Variant report

Variant	esv275500
Chromosome Location	chr8:120709458-120712679
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:120707984..120709744-chr8:120711269..120714120,2	K562	blood:
2	chr8:120707984..120709744-chr8:120711269..120714120,2	K562	blood:
3	chr20:45931212..45933655-chr8:120711556..120713155,2	MCF-7	breast:

Extended variants
information (count: 145 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551308105	chr8:120709477-120709478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531373306	chr8:120709523-120709524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562895532	chr8:120709543-120709544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192987756	chr8:120709608-120709609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551835824	chr8:120709613-120709614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184795073	chr8:120709625-120709626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549540789	chr8:120709627-120709628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148042525	chr8:120709642-120709643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548720315	chr8:120709684-120709685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568278978	chr8:120709708-120709709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567132829	chr8:120709754-120709755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537738944	chr8:120709765-120709766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368001032	chr8:120709809-120709810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs33992880	chr8:120709810-120709811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537068889	chr8:120709811-120709812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112067225	chr8:120709824-120709825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs398009592	chr8:120709827-120709828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367921721	chr8:120709828-120709829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577545207	chr8:120709842-120709843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1277461	chr8:120709934-120709935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554082229	chr8:120709940-120709941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141860192	chr8:120709984-120709985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181602211	chr8:120709993-120709994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553745850	chr8:120710013-120710014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141462681	chr8:120710022-120710023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565888441	chr8:120710099-120710100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542749355	chr8:120710135-120710136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562226193	chr8:120710207-120710208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574327591	chr8:120710208-120710209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150863301	chr8:120710216-120710217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563070820	chr8:120710270-120710271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533692820	chr8:120710286-120710287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548133666	chr8:120710292-120710293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371776963	chr8:120710339-120710340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34744769	chr8:120710340-120710341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556901257	chr8:120710341-120710342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs398009593	chr8:120710357-120710358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551455983	chr8:120710377-120710378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs16892994	chr8:120710382-120710383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527738617	chr8:120710398-120710399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34872621	chr8:120710403-120710404	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs567120564	chr8:120710420-120710421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186131790	chr8:120710478-120710479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558249999	chr8:120710486-120710487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189465718	chr8:120710540-120710541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs180795859	chr8:120710608-120710609	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs538948412	chr8:120710709-120710710	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs186288335	chr8:120710722-120710723	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs16892996	chr8:120710747-120710748	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs576633668	chr8:120710822-120710823	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:141)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	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
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	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120707600-120710800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr8:120707800-120712400	Weak transcription	Fetal Muscle Leg	muscle
3	chr8:120708200-120710600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:120708400-120710800	Weak transcription	Adipose Nuclei	Adipose
5	chr8:120710000-120710600	Enhancers	HUVEC	blood vessel
6	chr8:120710000-120711200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:120710000-120711400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr8:120710200-120711000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:120710200-120711200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr8:120710600-120711000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:120710600-120711000	Flanking Active TSS	HUVEC	blood vessel
12	chr8:120710600-120711200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:120710600-120711200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr8:120710800-120711200	Enhancers	Brain Anterior Caudate	brain
15	chr8:120710800-120711200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr8:120710800-120711200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr8:120710800-120712000	Enhancers	Adipose Nuclei	Adipose
18	chr8:120711000-120711200	Enhancers	HUVEC	blood vessel
19	chr8:120711000-120713400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:120711000-120713600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:120711200-120711400	Enhancers	Placenta	Placenta
22	chr8:120711200-120713000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:120711200-120713600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr8:120711200-120713600	Weak transcription	HUVEC	blood vessel
25	chr8:120711400-120715600	Weak transcription	Placenta	Placenta
26	chr8:120711600-120711800	Enhancers	Esophagus	oesophagus
27	chr8:120711800-120716000	Weak transcription	Esophagus	oesophagus
28	chr8:120712000-120712600	Weak transcription	Adipose Nuclei	Adipose
29	chr8:120712400-120714200	Enhancers	Fetal Muscle Leg	muscle
30	chr8:120712600-120714200	Enhancers	Adipose Nuclei	Adipose

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