Variant report

Variant	nsv520737
Chromosome Location	chr8:2809497-2825250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:2822063..2824754-chr8:2827562..2829659,2	K562	blood:
2	chr8:2807090..2809618-chr8:2810131..2812538,2	K562	blood:
3	chr8:2807090..2809618-chr8:2810131..2812538,2	K562	blood:

Extended variants
information (count: 920 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:920 , 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	rs653808	chr8:2809497-2809498	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78749193	chr8:2809511-2809512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs578025918	chr8:2809512-2809513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs595834	chr8:2809544-2809545	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs75489285	chr8:2809556-2809557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575668431	chr8:2809557-2809558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544483948	chr8:2809570-2809571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11993031	chr8:2809581-2809582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs186971090	chr8:2809584-2809585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191454092	chr8:2809596-2809597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs596303	chr8:2809623-2809624	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs529402858	chr8:2809636-2809637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549243268	chr8:2809652-2809653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569252566	chr8:2809662-2809663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534967326	chr8:2809683-2809684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531785044	chr8:2809723-2809724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184153478	chr8:2809724-2809725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571575024	chr8:2809750-2809751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369132688	chr8:2809770-2809771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139173502	chr8:2809786-2809787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11782820	chr8:2809792-2809793	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs143095946	chr8:2809804-2809805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs596891	chr8:2809814-2809815	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs575631835	chr8:2809831-2809832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544612260	chr8:2809832-2809833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73499045	chr8:2809846-2809847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs144688205	chr8:2809854-2809855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369426901	chr8:2809858-2809859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs655524	chr8:2809860-2809861	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs560720626	chr8:2809915-2809916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576176988	chr8:2809930-2809931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543104183	chr8:2809967-2809968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189859076	chr8:2809973-2809974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531698825	chr8:2809983-2809984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148501079	chr8:2810050-2810051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565150964	chr8:2810081-2810082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527601107	chr8:2810086-2810087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547411362	chr8:2810099-2810100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142978988	chr8:2810104-2810105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150702732	chr8:2810108-2810109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140178333	chr8:2810113-2810114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569413173	chr8:2810132-2810133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538216333	chr8:2810134-2810135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540057170	chr8:2810136-2810137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182179062	chr8:2810153-2810154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571979001	chr8:2810204-2810205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77760652	chr8:2810211-2810212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35814779	chr8:2810212-2810213	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs554214360	chr8:2810213-2810214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574167644	chr8:2810234-2810235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

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	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	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	19805367	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2792800-2842800	Weak transcription	K562	blood
2	chr8:2800600-2836800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:2804200-2812600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:2810200-2810600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:2811200-2836800	Weak transcription	Brain Anterior Caudate	brain
6	chr8:2811800-2836800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr8:2812400-2813200	Enhancers	H9 Cell Line	embryonic stem cell
8	chr8:2812400-2853000	Weak transcription	Brain Angular Gyrus	brain
9	chr8:2812600-2813200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:2813200-2819600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:2815200-2816600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:2815200-2816800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:2815800-2816000	Enhancers	Fetal Muscle Leg	muscle
14	chr8:2816600-2816800	Enhancers	Fetal Muscle Leg	muscle
15	chr8:2819600-2820800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr8:2820400-2824000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr8:2820800-2832600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:2823600-2824400	Enhancers	Fetal Muscle Leg	muscle
19	chr8:2824000-2824400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr8:2824000-2824400	Enhancers	Fetal Muscle Trunk	muscle
21	chr8:2824200-2825600	Enhancers	Brain Germinal Matrix	brain
22	chr8:2824600-2825000	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr8:2824800-2825000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr8:2825000-2836600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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