Variant report

Variant	nsv971311
Chromosome Location	chr8:58098506-58104660
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:58101095-58101113	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr8:58101100-58101250	BE2_C	brain:	n/a	n/a
3	CTCF	chr8:58101040-58101190	K562	blood:	n/a	n/a
4	CTCF	chr8:58101020-58101170	HepG2	liver:	n/a	n/a
5	CTCF	chr8:58100977-58101320	K562	blood:	n/a	n/a
6	CTCF	chr8:58101000-58101150	HCT-116	colon:	n/a	n/a
7	CTCF	chr8:58101060-58101210	HEK293	kidney:	n/a	n/a
8	CTCF	chr8:58101000-58101150	HepG2	liver:	n/a	n/a
9	CTCF	chr8:58101090-58101164	HepG2	liver:	n/a	n/a
10	CTCF	chr8:58103153-58103176	GM10248	blood:	n/a	n/a
11	CTCF	chr8:58101074-58101208	K562	blood:	n/a	n/a
12	MAFF	chr8:58101098-58101176	HepG2	liver:	n/a	chr8:58101131-58101149
13	MAX	chr8:58103636-58103681	NB4	blood:	n/a	n/a
14	MXI1	chr8:58100745-58100879	Hela-S3	cervix:	n/a	n/a
15	MYC	chr8:58100448-58100585	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr8:58104367-58104496	ProgFib	skin:	n/a	n/a
17	POLR2A	chr8:58101549-58101573	A549	lung:	n/a	n/a
18	POLR2A	chr8:58101578-58101599	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:58098067..58099836-chr8:58101928..58103636,2	K562	blood:
2	chr8:58098067..58099836-chr8:58101928..58103636,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253301	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575466136	chr8:58101149-58101150	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs570563158	chr8:58101165-58101166	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs541673629	chr8:58101189-58101190	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs181552851	chr8:58101216-58101217	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs186726433	chr8:58101309-58101310	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs540831946	chr8:58101550-58101551	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs182869636	chr8:58101560-58101561	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs532512058	chr8:58101594-58101595	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs111956349	chr8:58103648-58103649	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs140121925	chr8:58104379-58104380	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs546856496	chr8:58104392-58104393	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs7837180	chr8:58104423-58104424	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs567800047	chr8:58104439-58104440	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs530307288	chr8:58104441-58104442	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs112732006	chr8:58104464-58104465	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs558303411	chr8:58104482-58104483	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs143814753	chr8:58104487-58104488	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
Melanoma	22183965	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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