Variant report

Variant	nsv1017835
Chromosome Location	chr8:47384963-47454051
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: 3397 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:3397 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10094715	chr8:47384963-47384964	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs376303161	chr8:47384966-47384967	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs547286273	chr8:47384975-47384976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs190325678	chr8:47385008-47385009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs536124092	chr8:47385009-47385010	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs182970524	chr8:47385036-47385037	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs140827863	chr8:47385037-47385038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs538346512	chr8:47385068-47385069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs558243747	chr8:47385072-47385073	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs4397418	chr8:47385092-47385093	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs540239215	chr8:47385099-47385100	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs533661667	chr8:47385105-47385106	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs550247309	chr8:47385136-47385137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs186884114	chr8:47385137-47385138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs529398553	chr8:47385141-47385142	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs573888220	chr8:47385152-47385153	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs542897370	chr8:47385154-47385155	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs190244047	chr8:47385169-47385170	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs531354769	chr8:47385180-47385181	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs544710558	chr8:47385200-47385201	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs564604269	chr8:47385212-47385213	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs182751109	chr8:47385223-47385224	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs547104687	chr8:47385258-47385259	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs567237377	chr8:47385315-47385316	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs529606615	chr8:47385326-47385327	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs187766078	chr8:47385353-47385354	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs193243100	chr8:47385359-47385360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs538407919	chr8:47385378-47385379	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs370007329	chr8:47385386-47385387	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs558307456	chr8:47385390-47385391	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs571680708	chr8:47385398-47385399	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs534285446	chr8:47385405-47385406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs553921307	chr8:47385435-47385436	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs35775726	chr8:47385475-47385476	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs144596050	chr8:47385476-47385477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs542514188	chr8:47385520-47385521	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs555997489	chr8:47385524-47385525	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs575847781	chr8:47385525-47385526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs138497284	chr8:47385569-47385570	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs565068648	chr8:47385576-47385577	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs572686041	chr8:47385603-47385604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs543400043	chr8:47385604-47385605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs542931698	chr8:47385610-47385611	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs541119260	chr8:47385623-47385624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs141421053	chr8:47385624-47385625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs35911784	chr8:47385640-47385641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs529651533	chr8:47385676-47385677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs563296263	chr8:47385688-47385689	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs183669982	chr8:47385765-47385766	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs373363937	chr8:47385771-47385772	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47382000-47394000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:47382400-47386000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr8:47383200-47391800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr8:47383800-47390200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr8:47384600-47393000	ZNF genes & repeats	Liver	Liver
6	chr8:47385200-47386000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr8:47387200-47387800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:47393000-47395400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr8:47396600-47398600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr8:47397800-47398400	Active TSS	Fetal Heart	heart
11	chr8:47407000-47408600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr8:47409000-47427000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:47412600-47424200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr8:47412600-47424800	ZNF genes & repeats	Liver	Liver
15	chr8:47414600-47418200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
16	chr8:47416000-47425400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
17	chr8:47416800-47419600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr8:47424200-47425200	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr8:47428600-47429200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr8:47429400-47434600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
21	chr8:47429400-47436600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:47437000-47440600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr8:47441200-47454400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:47443000-47444800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
25	chr8:47446000-47448200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
26	chr8:47446200-47447400	Active TSS	Fetal Heart	heart
27	chr8:47453400-47456600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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