Variant report

Variant	esv2422350
Chromosome Location	chr8:47378467-47443588
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	chr8:47152207..47152786-chr8:47399264..47399945,2	MCF-7	breast:
2	chr8:46850638..46851140-chr8:47405865..47406365,2	MCF-7	breast:

Extended variants
information (count: 3207 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:3207 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530364588	chr8:47378468-47378469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs550443404	chr8:47378490-47378491	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs182037319	chr8:47378511-47378512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs28830521	chr8:47378516-47378517	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs552263761	chr8:47378533-47378534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs565803253	chr8:47378551-47378552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs534719444	chr8:47378639-47378640	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs114679152	chr8:47378669-47378670	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs558305878	chr8:47378681-47378682	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs568426979	chr8:47378709-47378710	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs202016345	chr8:47378761-47378762	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs557217350	chr8:47378783-47378784	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs142129347	chr8:47378797-47378798	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs369802547	chr8:47378843-47378844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs185841149	chr8:47378847-47378848	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs545978751	chr8:47378851-47378852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs370151700	chr8:47378884-47378885	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs372822765	chr8:47378886-47378887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs532482805	chr8:47378909-47378910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs572943999	chr8:47378912-47378913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs190093024	chr8:47378956-47378957	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs181732599	chr8:47378957-47378958	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs377279006	chr8:47378966-47378967	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs78671056	chr8:47378970-47378971	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs199840613	chr8:47378982-47378983	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs543763970	chr8:47378993-47378994	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs138708654	chr8:47378998-47378999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs149252421	chr8:47379006-47379007	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs186405992	chr8:47379008-47379009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs543517255	chr8:47379043-47379044	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs559500341	chr8:47379047-47379048	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs143437873	chr8:47379062-47379063	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs569257162	chr8:47379065-47379066	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs548652217	chr8:47379115-47379116	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs191249309	chr8:47379120-47379121	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs537405304	chr8:47379122-47379123	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs182242355	chr8:47379131-47379132	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs185418537	chr8:47379151-47379152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs191019251	chr8:47379169-47379170	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs148387567	chr8:47379194-47379195	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs553230419	chr8:47379202-47379203	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs201183081	chr8:47379203-47379204	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs573067934	chr8:47379206-47379207	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs373253609	chr8:47379265-47379266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs377168416	chr8:47379267-47379268	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs141574911	chr8:47379271-47379272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs575144032	chr8:47379318-47379319	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs529484105	chr8:47379331-47379332	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs544160926	chr8:47379339-47379340	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs76752055	chr8:47379340-47379341	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
Oral cancer	21386901	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	20409316	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47372000-47379600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:47372600-47380800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr8:47379600-47381000	ZNF genes & repeats	Liver	Liver
4	chr8:47381600-47382200	ZNF genes & repeats	Liver	Liver
5	chr8:47382000-47394000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:47382400-47386000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr8:47383200-47391800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr8:47383800-47390200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr8:47384600-47393000	ZNF genes & repeats	Liver	Liver
10	chr8:47385200-47386000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr8:47387200-47387800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:47393000-47395400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
13	chr8:47396600-47398600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
14	chr8:47397800-47398400	Active TSS	Fetal Heart	heart
15	chr8:47407000-47408600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr8:47409000-47427000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:47412600-47424200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr8:47412600-47424800	ZNF genes & repeats	Liver	Liver
19	chr8:47414600-47418200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
20	chr8:47416000-47425400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr8:47416800-47419600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr8:47424200-47425200	ZNF genes & repeats	Adipose Nuclei	Adipose
23	chr8:47428600-47429200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
24	chr8:47429400-47434600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
25	chr8:47429400-47436600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:47437000-47440600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr8:47441200-47454400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:47443000-47444800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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