Variant report

Variant	esv3349000
Chromosome Location	chr8:115899825-115937205
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:115929754..115932534-chr8:115934000..115935669,2	MCF-7	breast:
2	chr8:115929754..115932534-chr8:115934000..115935669,2	MCF-7	breast:
3	chr8:115932881..115936964-chr8:115939898..115942520,3	MCF-7	breast:
4	chr8:115915009..115917455-chr8:115920536..115922270,2	MCF-7	breast:
5	chr8:115915009..115917455-chr8:115920536..115922270,2	MCF-7	breast:

Extended variants
information (count: 649 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:649 , 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	rs116943710	chr8:115909054-115909055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547613716	chr8:115909078-115909079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138755238	chr8:115909102-115909103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189378538	chr8:115909103-115909104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548528075	chr8:115909186-115909187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569921183	chr8:115909244-115909245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141810926	chr8:115909311-115909312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576098437	chr8:115909346-115909347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181437539	chr8:115909371-115909372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185973327	chr8:115909374-115909375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551666947	chr8:115909459-115909460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543454233	chr8:115909494-115909495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145566579	chr8:115909560-115909561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs13438839	chr8:115909561-115909562	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs533722093	chr8:115909580-115909581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114021734	chr8:115909595-115909596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557234085	chr8:115909644-115909645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575491146	chr8:115909666-115909667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189506194	chr8:115909669-115909670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2357834	chr8:115909673-115909674	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs576896471	chr8:115909716-115909717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567344294	chr8:115909719-115909720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181557973	chr8:115909789-115909790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559373383	chr8:115909796-115909797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs62514219	chr8:115909888-115909889	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs138695945	chr8:115909892-115909893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563616155	chr8:115909944-115909945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533725440	chr8:115909968-115909969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10091415	chr8:115909998-115909999	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs552569715	chr8:115910006-115910007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531971993	chr8:115910027-115910028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371973148	chr8:115910034-115910035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs67347315	chr8:115910035-115910036	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs185931283	chr8:115910075-115910076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544522605	chr8:115910129-115910130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568492811	chr8:115910152-115910153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535660803	chr8:115910157-115910158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200675182	chr8:115910164-115910165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557121636	chr8:115910193-115910194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557126975	chr8:115915642-115915643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565433150	chr8:115915644-115915645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537002726	chr8:115915649-115915650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558377129	chr8:115915833-115915834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576860235	chr8:115915879-115915880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553358642	chr8:115915942-115915943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541257809	chr8:115915998-115915999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574796615	chr8:115916020-115916021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574654476	chr8:115916057-115916058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542169028	chr8:115916134-115916135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563553040	chr8:115916135-115916136	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
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
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
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
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
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
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	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
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115909000-115910200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:115909400-115910200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:115915600-115917400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:115916000-115917000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:115916200-115916600	Enhancers	Adipose Nuclei	Adipose
6	chr8:115916200-115917000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:115916200-115917000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr8:115916200-115917000	Enhancers	NHDF-Ad	bronchial
9	chr8:115916200-115917000	Enhancers	Osteobl	bone
10	chr8:115916400-115916800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr8:115916600-115917000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:115917000-115920600	Weak transcription	Osteobl	bone
13	chr8:115917000-115921000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:115917400-115919200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:115919200-115920800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:115920600-115921200	Enhancers	Fetal Muscle Leg	muscle
17	chr8:115920600-115921200	Enhancers	Osteobl	bone
18	chr8:115921000-115921200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:115921000-115921800	Enhancers	Fetal Muscle Trunk	muscle
20	chr8:115921200-115921800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:115921800-115922400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:115923400-115923800	Active TSS	Fetal Heart	heart
23	chr8:115928200-115928400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:115928200-115932400	ZNF genes & repeats	Dnd41	blood
25	chr8:115928400-115929600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:115929000-115929200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
27	chr8:115932400-115933400	Transcr. at gene 5' and 3'	Dnd41	blood
28	chr8:115932600-115933200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:115932800-115933000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr8:115933000-115934000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr8:115933200-115934200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:115933400-115934400	Flanking Active TSS	Dnd41	blood
33	chr8:115933600-115935200	Enhancers	Liver	Liver
34	chr8:115933800-115934600	Enhancers	Primary hematopoietic stem cells	blood
35	chr8:115934000-115934400	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr8:115934200-115934400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:115934200-115934800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:115934200-115934800	Enhancers	Gastric	stomach
39	chr8:115934200-115934800	Enhancers	Hela-S3	cervix
40	chr8:115934400-115936000	Enhancers	Dnd41	blood
41	chr8:115934600-115935800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:115935400-115935800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:115935800-115936000	Enhancers	Liver	Liver
44	chr8:115936000-115940200	Weak transcription	Dnd41	blood

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