Variant report

Variant	esv21259
Chromosome Location	chr8:46954213-46992148
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	chr8:46948914..46951388-chr8:46959571..46961840,2	K562	blood:
2	chr10:42530427..42532590-chr8:46977725..46979226,2	MCF-7	breast:

Extended variants
information (count: 1398 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1398 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147171939	chr8:46957403-46957404	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs371797970	chr8:46957427-46957428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs577218408	chr8:46957452-46957453	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs546322243	chr8:46957453-46957454	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs140353087	chr8:46957454-46957455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs182329135	chr8:46957482-46957483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs570789173	chr8:46957491-46957492	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs565466916	chr8:46957536-46957537	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs562529736	chr8:46957555-46957556	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs186063297	chr8:46957630-46957631	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs561289547	chr8:46957636-46957637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs149669332	chr8:46957645-46957646	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs550015992	chr8:46957650-46957651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs111808573	chr8:46957660-46957661	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs570128738	chr8:46957665-46957666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs531625654	chr8:46957722-46957723	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs552328311	chr8:46957813-46957814	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs376241175	chr8:46957859-46957860	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs113791605	chr8:46957921-46957922	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs565700694	chr8:46957936-46957937	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs534623469	chr8:46957945-46957946	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs140749140	chr8:46957946-46957947	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs144911472	chr8:46957952-46957953	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs147480138	chr8:46957955-46957956	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs142431043	chr8:46957958-46957959	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs371366327	chr8:46957973-46957974	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs189207535	chr8:46957993-46957994	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs574100521	chr8:46958027-46958028	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs373987519	chr8:46958030-46958031	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs142447328	chr8:46958042-46958043	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs576849722	chr8:46958066-46958067	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs562012402	chr8:46958087-46958088	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs545305105	chr8:46958094-46958095	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs78365492	chr8:46958101-46958102	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs565492346	chr8:46958102-46958103	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs79634001	chr8:46958137-46958138	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs151309806	chr8:46958140-46958141	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs373449839	chr8:46958179-46958180	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs575201989	chr8:46958185-46958186	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs181188322	chr8:46958190-46958191	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs530161189	chr8:46958209-46958210	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs76338347	chr8:46958214-46958215	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs563661237	chr8:46958224-46958225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs4642663	chr8:46958225-46958226	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs552359480	chr8:46958226-46958227	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs565539591	chr8:46958265-46958266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs559622615	chr8:46958298-46958299	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs185603714	chr8:46958312-46958313	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs202033945	chr8:46958383-46958384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs35428095	chr8:46958397-46958398	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Acute myeloid leukemia	20729466	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	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
Schizophrenia	20967226	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:46957400-46958800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:46957800-46958200	Active TSS	Fetal Brain Male	brain
3	chr8:46958000-46958200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr8:46958000-46958400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:46958000-46958400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
6	chr8:46961000-46969000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:46962000-46963000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr8:46966600-46967400	ZNF genes & repeats	Liver	Liver
9	chr8:46967400-46969200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr8:46971000-46974800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:46973600-46977400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr8:46976600-46977200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
13	chr8:46979800-46990200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:46980600-46981800	Active TSS	Right Atrium	heart
15	chr8:46980800-46981200	ZNF genes & repeats	Liver	Liver
16	chr8:46980800-46981600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
17	chr8:46981000-46981200	ZNF genes & repeats	Left Ventricle	heart

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