Variant report

Variant	esv3490943
Chromosome Location	chr9:44005506-44052504
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:130)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:130 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr9:44030517-44030875	GM12878	blood:	n/a	n/a
2	BATF	chr9:44030053-44030338	GM12878	blood:	n/a	n/a
3	BATF	chr9:44030553-44030791	GM12878	blood:	n/a	n/a
4	BATF	chr9:44012526-44012769	GM12878	blood:	n/a	n/a
5	BATF	chr9:44030085-44030326	GM12878	blood:	n/a	n/a
6	CEBPD	chr9:44005340-44005867	K562	blood:	n/a	n/a
7	CTCF	chr9:44019551-44019689	GM12891	blood:	n/a	n/a
8	CTCF	chr9:44019601-44019641	GM12892	blood:	n/a	n/a
9	CTCF	chr9:44019547-44019719	MCF-7	breast:	n/a	n/a
10	CTCF	chr9:44019467-44019725	K562	blood:	n/a	n/a
11	CTCF	chr9:44019546-44019615	GM20000	blood:	n/a	n/a
12	CTCF	chr9:44019591-44019721	Lung_OC	lung:	n/a	n/a
13	CTCF	chr9:44019563-44019675	LNCaP	prostate:	n/a	n/a
14	CTCF	chr9:44020166-44020217	LNCaP	prostate:	n/a	n/a
15	CTCF	chr9:44021753-44021792	LNCaP	prostate:	n/a	n/a
16	CTCF	chr9:44019518-44019715	A549	lung:	n/a	n/a
17	CTCF	chr9:44019539-44019645	GM13977	blood:	n/a	n/a
18	CTCF	chr9:44019503-44019621	Spleen_OC	spleen:	n/a	n/a
19	CTCF	chr9:44019551-44019721	MCF-7	breast:	n/a	n/a
20	CTCF	chr9:44023809-44023842	Kidney_OC	kidney:	n/a	n/a
21	CTCF	chr9:44019396-44019812	A549	lung:	n/a	n/a
22	CTCF	chr9:44019569-44019646	A549	lung:	n/a	n/a
23	CTCF	chr9:44019581-44019680	GM19239	blood:	n/a	n/a
24	CTCF	chr9:44019590-44019648	K562	blood:	n/a	n/a
25	CTCF	chr9:44019551-44019642	Kidney_OC	kidney:	n/a	n/a
26	CTCF	chr9:44019546-44019634	GM19240	blood:	n/a	n/a
27	CTCF	chr9:44008412-44008480	LNCaP	prostate:	n/a	n/a
28	CTCF	chr9:44019554-44019697	HepG2	liver:	n/a	n/a
29	CTCF	chr9:44018539-44018642	GM10266	blood:	n/a	n/a
30	CTCF	chr9:44019453-44019777	K562	blood:	n/a	n/a
31	CTCF	chr9:44019552-44019696	GM19238	blood:	n/a	n/a
32	CTCF	chr9:44019626-44019659	GM12878	blood:	n/a	n/a
33	CTCF	chr9:44019559-44019713	MCF-7	breast:	n/a	n/a
34	CTCF	chr9:44019478-44019741	K562	blood:	n/a	n/a
35	CTCF	chr9:44019548-44019714	Gliobla	brain:	n/a	n/a
36	CTCF	chr9:44019541-44019716	MCF-7	breast:	n/a	n/a
37	CTCF	chr9:44019537-44019709	MCF-7	breast:	n/a	n/a
38	CTCF	chr9:44019419-44019779	A549	lung:	n/a	n/a
39	CTCF	chr9:44019511-44019629	LNCaP	prostate:	n/a	n/a
40	EBF1	chr9:44015236-44015498	GM12878	blood:	n/a	n/a
41	EBF1	chr9:44015135-44015493	GM12878	blood:	n/a	n/a
42	EBF1	chr9:44018573-44018783	GM12878	blood:	n/a	n/a
43	EP300	chr9:44014227-44014522	GM12878	blood:	n/a	n/a
44	ESR1	chr9:44016345-44016616	T-47D	breast:	n/a	n/a
45	FOSL2	chr9:44040154-44040435	HepG2	liver:	n/a	n/a
46	FOSL2	chr9:44044511-44044778	HepG2	liver:	n/a	n/a
47	FOSL2	chr9:44019430-44019794	HepG2	liver:	n/a	chr9:44019526-44019535
48	FOSL2	chr9:44032825-44033185	HepG2	liver:	n/a	n/a
49	FOSL2	chr9:44032826-44033299	HepG2	liver:	n/a	n/a
50	FOXA1	chr9:44032829-44033290	HepG2	liver:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNTNAP3B-3	chr9:44011053-44011839	NONHSAT131369
2	lnc-FAM75A6-7	chr9:44046989-44047817	NONHSAT131371

No data

Variant related genes	Relation type
ENSG00000229079	TF binding region
CYP4F60P	TF binding region
SNX18P5	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35320756	chr9:44010344-44010345	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs34097536	chr9:44010396-44010397	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs62539497	chr9:44011456-44011457	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs201420628	chr9:44011487-44011488	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs376404969	chr9:44011536-44011537	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs369176652	chr9:44011552-44011553	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs2444176	chr9:44022456-44022457	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs371648383	chr9:44023782-44023783	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs373634971	chr9:44023783-44023784	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs377069173	chr9:44023786-44023787	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs370352423	chr9:44023824-44023825	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs375140677	chr9:44023829-44023830	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs62539525	chr9:44023833-44023834	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs62539526	chr9:44024216-44024217	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs62536267	chr9:44047497-44047498	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs62536270	chr9:44049031-44049032	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs62536273	chr9:44050270-44050271	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs62536274	chr9:44050282-44050283	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs62536275	chr9:44050448-44050449	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Sezary syndrome	18413736	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	21346763	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Lung adenocarcinoma	17086460	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Lung cancer	17086460	CNVD
Rhabdomyosarcoma	16790082	CNVD
Breast cancer	22522925	CNVD

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

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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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