Variant report

Variant	esv2757280
Chromosome Location	chr8:90321647-90338278
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	chr8:90328134..90330530-chr8:90335776..90338151,2	MCF-7	breast:
2	chr8:90328134..90330530-chr8:90335776..90338151,2	MCF-7	breast:

Extended variants
information (count: 644 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:644 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7840648	chr8:90321647-90321648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7840660	chr8:90321677-90321678	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs529906576	chr8:90321734-90321735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115610665	chr8:90321778-90321779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192509316	chr8:90321779-90321780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183542237	chr8:90321799-90321800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552264312	chr8:90321805-90321806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565151283	chr8:90321852-90321853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201296356	chr8:90321925-90321926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28668128	chr8:90321928-90321929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs372362472	chr8:90321929-90321930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12550107	chr8:90321932-90321933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs200840617	chr8:90321943-90321944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201644055	chr8:90321944-90321945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12550110	chr8:90321963-90321964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35399670	chr8:90321967-90321968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535752031	chr8:90321974-90321975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34330828	chr8:90321993-90321994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184531981	chr8:90322004-90322005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557093388	chr8:90322005-90322006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189504120	chr8:90322076-90322077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545953886	chr8:90322118-90322119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142878463	chr8:90322124-90322125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112007278	chr8:90322198-90322199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139707102	chr8:90322246-90322247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559383785	chr8:90322267-90322268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529967350	chr8:90322276-90322277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542154568	chr8:90322325-90322326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564086574	chr8:90322377-90322378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550317144	chr8:90322422-90322423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530745037	chr8:90322423-90322424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551960877	chr8:90322442-90322443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570559984	chr8:90322451-90322452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528062786	chr8:90322452-90322453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562541423	chr8:90322459-90322460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191789805	chr8:90322484-90322485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111343036	chr8:90322495-90322496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34531015	chr8:90322517-90322518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535717828	chr8:90322524-90322525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550886259	chr8:90322526-90322527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs58699294	chr8:90322529-90322530	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs540059860	chr8:90322530-90322531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557962053	chr8:90322539-90322540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375639997	chr8:90322552-90322553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184315838	chr8:90322557-90322558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7835410	chr8:90322558-90322559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7836431	chr8:90322561-90322562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189085543	chr8:90322562-90322563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555756836	chr8:90322575-90322576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574097957	chr8:90322584-90322585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90320800-90324800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr8:90321200-90325000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:90321400-90323400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:90321400-90324800	Weak transcription	NHEK	skin
5	chr8:90321600-90323400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:90321600-90324800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:90321600-90324800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:90321600-90325000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:90321600-90325200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr8:90323400-90323800	Enhancers	A549	lung
11	chr8:90323400-90326600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:90323400-90327600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:90323600-90323800	Enhancers	Fetal Kidney	kidney
14	chr8:90323800-90324800	Weak transcription	Fetal Kidney	kidney
15	chr8:90323800-90325400	Weak transcription	A549	lung
16	chr8:90324600-90327200	Enhancers	HUVEC	blood vessel
17	chr8:90324800-90325200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr8:90324800-90325200	Enhancers	NH-A	brain
19	chr8:90324800-90325400	Enhancers	Fetal Kidney	kidney
20	chr8:90324800-90325800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:90324800-90326600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:90324800-90326600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:90324800-90326800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:90324800-90327000	Enhancers	NHEK	skin
25	chr8:90325000-90325400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr8:90325000-90326000	Enhancers	HMEC	breast
27	chr8:90325000-90326400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:90325000-90326600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:90325200-90325400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:90325200-90325600	Flanking Active TSS	NH-A	brain
31	chr8:90325200-90325800	Enhancers	Primary hematopoietic stem cells	blood
32	chr8:90325200-90326600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr8:90325400-90325800	Enhancers	A549	lung
34	chr8:90325600-90326600	Enhancers	NH-A	brain
35	chr8:90326000-90326600	Weak transcription	HMEC	breast
36	chr8:90326200-90326600	Enhancers	Osteobl	bone
37	chr8:90326600-90326800	Enhancers	HMEC	breast
38	chr8:90327600-90334600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:90329000-90329200	Enhancers	Fetal Brain Male	brain
40	chr8:90329400-90330000	Enhancers	Fetal Brain Female	brain
41	chr8:90330000-90331200	Weak transcription	Fetal Brain Female	brain
42	chr8:90330000-90334200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr8:90330800-90331400	Enhancers	Fetal Brain Male	brain
44	chr8:90331400-90331600	Enhancers	Fetal Brain Female	brain
45	chr8:90333800-90335200	Enhancers	Primary hematopoietic stem cells	blood
46	chr8:90334000-90334200	Weak transcription	NH-A	brain
47	chr8:90334000-90334800	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr8:90334000-90335000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:90334000-90335000	Enhancers	HUVEC	blood vessel
50	chr8:90334000-90335200	Enhancers	Muscle Satellite Cultured Cells	--

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