Variant report

Variant	esv2761447
Chromosome Location	chr8:90553156-90576196
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90570319..90572702-chr8:90573054..90574779,2	MCF-7	breast:
2	chr8:90570319..90572702-chr8:90573054..90574779,2	MCF-7	breast:
3	chr15:42762017..42764640-chr8:90562337..90564364,2	MCF-7	breast:
4	chr8:90573142..90574734-chr8:90574796..90577742,2	MCF-7	breast:
5	chr8:90573142..90574734-chr8:90574796..90577742,2	MCF-7	breast:

Extended variants
information (count: 919 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:919 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567801977	chr8:90553601-90553602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538415100	chr8:90553607-90553608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373551859	chr8:90553620-90553621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141424628	chr8:90553666-90553667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs578061262	chr8:90553671-90553672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571506710	chr8:90553691-90553692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538708908	chr8:90553692-90553693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538563756	chr8:90553695-90553696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553525635	chr8:90553704-90553705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572106133	chr8:90553705-90553706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150816422	chr8:90553733-90553734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs71528713	chr8:90553739-90553740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561999538	chr8:90553751-90553752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368910485	chr8:90553820-90553821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573782788	chr8:90553832-90553833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181249629	chr8:90553851-90553852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562508791	chr8:90553867-90553868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533053436	chr8:90553889-90553890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551447212	chr8:90553894-90553895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565543350	chr8:90553899-90553900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527266171	chr8:90553902-90553903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567740511	chr8:90553904-90553905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567974742	chr8:90553921-90553922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535905465	chr8:90553959-90553960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531879313	chr8:90553998-90553999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550361643	chr8:90554021-90554022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185757439	chr8:90554034-90554035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369745485	chr8:90554044-90554045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190611988	chr8:90554073-90554074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553840974	chr8:90554078-90554079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565772290	chr8:90554124-90554125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536223113	chr8:90554189-90554190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554638722	chr8:90554193-90554194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573893430	chr8:90554279-90554280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544136390	chr8:90554322-90554323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs76992842	chr8:90554327-90554328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577906912	chr8:90554329-90554330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545161508	chr8:90554353-90554354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113240269	chr8:90554369-90554370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527355207	chr8:90554441-90554442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538377403	chr8:90554470-90554471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542663528	chr8:90554474-90554475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560682938	chr8:90554490-90554491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532037345	chr8:90554506-90554507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550204576	chr8:90554521-90554522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183186822	chr8:90554523-90554524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543383970	chr8:90554598-90554599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376655918	chr8:90554647-90554648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547512893	chr8:90554673-90554674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565858645	chr8:90554711-90554712	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Bipolar disorder	19114987	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90553600-90556800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:90553800-90554200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:90554200-90554600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:90554600-90554800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:90554600-90556800	Enhancers	Hela-S3	cervix
6	chr8:90554600-90556800	Enhancers	HMEC	breast
7	chr8:90554800-90555600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:90554800-90556000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:90554800-90556800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:90554800-90556800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr8:90554800-90556800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:90555000-90555400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:90555000-90556800	Enhancers	NHDF-Ad	bronchial
14	chr8:90555000-90556800	Enhancers	Osteobl	bone
15	chr8:90555200-90556000	Enhancers	A549	lung
16	chr8:90555200-90556400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:90555200-90556800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:90555400-90555800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:90555400-90555800	Enhancers	NHLF	lung
20	chr8:90555400-90556400	Enhancers	NH-A	brain
21	chr8:90555400-90556400	Enhancers	NHEK	skin
22	chr8:90555400-90556600	Enhancers	HSMM	muscle
23	chr8:90555400-90556800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:90555600-90556000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:90555800-90556200	Weak transcription	NHLF	lung
26	chr8:90555800-90556600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:90556000-90556400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:90556000-90556600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:90556000-90556600	Flanking Active TSS	A549	lung
30	chr8:90556000-90556800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:90556200-90556400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:90556200-90556400	Enhancers	NHLF	lung
33	chr8:90556400-90558000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:90556400-90558200	Weak transcription	NH-A	brain
35	chr8:90556400-90558200	Weak transcription	NHEK	skin
36	chr8:90556400-90558600	Weak transcription	NHLF	lung
37	chr8:90556600-90556800	Enhancers	A549	lung
38	chr8:90556600-90558000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:90556600-90558200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:90556600-90558600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:90556600-90558600	Weak transcription	HSMM	muscle
42	chr8:90556800-90558000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:90556800-90558000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:90556800-90558000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:90556800-90558000	Weak transcription	A549	lung
46	chr8:90556800-90558000	Weak transcription	HMEC	breast
47	chr8:90556800-90558200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr8:90556800-90558200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:90556800-90558400	Weak transcription	Hela-S3	cervix
50	chr8:90556800-90558400	Weak transcription	Osteobl	bone

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