Variant report

Variant	nsv889849
Chromosome Location	chr8:2294367-2337094
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:2272993..2274539-chr8:2309793..2312114,2	K562	blood:
2	chr8:2308369..2308915-chr8:2671740..2672327,2	MCF-7	breast:
3	chr8:2241044..2242062-chr8:2308231..2309386,4	MCF-7	breast:
4	chr8:2241113..2241844-chr8:2312263..2313095,3	MCF-7	breast:
5	chr8:2314242..2315996-chr8:2321501..2323245,2	K562	blood:
6	chr8:2034544..2035110-chr8:2312572..2313377,2	MCF-7	breast:
7	chr8:2314242..2315996-chr8:2321501..2323245,2	K562	blood:

Extended variants
information (count: 935 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:935 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17079175	chr8:2294367-2294368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs66502377	chr8:2294390-2294391	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs576576168	chr8:2294397-2294398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138408792	chr8:2294413-2294414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371973304	chr8:2294424-2294425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540961305	chr8:2294433-2294434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560264715	chr8:2294450-2294451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529337564	chr8:2294451-2294452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76072962	chr8:2294459-2294460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191984994	chr8:2294461-2294462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs36101830	chr8:2294465-2294466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34266866	chr8:2294477-2294478	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs375509591	chr8:2294496-2294497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551187046	chr8:2294522-2294523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570418954	chr8:2294587-2294588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571176061	chr8:2294603-2294604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76745216	chr8:2294612-2294613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554065761	chr8:2294638-2294639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377700224	chr8:2294642-2294643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183882029	chr8:2294644-2294645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540485935	chr8:2294649-2294650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562281111	chr8:2294653-2294654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199526806	chr8:2294659-2294660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185266191	chr8:2294710-2294711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150623837	chr8:2294755-2294756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578231632	chr8:2294764-2294765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540922838	chr8:2294772-2294773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560883532	chr8:2294783-2294784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529443617	chr8:2294787-2294788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539542096	chr8:2294788-2294789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7007817	chr8:2294789-2294790	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs572687054	chr8:2294803-2294804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541665958	chr8:2294862-2294863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189687036	chr8:2294878-2294879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114403854	chr8:2294899-2294900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4997872	chr8:2294906-2294907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs575182529	chr8:2294961-2294962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373648093	chr8:2294978-2294979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368039083	chr8:2294979-2294980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370604690	chr8:2294980-2294981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564524322	chr8:2295009-2295010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564719122	chr8:2295036-2295037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139977500	chr8:2295042-2295043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149442785	chr8:2295052-2295053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567552812	chr8:2295060-2295061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77268552	chr8:2295073-2295074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182657347	chr8:2295094-2295095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111921363	chr8:2295100-2295101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569702987	chr8:2295130-2295131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186930962	chr8:2295131-2295132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:123)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	19805367	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2283200-2296200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:2296000-2296600	ZNF genes & repeats	Pancreas	Pancrea
3	chr8:2296000-2296800	ZNF genes & repeats	Gastric	stomach
4	chr8:2296200-2296800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:2306800-2307000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:2306800-2307000	Enhancers	Fetal Thymus	thymus
7	chr8:2307600-2307800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:2307800-2308200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr8:2307800-2308600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:2308000-2308400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:2308000-2308400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr8:2308000-2308400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr8:2308000-2308400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr8:2308000-2308400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr8:2308600-2312200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:2309200-2309400	Enhancers	Fetal Brain Male	brain
17	chr8:2309400-2311600	Weak transcription	Fetal Brain Male	brain
18	chr8:2311000-2311800	Enhancers	Fetal Heart	heart
19	chr8:2311600-2311800	Enhancers	Fetal Brain Male	brain
20	chr8:2311800-2312400	Weak transcription	Fetal Brain Male	brain
21	chr8:2312000-2312400	Enhancers	Pancreas	Pancrea
22	chr8:2312400-2313200	Enhancers	Fetal Brain Male	brain
23	chr8:2312400-2314800	Weak transcription	Pancreas	Pancrea
24	chr8:2319200-2319400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr8:2319200-2320400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr8:2319200-2320800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr8:2319400-2319800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr8:2319600-2320400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr8:2319800-2320800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr8:2320800-2321000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr8:2337000-2337600	Enhancers	Fetal Thymus	thymus

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