Variant report

Variant	esv3404810
Chromosome Location	chr8:125889954-125895701
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125890513..125892129-chr8:125892200..125894827,2	MCF-7	breast:
2	chr8:125891889..125894813-chr8:125896183..125898744,2	K562	blood:
3	chr8:125893804..125895346-chr8:125896613..125898917,2	MCF-7	breast:
4	chr8:125893623..125896589-chr8:125899803..125902568,2	MCF-7	breast:
5	chr8:125878085..125882426-chr8:125889275..125893034,5	MCF-7	breast:
6	chr8:125890513..125892129-chr8:125892200..125894827,2	MCF-7	breast:
7	chr8:125885238..125886912-chr8:125890382..125892259,2	MCF-7	breast:

Extended variants
information (count: 221 )
Associated
traits (count: 139 )

Variant overlapped rSNPs/rCNVs (count:221 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201319376	chr8:125889954-125889955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199768977	chr8:125889956-125889957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200721290	chr8:125889957-125889958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77554618	chr8:125889971-125889972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372912530	chr8:125889973-125889974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547473734	chr8:125890030-125890031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540734774	chr8:125890084-125890085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7465413	chr8:125890092-125890093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs549924589	chr8:125890095-125890096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569868251	chr8:125890108-125890109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs57912119	chr8:125890135-125890136	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs551364868	chr8:125890139-125890140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571269282	chr8:125890148-125890149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77459189	chr8:125890162-125890163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34324952	chr8:125890185-125890186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72718716	chr8:125890207-125890208	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs553896078	chr8:125890218-125890219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574060297	chr8:125890249-125890250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7462178	chr8:125890256-125890257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs543473365	chr8:125890368-125890369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141146791	chr8:125890394-125890395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7462143	chr8:125890397-125890398	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs143166031	chr8:125890400-125890401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572111134	chr8:125890403-125890404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs117262887	chr8:125890432-125890433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541022837	chr8:125890535-125890536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560846126	chr8:125890542-125890543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375243192	chr8:125890554-125890555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141575778	chr8:125890607-125890608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529761940	chr8:125890623-125890624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549733577	chr8:125890670-125890671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34818068	chr8:125890729-125890730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146667540	chr8:125890792-125890793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116247031	chr8:125890796-125890797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560567422	chr8:125890801-125890802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529230672	chr8:125890897-125890898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547386804	chr8:125890904-125890905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565637240	chr8:125890905-125890906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565918029	chr8:125890967-125890968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140261726	chr8:125890975-125890976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7387482	chr8:125891006-125891007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs567668630	chr8:125891040-125891041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7387480	chr8:125891041-125891042	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs556480140	chr8:125891058-125891059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs67108254	chr8:125891139-125891140	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs572921282	chr8:125891154-125891155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201232090	chr8:125891155-125891156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370048259	chr8:125891161-125891162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117850969	chr8:125891223-125891224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559339097	chr8:125891296-125891297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:139)

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
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
Acute myeloid leukemia	20729466	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
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
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	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
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16461302	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21611746	CNVD
Ductal carcinoma	22052326	CNVD
Gastric cancer	18160780	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125887200-125900200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:125892800-125894200	Enhancers	Fetal Muscle Trunk	muscle
3	chr8:125893400-125894000	Enhancers	NHEK	skin
4	chr8:125893400-125894200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:125893400-125894200	Enhancers	HSMM	muscle
6	chr8:125893600-125894000	Enhancers	HSMMtube	muscle
7	chr8:125894000-125895200	Weak transcription	HSMMtube	muscle
8	chr8:125894200-125895200	Weak transcription	HSMM	muscle
9	chr8:125894200-125900200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:125895200-125895400	Enhancers	Fetal Heart	heart
11	chr8:125895200-125895400	Enhancers	HSMMtube	muscle
12	chr8:125895200-125895600	Enhancers	Fetal Lung	lung
13	chr8:125895200-125895600	Enhancers	HSMM	muscle
14	chr8:125895600-125896800	Weak transcription	Fetal Heart	heart

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