Variant report

Variant	nsv982083
Chromosome Location	chr8:120180351-120187700
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:120182916..120184889-chr8:120187238..120189541,2	MCF-7	breast:
2	chr8:120183437..120185122-chr8:120187205..120189919,2	MCF-7	breast:
3	chr8:120182916..120184889-chr8:120187238..120189541,2	MCF-7	breast:
4	chr8:120110109..120113064-chr8:120180138..120182197,2	K562	blood:
5	chr8:120168772..120171561-chr8:120180617..120182588,2	MCF-7	breast:
6	chr8:120181470..120184053-chr8:120220175..120223118,3	MCF-7	breast:
7	chr8:120183437..120185122-chr8:120187205..120189919,2	MCF-7	breast:
8	chr8:120187373..120189536-chr8:120204658..120206608,2	MCF-7	breast:
9	chr8:120183937..120185450-chr8:120190160..120192136,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147676	chromatin interactions

Extended variants
information (count: 252 )
Associated
traits (count: 143 )

Variant overlapped rSNPs/rCNVs (count:252 , 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	rs562180549	chr8:120181581-120181582	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs3083304	chr8:120181585-120181586	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs33914422	chr8:120181588-120181589	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs368676600	chr8:120181591-120181592	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs35017923	chr8:120181592-120181593	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs2326196	chr8:120181595-120181596	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs3083308	chr8:120181596-120181597	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs183636568	chr8:120181631-120181632	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs59638459	chr8:120181648-120181649	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs76909041	chr8:120181649-120181650	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs373646434	chr8:120181661-120181662	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs1549419	chr8:120181695-120181696	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs1549418	chr8:120181706-120181707	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs548867638	chr8:120181723-120181724	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs568560187	chr8:120181757-120181758	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs1549417	chr8:120181788-120181789	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs142283570	chr8:120181801-120181802	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs375885178	chr8:120181828-120181829	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs79597673	chr8:120181845-120181846	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs2875865	chr8:120181859-120181860	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs4455869	chr8:120181883-120181884	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs534425929	chr8:120181922-120181923	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs13248488	chr8:120181947-120181948	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs12680550	chr8:120181974-120181975	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs559889143	chr8:120182014-120182015	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs187013445	chr8:120182073-120182074	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs376318486	chr8:120182137-120182138	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs568134408	chr8:120182163-120182164	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs562243313	chr8:120182177-120182178	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs577225377	chr8:120182214-120182215	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs544639831	chr8:120182247-120182248	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs560409968	chr8:120182268-120182269	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs527561263	chr8:120182293-120182294	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs191857158	chr8:120182295-120182296	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs151317064	chr8:120182377-120182378	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs139750123	chr8:120182383-120182384	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs578187123	chr8:120182404-120182405	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs551140212	chr8:120182412-120182413	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs370376799	chr8:120182420-120182421	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs2468171	chr8:120182492-120182493	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs533373297	chr8:120182499-120182500	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs2468172	chr8:120182501-120182502	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs184289491	chr8:120182506-120182507	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs534260257	chr8:120182518-120182519	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs13248214	chr8:120182531-120182532	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs374605332	chr8:120182532-120182533	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs144534916	chr8:120182571-120182572	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs538004818	chr8:120182579-120182580	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs555852565	chr8:120182580-120182581	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs549444819	chr8:120182607-120182608	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:143)

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
Chronic myeloid leukemia	21384125	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120183000-120183400	Enhancers	Duodenum Mucosa	Duodenum
2	chr8:120183400-120188800	Weak transcription	Duodenum Mucosa	Duodenum

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