Variant report

Variant	nsv1018423
Chromosome Location	chr8:4741805-4759133
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 487 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:487 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150364680	chr8:4747809-4747810	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs7845668	chr8:4747811-4747812	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs138086011	chr8:4747815-4747816	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs188056375	chr8:4747844-4747845	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs191400178	chr8:4747851-4747852	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs62484653	chr8:4747857-4747858	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs74492192	chr8:4747880-4747881	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs552055636	chr8:4747897-4747898	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs183646636	chr8:4747927-4747928	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs542278228	chr8:4747940-4747941	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs187918475	chr8:4747950-4747951	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs528206214	chr8:4747958-4747959	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs540313993	chr8:4747959-4747960	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs114969135	chr8:4747963-4747964	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs532177066	chr8:4747967-4747968	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs192438407	chr8:4747978-4747979	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs112781730	chr8:4748014-4748015	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs185336700	chr8:4748022-4748023	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs549138780	chr8:4748033-4748034	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs189915168	chr8:4748040-4748041	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs114473594	chr8:4748043-4748044	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs547115798	chr8:4748046-4748047	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs571723806	chr8:4748069-4748070	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs149468535	chr8:4748074-4748075	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs557558912	chr8:4748075-4748076	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs575875258	chr8:4748095-4748096	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs536933660	chr8:4748102-4748103	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs554306171	chr8:4748114-4748115	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs192965123	chr8:4748116-4748117	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs539796506	chr8:4748135-4748136	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs564647561	chr8:4748137-4748138	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs115039012	chr8:4748158-4748159	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs544025050	chr8:4748159-4748160	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs143019731	chr8:4748165-4748166	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs529979009	chr8:4748172-4748173	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs548455387	chr8:4748175-4748176	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs561175513	chr8:4748185-4748186	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs528492777	chr8:4748186-4748187	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs200497390	chr8:4748208-4748209	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs565307099	chr8:4748239-4748240	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs184743728	chr8:4748240-4748241	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs7842795	chr8:4748251-4748252	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs551228431	chr8:4748252-4748253	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs569420787	chr8:4748253-4748254	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs188308208	chr8:4748274-4748275	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs555246416	chr8:4748275-4748276	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs573416536	chr8:4748279-4748280	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs547810552	chr8:4748298-4748299	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs558103407	chr8:4748301-4748302	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs138611478	chr8:4748305-4748306	Enhancers ZNF genes & repeats	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
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
Breast cancer	21364760	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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4747800-4748200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:4747800-4748200	ZNF genes & repeats	Pancreas	Pancrea
3	chr8:4747800-4748400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:4747800-4748400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:4748000-4748200	Enhancers	Esophagus	oesophagus
6	chr8:4748000-4748600	Enhancers	Duodenum Mucosa	Duodenum
7	chr8:4749600-4751400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:4749800-4751600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr8:4750600-4751600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr8:4751000-4751400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr8:4751400-4753600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr8:4751600-4754000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr8:4753400-4753800	Enhancers	Fetal Intestine Small	intestine
14	chr8:4753600-4754200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr8:4754000-4754600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr8:4754000-4754600	Active TSS	Duodenum Mucosa	Duodenum
17	chr8:4754000-4755000	Active TSS	Fetal Intestine Large	intestine
18	chr8:4754000-4755000	Active TSS	Fetal Intestine Small	intestine
19	chr8:4754200-4754800	Active TSS	Liver	Liver

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