Variant report

Variant	esv3481101
Chromosome Location	chr8:6044961-6072577
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	chr8:6040393..6043249-chr8:6044843..6046899,2	K562	blood:

Extended variants
information (count: 419 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:419 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144046096	chr8:6054834-6054835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566491798	chr8:6054871-6054872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532374961	chr8:6054896-6054897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536551318	chr8:6054901-6054902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569271144	chr8:6054908-6054909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538421127	chr8:6054914-6054915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556041661	chr8:6054932-6054933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76887385	chr8:6054936-6054937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7009222	chr8:6054952-6054953	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs564969416	chr8:6054953-6054954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534534805	chr8:6054959-6054960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554512133	chr8:6054963-6054964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572826053	chr8:6054965-6054966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370971915	chr8:6054984-6054985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545043879	chr8:6055006-6055007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374483331	chr8:6055007-6055008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150967735	chr8:6055010-6055011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559801659	chr8:6055016-6055017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78949155	chr8:6055018-6055019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140700396	chr8:6055033-6055034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560555658	chr8:6055039-6055040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529848851	chr8:6055084-6055085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374507497	chr8:6055085-6055086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540091053	chr8:6055088-6055089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188021349	chr8:6055091-6055092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550441266	chr8:6055092-6055093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs6988713	chr8:6055113-6055114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6988837	chr8:6055129-6055130	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs371564768	chr8:6055143-6055144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562979604	chr8:6055178-6055179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532721349	chr8:6055198-6055199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531757630	chr8:6055200-6055201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77346722	chr8:6065423-6065424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73188689	chr8:6065424-6065425	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs535533150	chr8:6065433-6065434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182090946	chr8:6065445-6065446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186454860	chr8:6065449-6065450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564541031	chr8:6065463-6065464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148368932	chr8:6065465-6065466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142248729	chr8:6065489-6065490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146350250	chr8:6065505-6065506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537755849	chr8:6065534-6065535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555837183	chr8:6065538-6065539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6980531	chr8:6065543-6065544	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs541528095	chr8:6065550-6065551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561803028	chr8:6065559-6065560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572250104	chr8:6065569-6065570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527938384	chr8:6065570-6065571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541278056	chr8:6065613-6065614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11779303	chr8:6065615-6065616	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:122)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	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
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	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
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6054800-6055200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr8:6065400-6065800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr8:6065400-6066200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:6065400-6067000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:6069000-6070600	Weak transcription	Right Atrium	heart
6	chr8:6069600-6072800	Enhancers	Fetal Brain Male	brain
7	chr8:6070000-6071400	Enhancers	Fetal Brain Female	brain
8	chr8:6070400-6070600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:6070400-6070600	Bivalent Enhancer	Hela-S3	cervix
10	chr8:6070600-6070800	Enhancers	Right Atrium	heart
11	chr8:6070600-6071200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr8:6071400-6071800	Weak transcription	Fetal Brain Female	brain
13	chr8:6071800-6072200	Enhancers	Fetal Brain Female	brain

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