Variant report

Variant	nsv971310
Chromosome Location	chr8:55608775-55612003
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	E2F4	chr8:55611800-55612365	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000253114	TF binding region

Extended variants
information (count: 137 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371147062	chr8:55608836-55608837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551777877	chr8:55608900-55608901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78743284	chr8:55608983-55608984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs55799109	chr8:55608994-55608995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562559315	chr8:55608995-55608996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574910212	chr8:55608997-55608998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34850363	chr8:55609009-55609010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145094026	chr8:55609077-55609078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554252212	chr8:55609104-55609105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577310831	chr8:55609110-55609111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185844900	chr8:55609162-55609163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558358999	chr8:55609200-55609201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576211356	chr8:55609239-55609240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148703435	chr8:55609241-55609242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188208439	chr8:55609244-55609245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560500888	chr8:55609255-55609256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529700732	chr8:55609262-55609263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs193159100	chr8:55609314-55609315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56059151	chr8:55609327-55609328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560186481	chr8:55609328-55609329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183882851	chr8:55609329-55609330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552786851	chr8:55609334-55609335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569486162	chr8:55609339-55609340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532017238	chr8:55609340-55609341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548904849	chr8:55609347-55609348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111820667	chr8:55609351-55609352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188609699	chr8:55609377-55609378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181308307	chr8:55609401-55609402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572631314	chr8:55609405-55609406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570903398	chr8:55609449-55609450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539584857	chr8:55609491-55609492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558297715	chr8:55609540-55609541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144508433	chr8:55609565-55609566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183567295	chr8:55609591-55609592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554431438	chr8:55609597-55609598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574687710	chr8:55609600-55609601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114098222	chr8:55609601-55609602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371991222	chr8:55609605-55609606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189654136	chr8:55609622-55609623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553194910	chr8:55609625-55609626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545934207	chr8:55609639-55609640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373832957	chr8:55609658-55609659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs55969713	chr8:55609659-55609660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564842357	chr8:55609666-55609667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548841886	chr8:55609667-55609668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182070807	chr8:55609701-55609702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528006963	chr8:55609749-55609750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547757123	chr8:55609766-55609767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199654233	chr8:55609768-55609769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570774333	chr8:55609784-55609785	Weak transcription	n/a	n/a	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
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
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
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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:55598800-55615600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:55604200-55618600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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