Variant report

Variant	esv3383421
Chromosome Location	chr8:50489448-50522546
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	chr8:50464568..50466500-chr8:50489382..50491798,2	MCF-7	breast:
2	chr8:50521960..50524416-chr8:50526468..50529383,2	MCF-7	breast:

Extended variants
information (count: 235 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:235 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549988906	chr8:50494724-50494725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2926099	chr8:50494804-50494805	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs2956841	chr8:50494851-50494852	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs2956840	chr8:50494853-50494854	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs551898832	chr8:50494884-50494885	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs529404909	chr8:50494935-50494936	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs116777275	chr8:50494938-50494939	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs566074733	chr8:50494955-50494956	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs184388192	chr8:50494972-50494973	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs2960475	chr8:50494990-50494991	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs2960474	chr8:50495002-50495003	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs567019931	chr8:50495007-50495008	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs369668682	chr8:50495036-50495037	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs556410178	chr8:50495048-50495049	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs2956839	chr8:50495054-50495055	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs541914830	chr8:50495059-50495060	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs553545082	chr8:50495064-50495065	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs572095439	chr8:50495076-50495077	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs545438202	chr8:50495083-50495084	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs563713910	chr8:50495084-50495085	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs531914375	chr8:50495102-50495103	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs372074718	chr8:50495153-50495154	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs543672725	chr8:50495162-50495163	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs533848369	chr8:50495171-50495172	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs562328112	chr8:50495195-50495196	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs552513075	chr8:50495200-50495201	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570610616	chr8:50495208-50495209	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112725342	chr8:50495216-50495217	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79861850	chr8:50495237-50495238	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142675893	chr8:50495261-50495262	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533445574	chr8:50495262-50495263	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551836824	chr8:50495271-50495272	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570034177	chr8:50495280-50495281	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538165476	chr8:50495281-50495282	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569508818	chr8:50495286-50495287	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556452956	chr8:50495311-50495312	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2926100	chr8:50495313-50495314	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs535328128	chr8:50495338-50495339	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143499698	chr8:50495344-50495345	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189320349	chr8:50495348-50495349	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116766333	chr8:50495388-50495389	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557346388	chr8:50495391-50495392	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575604963	chr8:50495432-50495433	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs543708753	chr8:50495443-50495444	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs534306061	chr8:50495494-50495495	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs562286433	chr8:50495547-50495548	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs141678689	chr8:50495588-50495589	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs12680895	chr8:50495608-50495609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534261812	chr8:50495629-50495630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533482895	chr8:50495634-50495635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
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
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Oral cancer	21386901	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
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
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50494600-50494800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:50494800-50495600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:50494800-50497400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:50495200-50495400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr8:50495400-50496400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr8:50495600-50498200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:50496600-50496800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr8:50506200-50506600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:50516600-50517000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:50516600-50517000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:50516600-50517200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:50521200-50522000	Enhancers	Fetal Lung	lung

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