Variant report

Variant	esv3349472
Chromosome Location	chr8:122002821-122005419
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:122002107..122004466-chr8:122157622..122160064,2	MCF-7	breast:
2	chr8:122000967..122003813-chr8:122005665..122008556,2	MCF-7	breast:
3	chr8:122001411..122003194-chr8:122185252..122188159,2	MCF-7	breast:

Extended variants
information (count: 123 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150456177	chr8:122002822-122002823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553707609	chr8:122002827-122002828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572160019	chr8:122002830-122002831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368449686	chr8:122002859-122002860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560957079	chr8:122002879-122002880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376134692	chr8:122002951-122002952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185998678	chr8:122002958-122002959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189676073	chr8:122002974-122002975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181355507	chr8:122003026-122003027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111934062	chr8:122003129-122003130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1631704	chr8:122003163-122003164	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs117118718	chr8:122003194-122003195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs137968846	chr8:122003218-122003219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549105652	chr8:122003228-122003229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1630924	chr8:122003237-122003238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs74483225	chr8:122003256-122003257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556123598	chr8:122003283-122003284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571588456	chr8:122003380-122003381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1655002	chr8:122003392-122003393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145736794	chr8:122003403-122003404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572189114	chr8:122003404-122003405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542843232	chr8:122003406-122003407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554735459	chr8:122003432-122003433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565190760	chr8:122003502-122003503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576192820	chr8:122003550-122003551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1368598	chr8:122003571-122003572	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs145528002	chr8:122003665-122003666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144380547	chr8:122003666-122003667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376589427	chr8:122003717-122003718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532087384	chr8:122003721-122003722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545389501	chr8:122003776-122003777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1433395	chr8:122003783-122003784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs185572681	chr8:122003792-122003793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6469977	chr8:122003833-122003834	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs67361012	chr8:122003837-122003838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561079608	chr8:122003844-122003845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1714662	chr8:122003846-122003847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs188651934	chr8:122003848-122003849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201312619	chr8:122003858-122003859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200003885	chr8:122003863-122003864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200786901	chr8:122003865-122003866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201923501	chr8:122003866-122003867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs59160181	chr8:122003867-122003868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200618169	chr8:122003868-122003869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71308625	chr8:122003869-122003870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199656767	chr8:122003871-122003872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200521573	chr8:122003872-122003873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376601719	chr8:122003873-122003874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201627386	chr8:122003875-122003876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574319778	chr8:122003885-122003886	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
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
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
Breast cancer	21364760	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Burkitt''s lymphoma	20823134	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121997800-122003000	Enhancers	Fetal Stomach	stomach
2	chr8:122001000-122003000	Enhancers	NHDF-Ad	bronchial
3	chr8:122001200-122003000	Enhancers	Fetal Lung	lung
4	chr8:122001600-122003000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:122001600-122003000	Enhancers	HSMM	muscle
6	chr8:122002200-122005400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:122002200-122005600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:122002200-122005600	Weak transcription	NH-A	brain
9	chr8:122002400-122005200	Weak transcription	Osteobl	bone
10	chr8:122002600-122005200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:122002600-122005200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr8:122002800-122005600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:122003000-122005400	Weak transcription	NHDF-Ad	bronchial
14	chr8:122003000-122005600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:122003000-122005600	Weak transcription	HSMM	muscle
16	chr8:122005200-122006000	Enhancers	Osteobl	bone
17	chr8:122005200-122006200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:122005200-122006200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:122005200-122006200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr8:122005200-122006200	Enhancers	HMEC	breast
21	chr8:122005400-122005800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:122005400-122005800	Enhancers	HSMMtube	muscle
23	chr8:122005400-122006000	Enhancers	NHDF-Ad	bronchial

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