Variant report

Variant	esv3398634
Chromosome Location	chr8:120509296-120512444
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	chr8:120512311..120515300-chr8:120520642..120523433,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540006817	chr8:120509341-120509342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373889555	chr8:120509378-120509379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549911333	chr8:120511606-120511607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571683392	chr8:120511626-120511627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550074186	chr8:120511701-120511702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374038613	chr8:120511704-120511705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs28673148	chr8:120511743-120511744	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs551608274	chr8:120511769-120511770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147680931	chr8:120511787-120511788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554866205	chr8:120511804-120511805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs28612171	chr8:120511819-120511820	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs181630690	chr8:120511833-120511834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558283869	chr8:120511849-120511850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184538204	chr8:120511877-120511878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540704825	chr8:120511878-120511879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76398070	chr8:120511888-120511889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572294569	chr8:120511952-120511953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189348923	chr8:120511971-120511972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181958757	chr8:120512020-120512021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531933574	chr8:120512038-120512039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185243530	chr8:120512079-120512080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs16892689	chr8:120512094-120512095	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs532578264	chr8:120512105-120512106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191223717	chr8:120512193-120512194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377104413	chr8:120512210-120512211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181253302	chr8:120512275-120512276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs117533699	chr8:120512283-120512284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186348356	chr8:120512288-120512289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72686363	chr8:120512379-120512380	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs191207000	chr8:120512392-120512393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182786527	chr8:120512394-120512395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:136)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Oral squamous cell carcinoma	21853135	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120509000-120509400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr8:120511600-120512200	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr8:120511600-120513000	Enhancers	Fetal Muscle Leg	muscle
4	chr8:120512200-120513200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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