Variant report

Variant	esv1830069
Chromosome Location	chr8:65235506-65263721
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:65241123-65241182	GM20000	blood:	n/a	n/a
2	GATA3	chr8:65256084-65256221	SH-SY5Y	brain:	n/a	n/a
3	MAFF	chr8:65253848-65254047	HepG2	liver:	n/a	n/a
4	MAFF	chr8:65254886-65255179	HepG2	liver:	n/a	chr8:65255026-65255044
5	MAFK	chr8:65254881-65255142	IMR90	lung:	n/a	n/a
6	MAFK	chr8:65253808-65254048	HepG2	liver:	n/a	n/a
7	MAFK	chr8:65254864-65255192	HepG2	liver:	n/a	n/a
8	MAFK	chr8:65254857-65255188	HepG2	liver:	n/a	n/a
9	MAFK	chr8:65253769-65254030	HepG2	liver:	n/a	n/a
10	MYC	chr8:65257681-65257740	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr8:65240455-65240633	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr8:65257296-65257496	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr8:65238835-65239035	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr8:65253836-65253895	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr8:65259467-65259540	GM12878	blood:	n/a	n/a
16	POLR2A	chr8:65237340-65237580	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr8:65259867-65260067	MCF10A-Er-Src	breast:	n/a	n/a
18	SPI1	chr8:65254413-65254722	HL-60	blood:	n/a	n/a
19	STAT3	chr8:65256974-65257049	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr8:65238530-65238707	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT3	chr8:65243949-65244044	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-32K4.2.1-3	chr8:65244484-65244709	NONHSAT126955

Variant related genes	Relation type
COX6CP8	TF binding region

Extended variants
information (count: 1003 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1003 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10957308	chr8:65235506-65235507	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546909555	chr8:65235524-65235525	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs552675391	chr8:65235543-65235544	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs568380208	chr8:65235560-65235561	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs184887663	chr8:65235571-65235572	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs556938387	chr8:65235579-65235580	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs189004229	chr8:65235594-65235595	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs539156715	chr8:65235617-65235618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs535679929	chr8:65235697-65235698	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs577018931	chr8:65235706-65235707	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs529992399	chr8:65235715-65235716	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs541267583	chr8:65235730-65235731	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs572474707	chr8:65235745-65235746	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs575101964	chr8:65235754-65235755	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs375192573	chr8:65235760-65235761	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs563716024	chr8:65235831-65235832	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs530981282	chr8:65235844-65235845	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs368231831	chr8:65235845-65235846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs143112949	chr8:65235875-65235876	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs201981639	chr8:65235888-65235889	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs544614509	chr8:65235927-65235928	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs79942753	chr8:65235929-65235930	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs564755198	chr8:65235937-65235938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs148255139	chr8:65235942-65235943	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs546801737	chr8:65235954-65235955	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs141190708	chr8:65235977-65235978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs150756851	chr8:65236000-65236001	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs12335124	chr8:65236018-65236019	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs79940268	chr8:65236040-65236041	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs137893108	chr8:65236052-65236053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs551051714	chr8:65236063-65236064	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs111286918	chr8:65236107-65236108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs78296064	chr8:65236186-65236187	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs180956612	chr8:65236187-65236188	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs563763548	chr8:65236191-65236192	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs142311773	chr8:65236200-65236201	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs529366248	chr8:65236206-65236207	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs574996643	chr8:65236257-65236258	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs113440995	chr8:65236282-65236283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs12334830	chr8:65236314-65236315	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs557417392	chr8:65236326-65236327	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs575702170	chr8:65236342-65236343	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs562685838	chr8:65236386-65236387	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs370505960	chr8:65236476-65236477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531711734	chr8:65236490-65236491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71529126	chr8:65236496-65236497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566537771	chr8:65236497-65236498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573397217	chr8:65236556-65236557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs118123755	chr8:65236593-65236594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184590089	chr8:65236611-65236612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Salivary gland tumor	18059337	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65235400-65235800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr8:65235400-65236400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:65235400-65236400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:65236400-65248000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:65248000-65249600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:65248200-65248800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:65248200-65249000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:65249600-65260000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:65251400-65253800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:65253800-65254600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:65254200-65255200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:65254400-65255600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr8:65254600-65255200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:65254600-65257200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:65255200-65255400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:65257200-65257800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:65257800-65260200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:65258400-65263600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:65259000-65259800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:65259800-65260200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:65260000-65260600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:65260200-65260400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:65260200-65261000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:65260400-65263400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:65260600-65264200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:65261000-65271800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:65263400-65264000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:65263600-65264600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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