Variant report

Variant	nsv1018362
Chromosome Location	chr8:3763280-3811123
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:3804589..3807144-chr8:3807916..3809896,2	K562	blood:
2	chr8:3809576..3811430-chr8:3818354..3821115,2	K562	blood:
3	chr8:3804589..3807144-chr8:3807916..3809896,2	K562	blood:

Extended variants
information (count: 2214 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:2214 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113596419	chr8:3765212-3765213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs180835206	chr8:3765231-3765232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535666968	chr8:3765270-3765271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116297350	chr8:3765286-3765287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565877122	chr8:3765291-3765292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539555423	chr8:3765304-3765305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375585445	chr8:3765308-3765309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148805617	chr8:3765309-3765310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576046817	chr8:3765315-3765316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs8180892	chr8:3765324-3765325	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs142260475	chr8:3765326-3765327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574250078	chr8:3765360-3765361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115829809	chr8:3765378-3765379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78503126	chr8:3765387-3765388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185193784	chr8:3765403-3765404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs151253277	chr8:3765412-3765413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs17063173	chr8:3765414-3765415	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs564137679	chr8:3765420-3765421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190837549	chr8:3765424-3765425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371660008	chr8:3765425-3765426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181779595	chr8:3765428-3765429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374853518	chr8:3765444-3765445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559455100	chr8:3765458-3765459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562060554	chr8:3765461-3765462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529165070	chr8:3765465-3765466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200526526	chr8:3765466-3765467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565539441	chr8:3765467-3765468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539215780	chr8:3765477-3765478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374557538	chr8:3765498-3765499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139287232	chr8:3765499-3765500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569797552	chr8:3765502-3765503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537502320	chr8:3765544-3765545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186258880	chr8:3765568-3765569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144302661	chr8:3765569-3765570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75162148	chr8:3765571-3765572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553674798	chr8:3765586-3765587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2688301	chr8:3765590-3765591	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs545603367	chr8:3765592-3765593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559300624	chr8:3766602-3766603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs17067911	chr8:3766603-3766604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs3889169	chr8:3766612-3766613	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs562905858	chr8:3766625-3766626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181736222	chr8:3766643-3766644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531925673	chr8:3766656-3766657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149434592	chr8:3766657-3766658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560400465	chr8:3766668-3766669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527911085	chr8:3766686-3766687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561437972	chr8:3766712-3766713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552351835	chr8:3766727-3766728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144656125	chr8:3766737-3766738	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:128)

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
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Autism	20531469	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3765200-3765600	Enhancers	Fetal Heart	heart
2	chr8:3766600-3768800	Enhancers	Fetal Muscle Leg	muscle
3	chr8:3779200-3779600	Enhancers	Fetal Brain Male	brain
4	chr8:3791200-3791600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:3791600-3793800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:3793800-3794200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
7	chr8:3794200-3810000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:3795800-3796400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:3807200-3808200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:3807800-3808200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr8:3807800-3808200	Enhancers	Pancreas	Pancrea
12	chr8:3808200-3809600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:3809600-3810000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:3809600-3810200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:3810000-3810400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr8:3810200-3811400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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