Variant report

Variant	esv3427877
Chromosome Location	chr8:3380942-3381550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557896093	chr8:3380951-3380952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576043595	chr8:3380954-3380955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543278038	chr8:3380960-3380961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374909198	chr8:3380982-3380983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs17322855	chr8:3380988-3380989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573740768	chr8:3380990-3380991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540971341	chr8:3380993-3380994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114485795	chr8:3380997-3380998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533161607	chr8:3380999-3381000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544953167	chr8:3381003-3381004	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563652851	chr8:3381012-3381013	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1542592	chr8:3381017-3381018	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs148773376	chr8:3381036-3381037	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567875382	chr8:3381037-3381038	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568107290	chr8:3381048-3381049	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375381582	chr8:3381055-3381056	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528675984	chr8:3381086-3381087	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551762258	chr8:3381087-3381088	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200186998	chr8:3381088-3381089	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116111474	chr8:3381094-3381095	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201348859	chr8:3381097-3381098	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116380364	chr8:3381104-3381105	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547464559	chr8:3381131-3381132	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373137163	chr8:3381140-3381141	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539445109	chr8:3381142-3381143	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs180897755	chr8:3381148-3381149	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569669545	chr8:3381153-3381154	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537186932	chr8:3381161-3381162	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555164261	chr8:3381164-3381165	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573819039	chr8:3381170-3381171	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10100256	chr8:3381172-3381173	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536845368	chr8:3381173-3381174	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199782998	chr8:3381174-3381175	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200480175	chr8:3381196-3381197	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577486240	chr8:3381197-3381198	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200970101	chr8:3381205-3381206	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs545016501	chr8:3381206-3381207	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs370647010	chr8:3381213-3381214	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs112035103	chr8:3381218-3381219	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs575527567	chr8:3381226-3381227	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs78656779	chr8:3381228-3381229	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs566585380	chr8:3381239-3381240	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs190941602	chr8:3381240-3381241	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs116692843	chr8:3381242-3381243	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs535601905	chr8:3381250-3381251	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs565601848	chr8:3381263-3381264	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs532822987	chr8:3381265-3381266	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs550979488	chr8:3381266-3381267	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs532963037	chr8:3381276-3381277	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs569663848	chr8:3381278-3381279	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

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
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
Lung squamous cell carcinoma	22363434	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3377200-3381000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:3377200-3381000	Weak transcription	Pancreas	Pancrea
3	chr8:3378400-3381200	Weak transcription	Gastric	stomach
4	chr8:3380400-3381000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:3381000-3381800	ZNF genes & repeats	Fetal Heart	heart
6	chr8:3381000-3381800	ZNF genes & repeats	A549	lung
7	chr8:3381000-3382000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
8	chr8:3381000-3382000	ZNF genes & repeats	Fetal Lung	lung
9	chr8:3381000-3382200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:3381000-3382200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:3381000-3382200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
12	chr8:3381000-3382200	ZNF genes & repeats	Esophagus	oesophagus
13	chr8:3381000-3382200	ZNF genes & repeats	Fetal Kidney	kidney
14	chr8:3381000-3382200	ZNF genes & repeats	Pancreas	Pancrea
15	chr8:3381200-3381600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:3381200-3381600	Active TSS	Spleen	Spleen
17	chr8:3381200-3382000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:3381200-3382200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:3381200-3382200	ZNF genes & repeats	Gastric	stomach
20	chr8:3381200-3382400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:3381400-3382200	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr8:3381400-3382200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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