Variant report

Variant	esv3481470
Chromosome Location	chr8:19372957-19376837
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	chr8:19371116..19373771-chr8:19377059..19378982,3	K562	blood:

Extended variants
information (count: 282 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:282 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558470568	chr8:19372965-19372966	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs377218540	chr8:19372975-19372976	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs191517266	chr8:19372994-19372995	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs145764508	chr8:19373000-19373001	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs373538328	chr8:19373017-19373018	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs146639586	chr8:19373047-19373048	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs113852735	chr8:19373050-19373051	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs377664696	chr8:19373062-19373063	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs560856453	chr8:19373070-19373071	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs539443237	chr8:19373074-19373075	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs141384073	chr8:19373092-19373093	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs576421996	chr8:19373122-19373123	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs144989725	chr8:19373132-19373133	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs77177105	chr8:19373158-19373159	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs148297995	chr8:19373171-19373172	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs114422927	chr8:19373215-19373216	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs560772922	chr8:19373221-19373222	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs553265804	chr8:19373227-19373228	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs143439993	chr8:19373228-19373229	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs367960768	chr8:19373237-19373238	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs4554481	chr8:19373265-19373266	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs4436140	chr8:19373267-19373268	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs116358973	chr8:19373283-19373284	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs532159003	chr8:19373312-19373313	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs547240504	chr8:19373313-19373314	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs141489658	chr8:19373314-19373315	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs183960474	chr8:19373322-19373323	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs534243887	chr8:19373338-19373339	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs554359018	chr8:19373367-19373368	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs571924686	chr8:19373369-19373370	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs113611828	chr8:19373371-19373372	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs62493882	chr8:19373386-19373387	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs536733067	chr8:19373404-19373405	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs556740671	chr8:19373415-19373416	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs373635184	chr8:19373416-19373417	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs189784981	chr8:19373426-19373427	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs76126765	chr8:19373432-19373433	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs2975473	chr8:19373459-19373460	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs532473356	chr8:19373467-19373468	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs540932467	chr8:19373477-19373478	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs2975475	chr8:19373486-19373487	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs560712027	chr8:19373496-19373497	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs373943709	chr8:19373509-19373510	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs529880961	chr8:19373518-19373519	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs2975482	chr8:19373538-19373539	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs543113574	chr8:19373548-19373549	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs181754509	chr8:19373549-19373550	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs557728470	chr8:19373551-19373552	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs2975486	chr8:19373553-19373554	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs186923419	chr8:19373560-19373561	Weak transcription Enhancers Flanking Active TSS Active TSS	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
Prostate cancer	22341455	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19348000-19376600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:19363200-19376600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:19364800-19376400	Weak transcription	Hela-S3	cervix
4	chr8:19367000-19385000	Weak transcription	Ovary	ovary
5	chr8:19369200-19373800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr8:19370800-19374400	Weak transcription	A549	lung
7	chr8:19370800-19376800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:19370800-19381200	Weak transcription	Fetal Stomach	stomach
9	chr8:19370800-19385000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr8:19371200-19380000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:19371400-19373000	Enhancers	Left Ventricle	heart
12	chr8:19371400-19374400	Enhancers	Fetal Thymus	thymus
13	chr8:19371400-19374400	Enhancers	Thymus	Thymus
14	chr8:19371800-19378400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:19372400-19373000	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr8:19372400-19373000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:19372400-19373000	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr8:19372400-19373400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr8:19372400-19373400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr8:19372400-19373600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr8:19372400-19373600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
22	chr8:19372400-19373600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr8:19372400-19373600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:19372400-19373600	Enhancers	GM12878-XiMat	blood
25	chr8:19372400-19373800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:19372400-19374000	Enhancers	Primary hematopoietic stem cells	blood
27	chr8:19372600-19373000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr8:19372600-19373000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr8:19372600-19373000	Enhancers	Adipose Nuclei	Adipose
30	chr8:19372600-19373000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr8:19372600-19373000	Enhancers	Lung	lung
32	chr8:19372600-19373000	Enhancers	Right Atrium	heart
33	chr8:19372600-19373200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr8:19372600-19373200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr8:19372600-19373200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr8:19372600-19373400	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr8:19372600-19373400	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr8:19372600-19373400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr8:19372600-19373400	Enhancers	Colonic Mucosa	Colon
40	chr8:19372600-19373600	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr8:19372600-19373600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr8:19372600-19373600	Enhancers	Placenta	Placenta
43	chr8:19372600-19373600	Enhancers	Right Ventricle	heart
44	chr8:19372600-19374400	Enhancers	Dnd41	blood
45	chr8:19372800-19373000	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr8:19372800-19373000	Enhancers	Gastric	stomach
47	chr8:19372800-19373200	Weak transcription	Pancreas	Pancrea
48	chr8:19372800-19373200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr8:19372800-19373400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:19372800-19373400	Enhancers	Brain Hippocampus Middle	brain

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