Variant report

Variant	esv3420928
Chromosome Location	chr8:1609045-1613243
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 253 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150367572	chr8:1609073-1609074	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567177378	chr8:1609074-1609075	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79046058	chr8:1609077-1609078	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184565537	chr8:1609084-1609085	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575684540	chr8:1609090-1609091	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189803971	chr8:1609091-1609092	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142691541	chr8:1609099-1609100	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145994973	chr8:1609118-1609119	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74439131	chr8:1609132-1609133	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574376521	chr8:1609140-1609141	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542677892	chr8:1609163-1609164	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112783348	chr8:1609211-1609212	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531180178	chr8:1609228-1609229	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551470634	chr8:1609238-1609239	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564788640	chr8:1609269-1609270	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142846712	chr8:1609275-1609276	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4436150	chr8:1609285-1609286	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12114075	chr8:1609314-1609315	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs567265336	chr8:1609324-1609325	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144287045	chr8:1609343-1609344	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544605437	chr8:1609368-1609369	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549140826	chr8:1609398-1609399	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569259379	chr8:1609402-1609403	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs537808097	chr8:1609407-1609408	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs558233072	chr8:1609419-1609420	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs181690785	chr8:1609420-1609421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs534433349	chr8:1609430-1609431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs115565693	chr8:1609431-1609432	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs574412206	chr8:1609448-1609449	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs148706068	chr8:1609455-1609456	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs556545227	chr8:1609457-1609458	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs575998559	chr8:1609474-1609475	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs533085139	chr8:1609488-1609489	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs544631544	chr8:1609520-1609521	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs184259181	chr8:1609522-1609523	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs371268418	chr8:1609526-1609527	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs200822941	chr8:1609548-1609549	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs201167174	chr8:1609549-1609550	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs142285350	chr8:1609556-1609557	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs560728628	chr8:1609608-1609609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs529814410	chr8:1609609-1609610	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs550066640	chr8:1609618-1609619	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs73672909	chr8:1609661-1609662	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs531775575	chr8:1609671-1609672	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs533754798	chr8:1609702-1609703	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs551474119	chr8:1609709-1609710	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs571802150	chr8:1609734-1609735	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs189449797	chr8:1609777-1609778	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs181764744	chr8:1609798-1609799	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs554279004	chr8:1609832-1609833	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	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
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	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
Breast cancer	21364760	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
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1606000-1609200	Weak transcription	Right Atrium	heart
2	chr8:1606400-1609200	Weak transcription	Fetal Heart	heart
3	chr8:1607200-1609400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:1609000-1609600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr8:1609000-1610200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr8:1609200-1609600	ZNF genes & repeats	Right Atrium	heart
7	chr8:1609400-1609800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
8	chr8:1610800-1611400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:1610800-1611400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:1610800-1611400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
11	chr8:1610800-1611600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:1611000-1611400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:1611000-1611400	ZNF genes & repeats	Fetal Kidney	kidney
14	chr8:1611000-1620800	Weak transcription	Right Atrium	heart
15	chr8:1611400-1611600	Weak transcription	Fetal Kidney	kidney
16	chr8:1611400-1612200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:1611400-1620800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:1611600-1611800	Enhancers	Fetal Kidney	kidney
19	chr8:1611600-1612200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:1612200-1612600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:1612200-1612600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:1612600-1616000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:1612600-1619200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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