr3:22964232-22964233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185750763	chr3:22964237-22964238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6808876	chr3:22964281-22964282	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs62252313	chr3:22964317-22964318	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs6794105	chr3:22964321-22964322	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs73820487	chr3:22964326-22964327	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs115102927	chr3:22964337-22964338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191028049	chr3:22964362-22964363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540822003	chr3:22964365-22964366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559164808	chr3:22964379-22964380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529850733	chr3:22964445-22964446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532183076	chr3:22964462-22964463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542710284	chr3:22964473-22964474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561458485	chr3:22964494-22964495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22959600-22969800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr3:22964000-22964400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:22964200-22965800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr3:22964200-22966000	Enhancers	HUVEC	blood vessel
5	chr3:22964400-22965600	Enhancers	Hela-S3	cervix

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