Variant report

Variant	nsv972223
Chromosome Location	chr8:116265418-116272313
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	chr8:116262983..116265572-chr8:116273633..116276447,2	MCF-7	breast:

Extended variants
information (count: 231 )
Associated
traits (count: 97 )

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	rs148530024	chr8:116265425-116265426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535222351	chr8:116265512-116265513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186933125	chr8:116265514-116265515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142891683	chr8:116265612-116265613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574954346	chr8:116265621-116265622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542093795	chr8:116265647-116265648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575755586	chr8:116265675-116265676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554640531	chr8:116265738-116265739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576105895	chr8:116265841-116265842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191321790	chr8:116265882-116265883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543397851	chr8:116265898-116265899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553108782	chr8:116265905-116265906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577179127	chr8:116265934-116265935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541307882	chr8:116265941-116265942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542797589	chr8:116265970-116265971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375072207	chr8:116266001-116266002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556353502	chr8:116266002-116266003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529887445	chr8:116266054-116266055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111895127	chr8:116266065-116266066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576409250	chr8:116266112-116266113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148920811	chr8:116266133-116266134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548130707	chr8:116266141-116266142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370818560	chr8:116266224-116266225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183191905	chr8:116266227-116266228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552118443	chr8:116266231-116266232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113700439	chr8:116266238-116266239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200028415	chr8:116266242-116266243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141101905	chr8:116266243-116266244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76792984	chr8:116266244-116266245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201053735	chr8:116266246-116266247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556962128	chr8:116266264-116266265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62511716	chr8:116266275-116266276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530688689	chr8:116266297-116266298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546874443	chr8:116266317-116266318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185407276	chr8:116266349-116266350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs151064174	chr8:116266359-116266360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557277947	chr8:116266375-116266376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576049908	chr8:116266387-116266388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537161259	chr8:116266411-116266412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188329218	chr8:116266415-116266416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142496985	chr8:116266431-116266432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189719809	chr8:116266441-116266442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561038908	chr8:116266455-116266456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144840117	chr8:116266459-116266460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574645747	chr8:116266518-116266519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116564288	chr8:116266646-116266647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563352925	chr8:116266657-116266658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73357748	chr8:116266720-116266721	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs147949602	chr8:116266767-116266768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564274971	chr8:116266787-116266788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Melanoma	18172304	CNVD
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
Breast cancer	17603634	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	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
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	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
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:116264800-116265600	Enhancers	Primary hematopoietic stem cells	blood
2	chr8:116265200-116265600	Enhancers	Dnd41	blood
3	chr8:116265200-116266800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:116265200-116266800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:116265200-116267000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:116265200-116267600	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:116265400-116267800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:116265600-116267800	Weak transcription	Dnd41	blood
9	chr8:116266800-116267200	Enhancers	Stomach Smooth Muscle	stomach
10	chr8:116266800-116268200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:116266800-116269000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr8:116267000-116267400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:116267000-116269200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:116267600-116267800	Enhancers	Colon Smooth Muscle	Colon
15	chr8:116267600-116269000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:116267800-116268400	Enhancers	HSMMtube	muscle
17	chr8:116267800-116268600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:116267800-116269000	Enhancers	Dnd41	blood
19	chr8:116267800-116269200	Enhancers	Osteobl	bone
20	chr8:116267800-116269400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:116268200-116268400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:116268200-116268600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr8:116268200-116268600	Enhancers	NH-A	brain
24	chr8:116268400-116268600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:116268400-116269000	Enhancers	NHDF-Ad	bronchial
26	chr8:116268600-116269600	Weak transcription	NH-A	brain
27	chr8:116268800-116270000	Enhancers	Hela-S3	cervix
28	chr8:116269000-116271000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:116269600-116269800	Enhancers	NH-A	brain

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