Variant report

Variant	nsv609793
Chromosome Location	chr8:3807528-3811838
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	chr8:3809576..3811430-chr8:3818354..3821115,2	K562	blood:
2	chr8:3804589..3807144-chr8:3807916..3809896,2	K562	blood:

Extended variants
information (count: 403 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:403 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6984912	chr8:3807528-3807529	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs77577234	chr8:3807552-3807553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11786061	chr8:3807553-3807554	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs148348053	chr8:3807567-3807568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141538085	chr8:3807568-3807569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147532771	chr8:3807570-3807571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7004592	chr8:3807593-3807594	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs188004563	chr8:3807602-3807603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373412437	chr8:3807632-3807633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538010167	chr8:3807651-3807652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556408008	chr8:3807653-3807654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375156450	chr8:3807659-3807660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111291048	chr8:3807660-3807661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2627515	chr8:3807667-3807668	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs192133157	chr8:3807687-3807688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140210328	chr8:3807702-3807703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145336698	chr8:3807719-3807720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147246367	chr8:3807724-3807725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6984122	chr8:3807730-3807731	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs10780168	chr8:3807747-3807748	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs561945857	chr8:3807753-3807754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529489665	chr8:3807754-3807755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75478922	chr8:3807756-3807757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111951547	chr8:3807776-3807777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184682213	chr8:3807779-3807780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139735088	chr8:3807784-3807785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570017810	chr8:3807795-3807796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188688458	chr8:3807797-3807798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17401217	chr8:3807818-3807819	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs2740866	chr8:3807826-3807827	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
31	rs535682168	chr8:3807853-3807854	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs149796341	chr8:3807855-3807856	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs11136684	chr8:3807861-3807862	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs539032746	chr8:3807877-3807878	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs2627514	chr8:3807907-3807908	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs11136685	chr8:3807919-3807920	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs2740865	chr8:3807943-3807944	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs555079993	chr8:3807946-3807947	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs79161602	chr8:3807959-3807960	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs552792847	chr8:3807963-3807964	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs538982565	chr8:3807965-3807966	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs541638049	chr8:3807970-3807971	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs367626261	chr8:3807976-3807977	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs533692844	chr8:3807986-3807987	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs545033435	chr8:3807994-3807995	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs192529193	chr8:3807999-3808000	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs530969244	chr8:3808002-3808003	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs756094	chr8:3808005-3808006	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs374484956	chr8:3808008-3808009	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs371679085	chr8:3808015-3808016	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

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
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
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
Colorectal cancer	16774939	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3794200-3810000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:3807200-3808200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:3807800-3808200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr8:3807800-3808200	Enhancers	Pancreas	Pancrea
5	chr8:3808200-3809600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:3809600-3810000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:3809600-3810200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:3810000-3810400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr8:3810200-3811400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:3811200-3811600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:3811400-3811600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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