Variant report

Variant	esv3489366
Chromosome Location	chr8:19577908-19579183
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	chr8:19391042..19393600-chr8:19578654..19580566,2	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143111496	chr8:19577922-19577923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184199375	chr8:19577924-19577925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2006476	chr8:19577968-19577969	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs377586827	chr8:19577988-19577989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369240329	chr8:19577997-19577998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572046090	chr8:19578022-19578023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540665180	chr8:19578024-19578025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554046873	chr8:19578040-19578041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573954992	chr8:19578085-19578086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188873481	chr8:19578092-19578093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562769487	chr8:19578113-19578114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373702262	chr8:19578115-19578116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140548274	chr8:19578126-19578127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371388451	chr8:19578215-19578216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565232864	chr8:19578255-19578256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1994788	chr8:19578268-19578269	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs540223367	chr8:19578271-19578272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547435835	chr8:19578276-19578277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376377840	chr8:19578288-19578289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182066043	chr8:19578333-19578334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529992090	chr8:19578364-19578365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73202516	chr8:19578387-19578388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569897448	chr8:19578389-19578390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187043700	chr8:19578402-19578403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374551642	chr8:19578403-19578404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs202011061	chr8:19578418-19578419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs386723256	chr8:19578421-19578422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs199964050	chr8:19578423-19578424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532624294	chr8:19578453-19578454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73202517	chr8:19578472-19578473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368384328	chr8:19578481-19578482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144387577	chr8:19578484-19578485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574016066	chr8:19578573-19578574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536583132	chr8:19578581-19578582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556430549	chr8:19578590-19578591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112596997	chr8:19578609-19578610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569408648	chr8:19578629-19578630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372032045	chr8:19578637-19578638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182225114	chr8:19578657-19578658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565391059	chr8:19578673-19578674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150807335	chr8:19578710-19578711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541461340	chr8:19578717-19578718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561291605	chr8:19578723-19578724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530097800	chr8:19578747-19578748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185071691	chr8:19578754-19578755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563429810	chr8:19578755-19578756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532339481	chr8:19578801-19578802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541814672	chr8:19578819-19578820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574770570	chr8:19578843-19578844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565784253	chr8:19578847-19578848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19563200-19578200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr8:19573200-19578400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr8:19573200-19579000	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr8:19573200-19579000	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr8:19573800-19578800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr8:19573800-19580000	Weak transcription	Pancreas	Pancrea
7	chr8:19574400-19578200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:19574400-19578200	Enhancers	HMEC	breast
9	chr8:19574400-19578600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr8:19574800-19578400	Enhancers	Right Ventricle	heart
11	chr8:19574800-19578800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:19574800-19578800	Enhancers	Placenta	Placenta
13	chr8:19575000-19578400	Enhancers	Left Ventricle	heart
14	chr8:19575000-19578400	Enhancers	Osteobl	bone
15	chr8:19575200-19578000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:19575400-19587200	Weak transcription	Brain Angular Gyrus	brain
17	chr8:19575400-19596800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr8:19576000-19578200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:19576000-19578800	Enhancers	A549	lung
20	chr8:19576200-19578200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:19576200-19578400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr8:19576200-19578800	Enhancers	Right Atrium	heart
23	chr8:19576400-19579000	Weak transcription	Thymus	Thymus
24	chr8:19576400-19580000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:19576400-19591800	Weak transcription	Primary B cells from cord blood	blood
26	chr8:19576600-19578400	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr8:19576800-19578000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr8:19576800-19578200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr8:19576800-19578600	Weak transcription	Fetal Brain Female	brain
30	chr8:19576800-19579000	Enhancers	Fetal Heart	heart
31	chr8:19577200-19578000	Weak transcription	Fetal Brain Male	brain
32	chr8:19577200-19578200	Enhancers	Brain Anterior Caudate	brain
33	chr8:19577200-19578200	Enhancers	Esophagus	oesophagus
34	chr8:19577200-19578400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:19577200-19578400	Enhancers	Primary T cells fromperipheralblood	blood
36	chr8:19577400-19579200	Enhancers	Hela-S3	cervix
37	chr8:19577400-19586800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr8:19577600-19578000	Weak transcription	Ovary	ovary
39	chr8:19577600-19578200	Enhancers	Adipose Nuclei	Adipose
40	chr8:19577600-19578400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr8:19577600-19578600	Enhancers	Brain Cingulate Gyrus	brain
42	chr8:19577600-19578600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr8:19577600-19578800	Enhancers	Fetal Muscle Leg	muscle
44	chr8:19577600-19585000	Weak transcription	Primary T cells from cord blood	blood
45	chr8:19577600-19587200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr8:19577800-19578600	Enhancers	Psoas Muscle	Psoas
47	chr8:19577800-19599000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr8:19578000-19578200	Enhancers	Stomach Smooth Muscle	stomach
49	chr8:19578000-19578400	Enhancers	Brain Substantia Nigra	brain
50	chr8:19578000-19578400	Enhancers	Lung	lung

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