Variant report

Variant	esv2756488
Chromosome Location	chr8:90143731-90202984
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90197316..90199111-chr8:90201363..90203409,2	MCF-7	breast:
2	chr8:90197316..90199111-chr8:90201363..90203409,2	MCF-7	breast:
3	chr8:90188779..90190304-chr8:90190359..90192960,2	MCF-7	breast:
4	chr8:90188779..90190304-chr8:90190359..90192960,2	MCF-7	breast:

Extended variants
information (count: 459 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:459 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552165116	chr8:90156041-90156042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs427521	chr8:90156154-90156155	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs181155385	chr8:90156178-90156179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570548482	chr8:90156529-90156530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148950330	chr8:90156569-90156570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536488999	chr8:90156575-90156576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369403742	chr8:90156579-90156580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372886344	chr8:90156582-90156583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375887910	chr8:90156583-90156584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370674285	chr8:90156586-90156587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35696427	chr8:90156587-90156588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149960525	chr8:90156588-90156589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199854385	chr8:90156590-90156591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71560213	chr8:90156598-90156599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200763058	chr8:90156599-90156600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201804196	chr8:90156600-90156601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200008742	chr8:90156603-90156604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12676195	chr8:90156615-90156616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534779117	chr8:90156631-90156632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565675393	chr8:90156633-90156634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534755735	chr8:90156634-90156635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554328457	chr8:90156637-90156638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143682781	chr8:90156662-90156663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554842144	chr8:90156678-90156679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576335147	chr8:90156743-90156744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190150006	chr8:90156772-90156773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546355628	chr8:90156776-90156777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181857630	chr8:90156798-90156799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187028306	chr8:90156811-90156812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148085198	chr8:90156828-90156829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535472946	chr8:90156836-90156837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568976591	chr8:90156851-90156852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539061723	chr8:90156874-90156875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568250416	chr8:90156879-90156880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191869098	chr8:90156880-90156881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs384160	chr8:90156881-90156882	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs534509165	chr8:90156893-90156894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555967393	chr8:90156896-90156897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13258030	chr8:90156924-90156925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13258043	chr8:90156938-90156939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564953085	chr8:90156949-90156950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142725299	chr8:90156983-90156984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183381718	chr8:90156984-90156985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544852782	chr8:90156998-90156999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576900881	chr8:90157001-90157002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575339506	chr8:90157046-90157047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13250851	chr8:90157078-90157079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115417664	chr8:90157121-90157122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185153876	chr8:90157145-90157146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73288123	chr8:90157153-90157154	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90156000-90156200	Enhancers	Hela-S3	cervix
2	chr8:90156400-90157600	Weak transcription	Hela-S3	cervix
3	chr8:90157600-90158000	Enhancers	Hela-S3	cervix
4	chr8:90157600-90158000	Enhancers	NHDF-Ad	bronchial
5	chr8:90162200-90163400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:90163000-90163600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr8:90163400-90163800	Enhancers	H9 Cell Line	embryonic stem cell
8	chr8:90163400-90163800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:90163400-90164000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr8:90163400-90164000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr8:90163400-90164200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr8:90163400-90164200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr8:90163600-90163800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr8:90163800-90164200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr8:90174800-90175200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:90175200-90175600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:90175200-90175600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:90175200-90175600	ZNF genes & repeats	Pancreas	Pancrea
19	chr8:90184600-90185400	Enhancers	Hela-S3	cervix
20	chr8:90185000-90185400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr8:90185400-90187200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr8:90187200-90187600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr8:90188800-90191000	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr8:90189600-90190400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:90190200-90190800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
26	chr8:90191000-90191200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr8:90191200-90191600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr8:90201200-90202000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:90201600-90202000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:90202800-90213400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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