Variant report

Variant	nsv520451
Chromosome Location	chr8:122465611-122466427
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	chr8:122457060..122461266-chr8:122463602..122466712,4	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16895408	chr8:122465611-122465612	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11358279	chr8:122465617-122465618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs67681234	chr8:122465745-122465746	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs556672677	chr8:122465758-122465759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530817171	chr8:122465760-122465761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568883983	chr8:122465804-122465805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531055443	chr8:122465874-122465875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370127191	chr8:122465876-122465877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73332353	chr8:122465949-122465950	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs570729577	chr8:122466035-122466036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539425179	chr8:122466041-122466042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546989937	chr8:122466045-122466046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10094581	chr8:122466057-122466058	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs142838252	chr8:122466074-122466075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113683098	chr8:122466104-122466105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575390593	chr8:122466117-122466118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538051536	chr8:122466175-122466176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376872324	chr8:122466207-122466208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371478338	chr8:122466215-122466216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs578207553	chr8:122466244-122466245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562424859	chr8:122466264-122466265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545465881	chr8:122466267-122466268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs202152679	chr8:122466268-122466269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371896733	chr8:122466274-122466275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373633873	chr8:122466275-122466276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559327516	chr8:122466278-122466279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572972444	chr8:122466304-122466305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191851603	chr8:122466371-122466372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9297642	chr8:122466404-122466405	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs111634747	chr8:122466407-122466408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547243553	chr8:122466423-122466424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs9297643	chr8:122466427-122466428	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122456200-122466200	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:122461000-122466400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr8:122461000-122466600	Weak transcription	Psoas Muscle	Psoas
4	chr8:122461200-122466400	Weak transcription	Adipose Nuclei	Adipose
5	chr8:122461200-122466600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:122461200-122466600	Weak transcription	NHDF-Ad	bronchial
7	chr8:122461400-122466400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr8:122461400-122466600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:122461400-122466600	Weak transcription	Fetal Lung	lung
10	chr8:122461400-122466800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:122461400-122466800	Weak transcription	Osteobl	bone
12	chr8:122461800-122466400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:122462000-122466600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:122462000-122466800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:122463000-122466400	Weak transcription	Fetal Brain Male	brain
16	chr8:122464000-122466400	Weak transcription	Fetal Kidney	kidney
17	chr8:122465200-122466400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr8:122465600-122467800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:122465600-122468400	Enhancers	Brain Substantia Nigra	brain
20	chr8:122465600-122468800	Enhancers	Brain Germinal Matrix	brain
21	chr8:122466200-122466600	Enhancers	Brain Anterior Caudate	brain
22	chr8:122466200-122466800	Enhancers	Brain Cingulate Gyrus	brain
23	chr8:122466200-122468200	Enhancers	Fetal Muscle Leg	muscle
24	chr8:122466200-122468600	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr8:122466400-122466800	Enhancers	Brain Hippocampus Middle	brain
26	chr8:122466400-122466800	Enhancers	Hela-S3	cervix
27	chr8:122466400-122467000	Enhancers	Brain Angular Gyrus	brain
28	chr8:122466400-122467000	Enhancers	Fetal Kidney	kidney
29	chr8:122466400-122467000	Enhancers	Ovary	ovary
30	chr8:122466400-122467000	Enhancers	A549	lung
31	chr8:122466400-122467200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr8:122466400-122467200	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr8:122466400-122467200	Enhancers	Stomach Smooth Muscle	stomach
34	chr8:122466400-122467400	Enhancers	Colon Smooth Muscle	Colon
35	chr8:122466400-122467400	Enhancers	Duodenum Mucosa	Duodenum
36	chr8:122466400-122467400	Enhancers	Fetal Heart	heart
37	chr8:122466400-122467400	Enhancers	Fetal Stomach	stomach
38	chr8:122466400-122467400	Enhancers	NH-A	brain
39	chr8:122466400-122467600	Enhancers	Muscle Satellite Cultured Cells	--
40	chr8:122466400-122467600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:122466400-122467600	Enhancers	Adipose Nuclei	Adipose
42	chr8:122466400-122467600	Enhancers	Fetal Brain Male	brain
43	chr8:122466400-122467800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:122466400-122468400	Enhancers	Cortex derived primary cultured neurospheres	brain

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