Variant report

Variant	esv2481095
Chromosome Location	chr8:19523898-19525397
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19523263..19525014-chr8:19530361..19532867,2	MCF-7	breast:
2	chr8:19147589..19149540-chr8:19523160..19524664,2	MCF-7	breast:

Extended variants
information (count: 121 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4922080	chr8:19523912-19523913	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs569359599	chr8:19523930-19523931	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs538245628	chr8:19523934-19523935	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs532520661	chr8:19523939-19523940	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs187768165	chr8:19523954-19523955	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs571799790	chr8:19523977-19523978	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs534425696	chr8:19523979-19523980	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs554370963	chr8:19523981-19523982	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs13265244	chr8:19523992-19523993	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs62494489	chr8:19524000-19524001	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs569258585	chr8:19524008-19524009	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs536769043	chr8:19524016-19524017	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs556689395	chr8:19524055-19524056	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs536684382	chr8:19524072-19524073	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs13272563	chr8:19524109-19524110	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs576395707	chr8:19524110-19524111	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs58141703	chr8:19524119-19524120	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs369623001	chr8:19524128-19524129	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs565208390	chr8:19524142-19524143	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs567053112	chr8:19524145-19524146	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs572213913	chr8:19524186-19524187	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs534359870	chr8:19524219-19524220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150511524	chr8:19524237-19524238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs13276079	chr8:19524259-19524260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs13275011	chr8:19524260-19524261	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs560533569	chr8:19524271-19524272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541304171	chr8:19524274-19524275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560778775	chr8:19524275-19524276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571057100	chr8:19524279-19524280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73214692	chr8:19524283-19524284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549505748	chr8:19524292-19524293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143134868	chr8:19524296-19524297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200092662	chr8:19524305-19524306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369489823	chr8:19524307-19524308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs367786295	chr8:19524320-19524321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375633259	chr8:19524321-19524322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35734602	chr8:19524322-19524323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs202230485	chr8:19524342-19524343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142161145	chr8:19524394-19524395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372924056	chr8:19524395-19524396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs202245434	chr8:19524396-19524397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150810404	chr8:19524398-19524399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200378633	chr8:19524402-19524403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532832706	chr8:19524404-19524405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114134641	chr8:19524405-19524406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139188245	chr8:19524409-19524410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554402840	chr8:19524410-19524411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs71545563	chr8:19524414-19524415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs71205939	chr8:19524450-19524451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573069764	chr8:19524454-19524455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Epilepsy	22083797	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17603634	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	18840272	CNVD
Breast cancer	19602461	CNVD
Osteosarcoma	19286668	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	19258508	CNVD
small cell lung cancer	20016488	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Gastric adenocarcinoma	19115996	CNVD
Colorectal cancer	19455253	CNVD
Prostate cancer	22341455	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19516600-19525000	Enhancers	Placenta	Placenta
2	chr8:19518200-19524000	Enhancers	NHEK	skin
3	chr8:19518200-19524200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr8:19518600-19524000	Enhancers	HMEC	breast
5	chr8:19519800-19524200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:19520000-19524200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:19520200-19529000	Enhancers	Primary B cells from cord blood	blood
8	chr8:19520400-19527600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr8:19520400-19528600	Weak transcription	Brain Angular Gyrus	brain
10	chr8:19520400-19530400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr8:19520400-19539000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr8:19520400-19539400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr8:19520400-19539600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:19520600-19525000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:19520600-19527200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr8:19520600-19528400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr8:19520600-19528600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:19520600-19528600	Weak transcription	Lung	lung
19	chr8:19520600-19538800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:19520600-19538800	Weak transcription	Esophagus	oesophagus
21	chr8:19520600-19538800	Weak transcription	Gastric	stomach
22	chr8:19521400-19524000	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr8:19521600-19524200	Enhancers	Osteobl	bone
24	chr8:19521800-19524200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr8:19521800-19527200	Weak transcription	Aorta	Aorta
26	chr8:19521800-19527600	Weak transcription	Right Ventricle	heart
27	chr8:19522200-19524000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:19522200-19524200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:19522200-19524200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:19522200-19524200	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr8:19522400-19524200	Enhancers	Ovary	ovary
32	chr8:19522400-19525200	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr8:19522600-19524000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr8:19523000-19524200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:19523000-19525400	Enhancers	Primary B cells from peripheral blood	blood
36	chr8:19523000-19525400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr8:19523000-19526400	Enhancers	Hela-S3	cervix
38	chr8:19523200-19524000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:19523200-19524000	Weak transcription	Left Ventricle	heart
40	chr8:19523200-19524200	Flanking Active TSS	A549	lung
41	chr8:19523200-19528200	Weak transcription	Right Atrium	heart
42	chr8:19523200-19533200	Weak transcription	Pancreas	Pancrea
43	chr8:19523200-19534600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr8:19523400-19524600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:19523400-19524800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr8:19523400-19529600	Weak transcription	Fetal Brain Female	brain
47	chr8:19523600-19524200	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr8:19523600-19524200	Enhancers	Fetal Brain Male	brain
49	chr8:19523600-19538600	Weak transcription	Brain Anterior Caudate	brain
50	chr8:19523800-19524000	Enhancers	Sigmoid Colon	Sigmoid Colon

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