Variant report

Variant	esv3431291
Chromosome Location	chr8:21016272-21019470
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	chr8:21015073..21016879-chr8:21019625..21021848,2	K562	blood:

Extended variants
information (count: 186 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:186 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534394664	chr8:21016322-21016323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564323743	chr8:21016325-21016326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148318623	chr8:21016326-21016327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550258220	chr8:21016328-21016329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562203312	chr8:21016331-21016332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374912684	chr8:21016338-21016339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10283354	chr8:21016340-21016341	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs548139965	chr8:21016341-21016342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566667368	chr8:21016346-21016347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534077107	chr8:21016363-21016364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566434654	chr8:21016386-21016387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116030824	chr8:21016511-21016512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150824640	chr8:21016530-21016531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556707689	chr8:21016536-21016537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574942732	chr8:21016573-21016574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183718143	chr8:21016580-21016581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188195888	chr8:21016608-21016609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572685837	chr8:21016634-21016635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs193128482	chr8:21016660-21016661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547797168	chr8:21016690-21016691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557976749	chr8:21016716-21016717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185707926	chr8:21016759-21016760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144475856	chr8:21016768-21016769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562263722	chr8:21016835-21016836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs60344297	chr8:21016853-21016854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529759951	chr8:21016856-21016857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376855104	chr8:21016858-21016859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs397953864	chr8:21016859-21016860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541493483	chr8:21016860-21016861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560069911	chr8:21016863-21016864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527633534	chr8:21016866-21016867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552488086	chr8:21016867-21016868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570716313	chr8:21016868-21016869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531540709	chr8:21016876-21016877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559501845	chr8:21016891-21016892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs55692361	chr8:21016900-21016901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187821697	chr8:21016902-21016903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs71513815	chr8:21016903-21016904	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs376593885	chr8:21016944-21016945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553907232	chr8:21016945-21016946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147435606	chr8:21016980-21016981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539786031	chr8:21016988-21016989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576839812	chr8:21016989-21016990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558032091	chr8:21017027-21017028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576300459	chr8:21017032-21017033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543623683	chr8:21017063-21017064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2242178	chr8:21017111-21017112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556326227	chr8:21017112-21017113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536450188	chr8:21017144-21017145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369850945	chr8:21017147-21017148	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	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
Melanoma	20688739	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:21016200-21017600	Enhancers	Fetal Brain Male	brain
2	chr8:21016400-21016800	Enhancers	Fetal Brain Female	brain
3	chr8:21017600-21021600	Weak transcription	Fetal Brain Male	brain

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