Variant report

Variant	esv3329496
Chromosome Location	chr8:52411999-52416197
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	chr8:52414580..52417388-chr8:52418720..52420660,2	MCF-7	breast:

Extended variants
information (count: 155 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566340172	chr8:52412015-52412016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539220394	chr8:52412022-52412023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76560484	chr8:52412036-52412037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540156441	chr8:52412069-52412070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140014040	chr8:52412087-52412088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75776946	chr8:52412091-52412092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556327334	chr8:52412104-52412105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185820303	chr8:52412120-52412121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78699549	chr8:52412136-52412137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540835632	chr8:52412139-52412140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545036425	chr8:52412140-52412141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374034811	chr8:52412143-52412144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577443299	chr8:52412149-52412150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142076844	chr8:52412163-52412164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs755311	chr8:52412226-52412227	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs560847279	chr8:52412236-52412237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564162673	chr8:52412239-52412240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368334102	chr8:52412252-52412253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75168301	chr8:52412262-52412263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548965225	chr8:52412263-52412264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372013787	chr8:52412274-52412275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374921560	chr8:52412275-52412276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369197424	chr8:52412312-52412313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541900747	chr8:52412347-52412348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560779888	chr8:52412348-52412349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528202868	chr8:52412412-52412413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547644872	chr8:52412447-52412448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566252335	chr8:52412450-52412451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182044169	chr8:52412497-52412498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552103030	chr8:52412508-52412509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570368647	chr8:52412518-52412519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148572069	chr8:52412521-52412522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555749194	chr8:52412522-52412523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186583751	chr8:52412544-52412545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535096207	chr8:52412546-52412547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116427302	chr8:52412573-52412574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577405015	chr8:52412584-52412585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4873556	chr8:52412601-52412602	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs142924022	chr8:52412615-52412616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76548858	chr8:52412664-52412665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192310713	chr8:52412700-52412701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560959164	chr8:52412705-52412706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528099173	chr8:52412719-52412720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546711716	chr8:52412757-52412758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565022705	chr8:52412798-52412799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76796183	chr8:52412862-52412863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111481939	chr8:52412915-52412916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564728256	chr8:52413082-52413083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34075971	chr8:52413096-52413097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570331977	chr8:52413179-52413180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
Lung cancer	18438408	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
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52411200-52412000	Strong transcription	Left Ventricle	heart
2	chr8:52412000-52413600	Weak transcription	Left Ventricle	heart
3	chr8:52413600-52415000	Enhancers	Left Ventricle	heart
4	chr8:52413800-52414000	ZNF genes & repeats	Fetal Kidney	kidney
5	chr8:52413800-52414200	Enhancers	Rectal Smooth Muscle	rectum
6	chr8:52413800-52414400	Enhancers	Esophagus	oesophagus
7	chr8:52413800-52414400	Enhancers	Right Atrium	heart
8	chr8:52413800-52415000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:52413800-52415000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:52413800-52415000	Enhancers	Right Ventricle	heart
11	chr8:52414000-52414200	Enhancers	H9 Cell Line	embryonic stem cell
12	chr8:52414000-52414200	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
13	chr8:52414000-52414200	Enhancers	Spleen	Spleen
14	chr8:52414000-52414400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:52414000-52414400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:52414000-52414600	Enhancers	Aorta	Aorta
17	chr8:52414000-52415000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:52414200-52414400	Bivalent Enhancer	Fetal Kidney	kidney
19	chr8:52414200-52415000	Enhancers	Psoas Muscle	Psoas
20	chr8:52414400-52415000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:52414600-52415200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:52414800-52415400	Enhancers	NH-A	brain
23	chr8:52415000-52416000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:52415000-52424000	Weak transcription	Left Ventricle	heart

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