Variant report

Variant	nsv1031976
Chromosome Location	chr8:112556471-112591382
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:112570236..112571107-chr8:139584283..139585016,2	MCF-7	breast:
2	chr8:112561052..112562682-chr8:112563214..112564772,2	MCF-7	breast:
3	chr8:112561052..112562682-chr8:112563214..112564772,2	MCF-7	breast:

Extended variants
information (count: 257 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4876699	chr8:112556471-112556472	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570678974	chr8:112556489-112556490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539778840	chr8:112556497-112556498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138463038	chr8:112556529-112556530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572121294	chr8:112556542-112556543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4876700	chr8:112556564-112556565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs541433178	chr8:112556594-112556595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs16882142	chr8:112556606-112556607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs544128147	chr8:112556610-112556611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115969349	chr8:112556644-112556645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146049601	chr8:112556652-112556653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367580097	chr8:112556654-112556655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2217375	chr8:112556687-112556688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35065390	chr8:112556698-112556699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564159086	chr8:112556699-112556700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376459196	chr8:112556723-112556724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563577386	chr8:112556824-112556825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563568902	chr8:112556835-112556836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529163590	chr8:112556841-112556842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11782719	chr8:112556843-112556844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200597170	chr8:112556853-112556854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs3028839	chr8:112556882-112556883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62520418	chr8:112556969-112556970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548297040	chr8:112557008-112557009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568416805	chr8:112557021-112557022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149260867	chr8:112557022-112557023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547855648	chr8:112557058-112557059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs16882144	chr8:112557072-112557073	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs370651187	chr8:112557095-112557096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559315127	chr8:112557096-112557097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183070934	chr8:112557098-112557099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35892814	chr8:112557116-112557117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71923512	chr8:112557118-112557119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539642922	chr8:112557120-112557121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556297732	chr8:112557167-112557168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570016485	chr8:112557168-112557169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs996641	chr8:112557211-112557212	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs555082535	chr8:112557215-112557216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571990746	chr8:112557287-112557288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540794701	chr8:112557312-112557313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186345846	chr8:112557409-112557410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11997164	chr8:112557452-112557453	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs146941375	chr8:112557454-112557455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11990106	chr8:112557497-112557498	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs75718304	chr8:112557515-112557516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs137905033	chr8:112557557-112557558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs78756577	chr8:112557565-112557566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561974876	chr8:112557571-112557572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144125139	chr8:112557576-112557577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547623305	chr8:112557580-112557581	Weak transcription Enhancers	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
Cancer	20164919	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
Sezary syndrome	18413736	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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:112552800-112557800	Weak transcription	Adipose Nuclei	Adipose
2	chr8:112557200-112558800	Enhancers	Fetal Lung	lung
3	chr8:112557800-112558400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:112557800-112558600	Strong transcription	Adipose Nuclei	Adipose
5	chr8:112558600-112560200	Weak transcription	Adipose Nuclei	Adipose
6	chr8:112575200-112577600	Enhancers	Liver	Liver
7	chr8:112575800-112578400	Enhancers	HepG2	liver
8	chr8:112578200-112578400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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