Variant report

Variant	esv2753596
Chromosome Location	chr8:90134084-90196984
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90188779..90190304-chr8:90190359..90192960,2	MCF-7	breast:
2	chr8:90130870..90133130-chr8:90133939..90135476,2	MCF-7	breast:
3	chr8:90188779..90190304-chr8:90190359..90192960,2	MCF-7	breast:

Extended variants
information (count: 523 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:523 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184073530	chr8:90137028-90137029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78648681	chr8:90137039-90137040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187288933	chr8:90137062-90137063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs199819527	chr8:90137091-90137092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs3074711	chr8:90137092-90137093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368621246	chr8:90137093-90137094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372192895	chr8:90137094-90137095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375265409	chr8:90137095-90137096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191829250	chr8:90137097-90137098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142901123	chr8:90137131-90137132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559545990	chr8:90137143-90137144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs16891502	chr8:90137148-90137149	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs184418388	chr8:90137179-90137180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs151063247	chr8:90137213-90137214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190248856	chr8:90137229-90137230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181940852	chr8:90137230-90137231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570117540	chr8:90137242-90137243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139743460	chr8:90137259-90137260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539949885	chr8:90137275-90137276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74452445	chr8:90137277-90137278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568286801	chr8:90137292-90137293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535630289	chr8:90137318-90137319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373622233	chr8:90137328-90137329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185846929	chr8:90137359-90137360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149781787	chr8:90137395-90137396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs28679785	chr8:90140015-90140016	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs577730527	chr8:90140019-90140020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs28621916	chr8:90140052-90140053	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs554483700	chr8:90140065-90140066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs16891536	chr8:90140090-90140091	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs1733959	chr8:90140113-90140114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs28776794	chr8:90140116-90140117	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs561368361	chr8:90140134-90140135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12679031	chr8:90140154-90140155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540586567	chr8:90140207-90140208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144331345	chr8:90140215-90140216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543561905	chr8:90140223-90140224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545760302	chr8:90140228-90140229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529171678	chr8:90140258-90140259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532390696	chr8:90140290-90140291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76142108	chr8:90140386-90140387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10104256	chr8:90140457-90140458	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs550977421	chr8:90140458-90140459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550827473	chr8:90140474-90140475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562662918	chr8:90140475-90140476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567360131	chr8:90140504-90140505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537915220	chr8:90140516-90140517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73692730	chr8:90140528-90140529	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs571394589	chr8:90140529-90140530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538622696	chr8:90140561-90140562	Enhancers	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90137000-90137400	Enhancers	Fetal Heart	heart
2	chr8:90140000-90141800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr8:90140200-90141200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr8:90140400-90141200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr8:90140400-90141400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr8:90140800-90141000	Enhancers	H9 Cell Line	embryonic stem cell
7	chr8:90140800-90141200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr8:90140800-90141200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr8:90140800-90141800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:90141000-90141400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr8:90141600-90141800	Enhancers	H9 Cell Line	embryonic stem cell
12	chr8:90156000-90156200	Enhancers	Hela-S3	cervix
13	chr8:90156400-90157600	Weak transcription	Hela-S3	cervix
14	chr8:90157600-90158000	Enhancers	Hela-S3	cervix
15	chr8:90157600-90158000	Enhancers	NHDF-Ad	bronchial
16	chr8:90162200-90163400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:90163000-90163600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:90163400-90163800	Enhancers	H9 Cell Line	embryonic stem cell
19	chr8:90163400-90163800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:90163400-90164000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr8:90163400-90164000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr8:90163400-90164200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr8:90163400-90164200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr8:90163600-90163800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr8:90163800-90164200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr8:90174800-90175200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:90175200-90175600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:90175200-90175600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:90175200-90175600	ZNF genes & repeats	Pancreas	Pancrea
30	chr8:90184600-90185400	Enhancers	Hela-S3	cervix
31	chr8:90185000-90185400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr8:90185400-90187200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr8:90187200-90187600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr8:90188800-90191000	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr8:90189600-90190400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:90190200-90190800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
37	chr8:90191000-90191200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr8:90191200-90191600	Enhancers	HUES6 Cell Line	embryonic stem cell

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