Variant report

Variant	esv3479382
Chromosome Location	chr8:65244383-65257241
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	GATA3	chr8:65256084-65256221	SH-SY5Y	brain:	n/a	n/a
2	MAFF	chr8:65253848-65254047	HepG2	liver:	n/a	n/a
3	MAFF	chr8:65254886-65255179	HepG2	liver:	n/a	chr8:65255026-65255044
4	MAFK	chr8:65254864-65255192	HepG2	liver:	n/a	n/a
5	MAFK	chr8:65253769-65254030	HepG2	liver:	n/a	n/a
6	MAFK	chr8:65254881-65255142	IMR90	lung:	n/a	n/a
7	MAFK	chr8:65254857-65255188	HepG2	liver:	n/a	n/a
8	MAFK	chr8:65253808-65254048	HepG2	liver:	n/a	n/a
9	POLR2A	chr8:65253836-65253895	MCF10A-Er-Src	breast:	n/a	n/a
10	SPI1	chr8:65254413-65254722	HL-60	blood:	n/a	n/a
11	STAT3	chr8:65256974-65257049	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: 476 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:476 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545593699	chr8:65244400-65244401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112525079	chr8:65244462-65244463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17223648	chr8:65244543-65244544	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs35797159	chr8:65244572-65244573	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs80275178	chr8:65244596-65244597	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs72652689	chr8:65244625-65244626	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs142214537	chr8:65244632-65244633	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs10101017	chr8:65244654-65244655	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs556017833	chr8:65244667-65244668	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs577538239	chr8:65244693-65244694	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs564336516	chr8:65244797-65244798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544953058	chr8:65244826-65244827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184604392	chr8:65244851-65244852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571078117	chr8:65244871-65244872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572054344	chr8:65244877-65244878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542349911	chr8:65244897-65244898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560999844	chr8:65244899-65244900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190551300	chr8:65244900-65244901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150966482	chr8:65244905-65244906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs193135883	chr8:65244928-65244929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544273336	chr8:65244994-65244995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563144363	chr8:65245009-65245010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114802122	chr8:65245075-65245076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185257963	chr8:65245102-65245103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1837193	chr8:65245116-65245117	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs10101906	chr8:65245163-65245164	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs77983877	chr8:65245173-65245174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140396266	chr8:65245194-65245195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150343072	chr8:65245201-65245202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555954680	chr8:65245274-65245275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190181154	chr8:65245307-65245308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13254698	chr8:65245350-65245351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs146491282	chr8:65245414-65245415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181098435	chr8:65245464-65245465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199859198	chr8:65245482-65245483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542673730	chr8:65245511-65245512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72652691	chr8:65245522-65245523	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs140890481	chr8:65245525-65245526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568855619	chr8:65245582-65245583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563079089	chr8:65245585-65245586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533619809	chr8:65245663-65245664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545366625	chr8:65245665-65245666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560871694	chr8:65245687-65245688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116403842	chr8:65245697-65245698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535521997	chr8:65245728-65245729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74746038	chr8:65245745-65245746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs118045420	chr8:65245798-65245799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199941804	chr8:65245805-65245806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531700460	chr8:65245865-65245866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557928102	chr8:65245878-65245879	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65236400-65248000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:65248000-65249600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:65248200-65248800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:65248200-65249000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:65249600-65260000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:65251400-65253800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:65253800-65254600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:65254200-65255200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:65254400-65255600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr8:65254600-65255200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:65254600-65257200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:65255200-65255400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:65257200-65257800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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