Variant report

Variant	esv1851025
Chromosome Location	chr9:84542993-84566733
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:84562108-84562179	Spleen_OC	spleen:	n/a	n/a
2	CTCF	chr9:84563336-84563355	LNCaP	prostate:	n/a	n/a
3	CTCF	chr9:84548421-84548448	Spleen_OC	spleen:	n/a	n/a
4	CTCF	chr9:84556513-84556592	LNCaP	prostate:	n/a	n/a
5	CTCF	chr9:84563982-84564047	LNCaP	prostate:	n/a	n/a
6	CTCF	chr9:84554429-84554466	LNCaP	prostate:	n/a	n/a
7	CTCF	chr9:84550703-84550791	LNCaP	prostate:	n/a	n/a
8	POLR2A	chr9:84544596-84544658	A549	lung:	n/a	n/a
9	SPI1	chr9:84548396-84548939	GM12891	blood:	n/a	n/a
10	SPI1	chr9:84563488-84564031	GM12891	blood:	n/a	n/a
11	SPI1	chr9:84548508-84548846	GM12878	blood:	n/a	n/a
12	SPI1	chr9:84563503-84563995	GM12891	blood:	n/a	n/a
13	SPI1	chr9:84548411-84548915	GM12891	blood:	n/a	n/a
14	SPI1	chr9:84563486-84563981	GM12878	blood:	n/a	n/a
15	SPI1	chr9:84563600-84563938	GM12878	blood:	n/a	n/a
16	SPI1	chr9:84548279-84549034	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM75B-1	chr9:84561305-84561401	ENSG00000267559.1
2	lnc-FAM75B-1	chr9:84545141-84546309	ENSG00000267559.1
3	lnc-FAM75B-1	chr9:84561353-84561401	ENSG00000267559.1

No data

Variant related genes	Relation type
SPATA31D4	TF binding region
SPATA31D3	TF binding region
ENSG00000230846	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 69 )

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	rs7040763	chr9:84545930-84545931	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs574814813	chr9:84548297-84548298	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs542096235	chr9:84548344-84548345	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs200152653	chr9:84548590-84548591	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs201282784	chr9:84548648-84548649	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs559749964	chr9:84548703-84548704	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs200905411	chr9:84548723-84548724	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs1887453	chr9:84548944-84548945	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs545624968	chr9:84548956-84548957	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs144258741	chr9:84549000-84549001	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs564209476	chr9:84549002-84549003	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs531265314	chr9:84549005-84549006	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs9644989	chr9:84549026-84549027	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs550014200	chr9:84549028-84549029	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs561835010	chr9:84549029-84549030	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs529241610	chr9:84549033-84549034	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs547707163	chr9:84549034-84549035	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Urothelial cell carcinoma	18451213	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Renal cell carcinoma	18765545	CNVD
Astrocytoma	22246337	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Epilepsy	20502679	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Medulloblastoma	21163964	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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