Variant report

Variant	nsv819192
Chromosome Location	chr8:122410661-122416515
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	chr8:122415498..122417077-chr8:122417870..122419927,2	MCF-7	breast:

Extended variants
information (count: 231 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:231 , 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	rs116666897	chr8:122410685-122410686	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571483933	chr8:122410728-122410729	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542658301	chr8:122410737-122410738	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373882794	chr8:122410770-122410771	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556301959	chr8:122410788-122410789	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576292977	chr8:122410834-122410835	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538822482	chr8:122410847-122410848	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141848131	chr8:122410852-122410853	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565153318	chr8:122410881-122410882	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530993823	chr8:122410884-122410885	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183272062	chr8:122410888-122410889	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6985415	chr8:122410921-122410922	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs561308292	chr8:122411044-122411045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569411793	chr8:122411045-122411046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2386120	chr8:122411058-122411059	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs143572300	chr8:122411080-122411081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569856886	chr8:122411104-122411105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532566999	chr8:122411160-122411161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552384173	chr8:122411237-122411238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532032552	chr8:122411280-122411281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187660174	chr8:122411330-122411331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2891940	chr8:122411349-122411350	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs554964067	chr8:122411357-122411358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370687147	chr8:122411388-122411389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567210782	chr8:122411400-122411401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7004129	chr8:122411407-122411408	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs556289822	chr8:122411408-122411409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548166481	chr8:122411463-122411464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576231263	chr8:122411485-122411486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545208281	chr8:122411486-122411487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541112541	chr8:122411509-122411510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558750777	chr8:122411525-122411526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7004316	chr8:122411574-122411575	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs148028144	chr8:122411591-122411592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561036717	chr8:122411617-122411618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577927268	chr8:122411648-122411649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116889353	chr8:122411677-122411678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373564161	chr8:122411683-122411684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543460681	chr8:122411703-122411704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371765960	chr8:122411704-122411705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113520850	chr8:122411757-122411758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200702909	chr8:122411776-122411777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7004666	chr8:122411782-122411783	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs530710823	chr8:122411797-122411798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141480088	chr8:122411801-122411802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559848954	chr8:122411824-122411825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7018175	chr8:122411833-122411834	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs7018045	chr8:122411837-122411838	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs150841802	chr8:122411883-122411884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536231976	chr8:122411914-122411915	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
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
Burkitt''s lymphoma	20823134	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122406800-122417400	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr8:122409800-122411000	Enhancers	Muscle Satellite Cultured Cells	--
3	chr8:122409800-122411600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:122410000-122411000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:122410000-122411400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:122410000-122411400	Enhancers	NHLF	lung
7	chr8:122410000-122412200	Enhancers	Osteobl	bone
8	chr8:122410200-122411000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr8:122410400-122411000	Enhancers	Brain Substantia Nigra	brain
10	chr8:122410400-122411000	Enhancers	Hela-S3	cervix
11	chr8:122410600-122411000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:122410600-122411000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:122410600-122411000	Enhancers	Stomach Mucosa	stomach
14	chr8:122410600-122411000	Enhancers	NHDF-Ad	bronchial
15	chr8:122410600-122411400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:122410800-122411400	Enhancers	Ovary	ovary
17	chr8:122410800-122411600	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr8:122411000-122411800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr8:122411000-122412600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:122411000-122415600	Weak transcription	NHDF-Ad	bronchial
21	chr8:122411000-122416000	Weak transcription	Stomach Mucosa	stomach
22	chr8:122411400-122412000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:122411400-122417600	Weak transcription	NHLF	lung
24	chr8:122411800-122412000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr8:122412000-122412200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:122412000-122417600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr8:122412200-122415600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:122412200-122417600	Weak transcription	Osteobl	bone
29	chr8:122412600-122417800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:122415600-122416000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:122415600-122420800	Enhancers	NHDF-Ad	bronchial
32	chr8:122415800-122416200	Enhancers	Fetal Lung	lung
33	chr8:122416000-122416800	Enhancers	Stomach Mucosa	stomach
34	chr8:122416000-122417000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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