Variant report

Variant	esv17605
Chromosome Location	chr8:6229691-6232076
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	chr8:6115787..6116559-chr8:6229328..6229869,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 134 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539835184	chr8:6231063-6231064	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs549878721	chr8:6231083-6231084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs569818011	chr8:6231085-6231086	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs182414370	chr8:6231113-6231114	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs112462382	chr8:6231129-6231130	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs555588158	chr8:6231133-6231134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs150063206	chr8:6231166-6231167	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs535042902	chr8:6231167-6231168	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs187411904	chr8:6231174-6231175	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs578168099	chr8:6231181-6231182	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs371064722	chr8:6231191-6231192	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs2916671	chr8:6231204-6231205	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs562429294	chr8:6231205-6231206	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576247694	chr8:6231217-6231218	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368371402	chr8:6231219-6231220	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541939963	chr8:6231235-6231236	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561889879	chr8:6231238-6231239	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113761959	chr8:6231255-6231256	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs13277924	chr8:6231256-6231257	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs547239833	chr8:6231289-6231290	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564426470	chr8:6231290-6231291	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112199554	chr8:6231294-6231295	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112394102	chr8:6231302-6231303	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533030395	chr8:6231312-6231313	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550158299	chr8:6231319-6231320	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371653254	chr8:6231331-6231332	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535581732	chr8:6231339-6231340	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549050651	chr8:6231356-6231357	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2916670	chr8:6231377-6231378	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs535244446	chr8:6231391-6231392	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558024162	chr8:6231406-6231407	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191646471	chr8:6231482-6231483	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537337508	chr8:6231483-6231484	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556244777	chr8:6231490-6231491	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576082919	chr8:6231512-6231513	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113771505	chr8:6231520-6231521	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201012719	chr8:6231528-6231529	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541978678	chr8:6231531-6231532	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183426418	chr8:6231570-6231571	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572015612	chr8:6231595-6231596	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:134)

Disease	PMID	Source
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
Prostate cancer	16573809	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
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
Myelofibrosis	22110671	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
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6231000-6231600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:6231200-6231600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:6231200-6231600	Enhancers	Pancreas	Pancrea

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