Variant report

Variant	nsv1030556
Chromosome Location	chr8:47398246-47454051
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	chr8:46850638..46851140-chr8:47405865..47406365,2	MCF-7	breast:
2	chr8:47152207..47152786-chr8:47399264..47399945,2	MCF-7	breast:

Extended variants
information (count: 2670 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:2670 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116043425	chr8:47398248-47398249	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs144869615	chr8:47398264-47398265	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs552272878	chr8:47398270-47398271	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs565758596	chr8:47398286-47398287	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs147930212	chr8:47398323-47398324	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs554540223	chr8:47398341-47398342	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs548620031	chr8:47398343-47398344	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs140529476	chr8:47398357-47398358	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs182029369	chr8:47398362-47398363	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs185828967	chr8:47398379-47398380	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs576193527	chr8:47398383-47398384	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs116333322	chr8:47398411-47398412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs34715085	chr8:47398429-47398430	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs572489545	chr8:47398431-47398432	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs541107542	chr8:47398459-47398460	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs181728356	chr8:47398464-47398465	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs186370470	chr8:47398480-47398481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs191325855	chr8:47398496-47398497	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs563493944	chr8:47398500-47398501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs180809398	chr8:47398507-47398508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs558180915	chr8:47398515-47398516	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs568617783	chr8:47398534-47398535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs186142222	chr8:47398542-47398543	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs371531753	chr8:47398570-47398571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs562007815	chr8:47398580-47398581	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs565677991	chr8:47398583-47398584	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs537413925	chr8:47398589-47398590	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs370113170	chr8:47407010-47407011	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs183025360	chr8:47407034-47407035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs187643322	chr8:47407058-47407059	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs200984332	chr8:47407069-47407070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs149995074	chr8:47407078-47407079	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs374879369	chr8:47407121-47407122	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs556871669	chr8:47407125-47407126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs145194899	chr8:47407136-47407137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs192188798	chr8:47407159-47407160	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs183983197	chr8:47407163-47407164	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs368441697	chr8:47407223-47407224	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs545559634	chr8:47407227-47407228	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs201837715	chr8:47407243-47407244	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs558997978	chr8:47407254-47407255	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs200271886	chr8:47407263-47407264	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs189926594	chr8:47407305-47407306	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs112226851	chr8:47407310-47407311	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs549305120	chr8:47407311-47407312	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs192187890	chr8:47407326-47407327	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs561250033	chr8:47407350-47407351	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs372365339	chr8:47407364-47407365	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs184595456	chr8:47407367-47407368	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs148705719	chr8:47407409-47407410	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47396600-47398600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr8:47397800-47398400	Active TSS	Fetal Heart	heart
3	chr8:47407000-47408600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr8:47409000-47427000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:47412600-47424200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr8:47412600-47424800	ZNF genes & repeats	Liver	Liver
7	chr8:47414600-47418200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr8:47416000-47425400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr8:47416800-47419600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr8:47424200-47425200	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr8:47428600-47429200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr8:47429400-47434600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr8:47429400-47436600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:47437000-47440600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr8:47441200-47454400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:47443000-47444800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
17	chr8:47446000-47448200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
18	chr8:47446200-47447400	Active TSS	Fetal Heart	heart
19	chr8:47453400-47456600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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