Variant report

Variant	nsv971338
Chromosome Location	chr8:96415730-96416430
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	chr8:96416380-96416530	HCT-116	colon:	n/a	n/a

Variant related genes	Relation type
ENSG00000253945	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530587285	chr8:96415739-96415740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550719279	chr8:96415756-96415757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564624245	chr8:96415765-96415766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373243797	chr8:96415774-96415775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150848000	chr8:96415777-96415778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs56016250	chr8:96415795-96415796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs59218756	chr8:96415821-96415822	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs567182134	chr8:96415875-96415876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140735178	chr8:96415907-96415908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547474951	chr8:96415926-96415927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535464916	chr8:96415947-96415948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549323483	chr8:96415950-96415951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377273694	chr8:96415964-96415965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569177381	chr8:96415973-96415974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537901304	chr8:96415985-96415986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368669706	chr8:96415996-96415997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557837094	chr8:96416014-96416015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576616410	chr8:96416048-96416049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539297291	chr8:96416089-96416090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544736436	chr8:96416136-96416137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552974286	chr8:96416173-96416174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573127902	chr8:96416179-96416180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139728739	chr8:96416232-96416233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12056547	chr8:96416250-96416251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78973045	chr8:96416339-96416340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561697878	chr8:96416376-96416377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112433415	chr8:96416419-96416420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	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
abnormal development	18461090	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	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
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	17847001	CNVD
Neuropsychiatric disorder	20069037	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Colorectal cancer	21645411	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17142309	CNVD
Malignant melanoma	17260012	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96403000-96417400	Weak transcription	Aorta	Aorta
2	chr8:96415400-96415800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:96415600-96417200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:96415800-96418000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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