Variant report

Variant	nsv512044
Chromosome Location	chr8:47284015-47360469
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	chr19:35614212..35616054-chr8:47337776..47339296,2	MCF-7	breast:
2	chr2:86830620..86831120-chr8:47284541..47285069,2	MCF-7	breast:

Extended variants
information (count: 4507 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:4507 , 50 per page) page: 1 2 3 4 5 6 7 ... 91

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188572665	chr8:47285628-47285629	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs372908268	chr8:47285638-47285639	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs558553562	chr8:47285654-47285655	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs539062519	chr8:47285662-47285663	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs113450169	chr8:47285663-47285664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs549642762	chr8:47285686-47285687	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs569660876	chr8:47285730-47285731	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs192235086	chr8:47285792-47285793	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs10282868	chr8:47285799-47285800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs571453031	chr8:47285816-47285817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs73574546	chr8:47285829-47285830	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs545320986	chr8:47285844-47285845	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs565410713	chr8:47285845-47285846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs572614861	chr8:47285856-47285857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs541224053	chr8:47285865-47285866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs538626071	chr8:47285886-47285887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs184387634	chr8:47285888-47285889	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs186898237	chr8:47285903-47285904	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs371743880	chr8:47285905-47285906	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs553781803	chr8:47285920-47285921	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs535281352	chr8:47285924-47285925	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs563704886	chr8:47286003-47286004	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs10282942	chr8:47286008-47286009	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs371939416	chr8:47286009-47286010	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs552463034	chr8:47286018-47286019	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs565797950	chr8:47286028-47286029	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs565952558	chr8:47286060-47286061	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs149036275	chr8:47286087-47286088	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs548132802	chr8:47286095-47286096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs567905085	chr8:47286103-47286104	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs536784559	chr8:47286111-47286112	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs556617239	chr8:47286164-47286165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs576451511	chr8:47286170-47286171	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs536516453	chr8:47286171-47286172	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs554567969	chr8:47286193-47286194	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs559211278	chr8:47286248-47286249	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs113142994	chr8:47286277-47286278	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs541706286	chr8:47286306-47286307	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs10283174	chr8:47286322-47286323	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs369295893	chr8:47286324-47286325	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs575068466	chr8:47286327-47286328	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs543958857	chr8:47286334-47286335	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs563739980	chr8:47286379-47286380	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs143010566	chr8:47286388-47286389	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs552242904	chr8:47286390-47286391	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs535087970	chr8:47286405-47286406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs559695921	chr8:47286416-47286417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs528416837	chr8:47286425-47286426	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs117710069	chr8:47286447-47286448	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs371363179	chr8:47286449-47286450	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Autism	20841430	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47285600-47286800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
2	chr8:47285600-47287000	ZNF genes & repeats	Fetal Stomach	stomach
3	chr8:47285600-47288400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
4	chr8:47286000-47286200	ZNF genes & repeats	Fetal Brain Female	brain
5	chr8:47286200-47302000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:47287200-47287400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
7	chr8:47287600-47288200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr8:47290400-47290600	ZNF genes & repeats	Brain Germinal Matrix	brain
9	chr8:47291200-47297200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:47292200-47294200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
11	chr8:47292600-47297400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:47294600-47294800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:47295200-47295400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:47296200-47296400	ZNF genes & repeats	Fetal Brain Female	brain
15	chr8:47298200-47298800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
16	chr8:47299600-47300600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:47303800-47307600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
18	chr8:47305600-47306000	Active TSS	Right Atrium	heart
19	chr8:47306600-47308800	ZNF genes & repeats	Adipose Nuclei	Adipose
20	chr8:47307400-47308800	Active TSS	Aorta	Aorta
21	chr8:47308000-47309600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:47308400-47309600	ZNF genes & repeats	Liver	Liver
23	chr8:47310400-47313600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
24	chr8:47313000-47360600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:47313400-47334000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:47317600-47317800	ZNF genes & repeats	Fetal Intestine Small	intestine
27	chr8:47319000-47326800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:47319800-47321400	ZNF genes & repeats	Placenta	Placenta
29	chr8:47324600-47326600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
30	chr8:47326600-47327600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr8:47327600-47329600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr8:47329600-47332200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr8:47331200-47331600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:47331200-47331800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:47331800-47332400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:47332200-47334200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr8:47333800-47338000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:47334200-47334800	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr8:47334600-47334800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:47335000-47335200	ZNF genes & repeats	Brain Germinal Matrix	brain
41	chr8:47336000-47336600	Active TSS	Fetal Heart	heart
42	chr8:47338600-47340400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr8:47341400-47341600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:47344800-47345600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:47346000-47347600	ZNF genes & repeats	Fetal Stomach	stomach
46	chr8:47347600-47348800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr8:47354200-47358000	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr8:47355800-47357600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:47356000-47358000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin

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