Variant report

Variant	esv2761398
Chromosome Location	chr8:3114826-3129012
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	chr8:3121428..3123841-chr8:3126010..3128450,2	K562	blood:
2	chr8:3121428..3123841-chr8:3126010..3128450,2	K562	blood:

Extended variants
information (count: 109 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183874872	chr8:3125206-3125207	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs567113263	chr8:3125222-3125223	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs536067840	chr8:3125237-3125238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs555953144	chr8:3125241-3125242	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs375788976	chr8:3125243-3125244	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs73187518	chr8:3125251-3125252	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs573593284	chr8:3125271-3125272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs577946471	chr8:3125294-3125295	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs540203197	chr8:3125298-3125299	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs560004405	chr8:3125303-3125304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs558586774	chr8:3125307-3125308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs530815201	chr8:3125311-3125312	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs13278336	chr8:3125319-3125320	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs531341717	chr8:3125326-3125327	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs141074321	chr8:3125327-3125328	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs571202957	chr8:3125341-3125342	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs527269927	chr8:3125345-3125346	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs190500728	chr8:3125350-3125351	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs149828144	chr8:3125359-3125360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs536131367	chr8:3125368-3125369	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs556241651	chr8:3125374-3125375	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs569455838	chr8:3125392-3125393	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs530108680	chr8:3126200-3126201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6985378	chr8:3126213-3126214	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs569937231	chr8:3126215-3126216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543146949	chr8:3126227-3126228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538954766	chr8:3126252-3126253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558567121	chr8:3126255-3126256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556545918	chr8:3126264-3126265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139621167	chr8:3126265-3126266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149984938	chr8:3126309-3126310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183133251	chr8:3126313-3126314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574605557	chr8:3126339-3126340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373570793	chr8:3126343-3126344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78636596	chr8:3126348-3126349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144209168	chr8:3126384-3126385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576741271	chr8:3126388-3126389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113130456	chr8:3126398-3126399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375573888	chr8:3126420-3126421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545724514	chr8:3126472-3126473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370187461	chr8:3126497-3126498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370168735	chr8:3126499-3126500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187063073	chr8:3126500-3126501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191837064	chr8:3126503-3126504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs13264410	chr8:3126533-3126534	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs545427260	chr8:3126536-3126537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111646286	chr8:3126541-3126542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113466995	chr8:3126548-3126549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76948139	chr8:3126551-3126552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563745114	chr8:3126563-3126564	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

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
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	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
Ovarian cancer	22355333	CNVD
Breast cancer	21364760	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
Schizophrenia	19805367	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3125200-3125400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:3126200-3127000	Enhancers	Fetal Muscle Leg	muscle

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