Variant report

Variant	esv3364617
Chromosome Location	chr3:22975148-22978146
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	chr3:22975365..22978153-chr3:22981421..22983815,2	MCF-7	breast:

Extended variants
information (count: 144 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148471206	chr3:22975186-22975187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112789264	chr3:22975234-22975235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527945146	chr3:22975281-22975282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116605911	chr3:22975293-22975294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567831397	chr3:22975294-22975295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149358595	chr3:22975322-22975323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556279415	chr3:22975339-22975340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74556901	chr3:22975449-22975450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114080399	chr3:22975475-22975476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553772288	chr3:22975561-22975562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114103719	chr3:22975620-22975621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184861270	chr3:22975637-22975638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs151049203	chr3:22975642-22975643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554455904	chr3:22975677-22975678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190137762	chr3:22975679-22975680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376013766	chr3:22975686-22975687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549958443	chr3:22975723-22975724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11717275	chr3:22975733-22975734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs578078005	chr3:22975772-22975773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563956070	chr3:22975773-22975774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112327827	chr3:22975782-22975783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367864186	chr3:22975792-22975793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560450755	chr3:22975793-22975794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200862110	chr3:22975807-22975808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527707393	chr3:22975826-22975827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549664236	chr3:22975830-22975831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200477649	chr3:22975831-22975832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561603629	chr3:22975858-22975859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549708147	chr3:22975873-22975874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531921136	chr3:22975879-22975880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573523272	chr3:22975898-22975899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146626653	chr3:22975905-22975906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147894885	chr3:22975909-22975910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141776690	chr3:22975913-22975914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368245409	chr3:22975917-22975918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193162326	chr3:22975923-22975924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200896633	chr3:22975930-22975931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138331016	chr3:22975931-22975932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149650388	chr3:22975935-22975936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201269849	chr3:22975952-22975953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201435629	chr3:22975954-22975955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184349262	chr3:22975957-22975958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189546142	chr3:22975961-22975962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536638893	chr3:22975969-22975970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565644429	chr3:22975975-22975976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529435181	chr3:22975983-22975984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559956715	chr3:22975984-22975985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199764509	chr3:22975998-22975999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200908809	chr3:22976001-22976002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551976018	chr3:22976004-22976005	Weak transcription Enhancers	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22970200-22976600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr3:22970600-22976400	Weak transcription	Fetal Muscle Leg	muscle
3	chr3:22971000-22976200	Weak transcription	Fetal Stomach	stomach
4	chr3:22971000-22978400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr3:22971000-22978800	Weak transcription	Colon Smooth Muscle	Colon
6	chr3:22971200-22979000	Weak transcription	Ovary	ovary
7	chr3:22975000-22975600	Enhancers	Fetal Lung	lung
8	chr3:22975600-22976000	Weak transcription	Fetal Lung	lung
9	chr3:22976000-22978200	Enhancers	Fetal Lung	lung
10	chr3:22976200-22976400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr3:22976200-22976800	Enhancers	Fetal Stomach	stomach
12	chr3:22976200-22977200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:22976400-22976600	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr3:22976400-22976800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:22976400-22976800	Enhancers	Fetal Muscle Leg	muscle
16	chr3:22976400-22977200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:22976600-22977200	Enhancers	Rectal Smooth Muscle	rectum
18	chr3:22976600-22981800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr3:22976800-22978200	Weak transcription	Fetal Stomach	stomach
20	chr3:22977000-22977600	Enhancers	Fetal Brain Male	brain
21	chr3:22977200-22978600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:22977200-22978600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr3:22977200-22979000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:22977600-22978200	Weak transcription	Fetal Brain Male	brain

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