Variant report

Variant	nsv982134
Chromosome Location	chr8:51075483-51082232
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	JUN	chr8:51077436-51077634	HepG2	liver:	n/a	chr8:51077474-51077481 chr8:51077472-51077482 chr8:51077469-51077480 chr8:51077471-51077483 chr8:51077473-51077482 chr8:51077473-51077481
2	JUND	chr8:51077360-51077626	HepG2	liver:	n/a	chr8:51077474-51077481 chr8:51077472-51077482 chr8:51077471-51077482 chr8:51077469-51077480 chr8:51077471-51077483 chr8:51077473-51077482 chr8:51077473-51077481
3	MAZ	chr8:51080855-51080878	GM12878	blood:	n/a	n/a
4	POLR2A	chr8:51081845-51082045	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr8:51081112-51081446	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8orf22-14	chr8:51076059-51076529	NONHSAT126523

Variant related genes	Relation type
SNTG1	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16914351	chr8:51075489-51075490	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34406361	chr8:51075563-51075564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375777192	chr8:51076061-51076062	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs557391727	chr8:51076077-51076078	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs369832730	chr8:51076088-51076089	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs543189630	chr8:51076097-51076098	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs373105932	chr8:51076160-51076161	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs555570662	chr8:51076163-51076164	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs573770466	chr8:51076189-51076190	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs377226479	chr8:51076190-51076191	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs541290995	chr8:51076197-51076198	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs559388143	chr8:51076286-51076287	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs34997857	chr8:51076290-51076291	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs200686333	chr8:51076348-51076349	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs73676252	chr8:51076384-51076385	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs182971769	chr8:51076387-51076388	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs550385127	chr8:51076396-51076397	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs568608983	chr8:51076494-51076495	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs541643124	chr8:51080877-51080878	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs559931993	chr8:51081125-51081126	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs142288075	chr8:51081178-51081179	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs548410810	chr8:51081197-51081198	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs566327251	chr8:51081223-51081224	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs534400470	chr8:51081269-51081270	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs530787131	chr8:51081281-51081282	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs559282261	chr8:51081282-51081283	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs571206003	chr8:51081330-51081331	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs550713665	chr8:51081353-51081354	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs537420892	chr8:51081376-51081377	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs146786387	chr8:51081379-51081380	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs533694397	chr8:51081854-51081855	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs112234111	chr8:51081858-51081859	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs146612974	chr8:51081878-51081879	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs141025116	chr8:51081944-51081945	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs117281507	chr8:51081987-51081988	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs115376042	chr8:51082041-51082042	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51075200-51075600	Enhancers	Spleen	Spleen

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