Variant report

Variant	esv17765
Chromosome Location	chr9:84527569-84566607
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr9:84532243-84532605	GM12878	blood:	n/a	chr9:84532461-84532472
2	CEBPB	chr9:84529493-84529693	HepG2	liver:	n/a	chr9:84529585-84529596
3	CEBPB	chr9:84529518-84529680	IMR90	lung:	n/a	chr9:84529585-84529596
4	CEBPB	chr9:84530997-84531232	IMR90	lung:	n/a	n/a
5	CTCF	chr9:84533150-84533206	GM13976	blood:	n/a	n/a
6	CTCF	chr9:84563336-84563355	LNCaP	prostate:	n/a	n/a
7	CTCF	chr9:84535739-84535829	Spleen_OC	spleen:	n/a	n/a
8	CTCF	chr9:84548421-84548448	Spleen_OC	spleen:	n/a	n/a
9	CTCF	chr9:84540843-84540886	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr9:84554429-84554466	LNCaP	prostate:	n/a	n/a
11	CTCF	chr9:84563982-84564047	LNCaP	prostate:	n/a	n/a
12	CTCF	chr9:84536967-84537045	GM13976	blood:	n/a	n/a
13	CTCF	chr9:84562108-84562179	Spleen_OC	spleen:	n/a	n/a
14	CTCF	chr9:84529698-84529751	GM10266	blood:	n/a	n/a
15	CTCF	chr9:84529710-84529755	Kidney_OC	kidney:	n/a	n/a
16	CTCF	chr9:84550703-84550791	LNCaP	prostate:	n/a	n/a
17	CTCF	chr9:84556513-84556592	LNCaP	prostate:	n/a	n/a
18	IRF4	chr9:84532288-84532608	GM12878	blood:	n/a	n/a
19	POLR2A	chr9:84544596-84544658	A549	lung:	n/a	n/a
20	SPI1	chr9:84548411-84548915	GM12891	blood:	n/a	n/a
21	SPI1	chr9:84563488-84564031	GM12891	blood:	n/a	n/a
22	SPI1	chr9:84548396-84548939	GM12891	blood:	n/a	n/a
23	SPI1	chr9:84563503-84563995	GM12891	blood:	n/a	n/a
24	SPI1	chr9:84563486-84563981	GM12878	blood:	n/a	n/a
25	SPI1	chr9:84533385-84533843	GM12891	blood:	n/a	n/a
26	SPI1	chr9:84533324-84533867	GM12891	blood:	n/a	n/a
27	SPI1	chr9:84533397-84533774	GM12878	blood:	n/a	n/a
28	SPI1	chr9:84563600-84563938	GM12878	blood:	n/a	n/a
29	SPI1	chr9:84548508-84548846	GM12878	blood:	n/a	n/a
30	SPI1	chr9:84548279-84549034	GM12878	blood:	n/a	n/a
31	SPI1	chr9:84533357-84533816	GM12878	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:84528281-84528331	K562	blood:	n/a
2	chr9:84528281-84528331	MCF10A-Er-Src	breast:	n/a
3	chr9:84528281-84528331	SK-N-SH	brain:	n/a
4	chr9:84528281-84528331	IMR90	lung:	fetal
5	chr9:84528281-84528331	A549	lung:	n/a
6	chr9:84532813-84532863	HCF	heart:	n/a
7	chr9:84528281-84528331	BJ	skin:	n/a
8	chr9:84527546-84527596	NHDF-neo	bronchial:	n/a
9	chr9:84532813-84532863	HPAEpiC	pulmonary alveolar:	n/a
10	chr9:84528281-84528331	AG04449	skin:	fetal
11	chr9:84532813-84532863	GM12891	blood:	n/a
12	chr9:84528281-84528331	HRPEpiC	eye:	n/a
13	chr9:84527546-84527596	K562	blood:	n/a
14	chr9:84528281-84528331	HCF	heart:	n/a
15	chr9:84527546-84527596	ProgFib	skin:	n/a
16	chr9:84532813-84532863	PFSK-1	brain:	n/a
17	chr9:84532813-84532863	HCT-116	colon:	n/a
18	chr9:84527546-84527596	Hela-S3	cervix:	n/a
19	chr9:84532813-84532863	GM12892	blood:	n/a
20	chr9:84528281-84528331	PrEC	prostate:	n/a
21	chr9:84528281-84528331	MCF-7	breast:	n/a
22	chr9:84532813-84532863	NH-A	brain:	n/a
23	chr9:84532813-84532863	MCF10A-Er-Src	breast:	n/a
24	chr9:84527546-84527596	AoSMC	blood vessel:	n/a
25	chr9:84532813-84532863	BJ	skin:	n/a
26	chr9:84527546-84527596	HEEpiC	esophagus:	n/a
27	chr9:84528281-84528331	GM12891	blood:	n/a
28	chr9:84527546-84527596	U87	brain:	n/a
29	chr9:84532813-84532863	IMR90	lung:	fetal
30	chr9:84528281-84528331	HEEpiC	esophagus:	n/a
31	chr9:84527546-84527596	H1-hESC	embryonic stem cell:	embryo
32	chr9:84528281-84528331	LNCaP	prostate:	n/a
33	chr9:84532813-84532863	HMEC	breast:	n/a
34	chr9:84532813-84532863	LNCaP	prostate:	n/a
35	chr9:84532813-84532863	AG10803	skin:	n/a
36	chr9:84527546-84527596	HEK293	kidney:	embryo
37	chr9:84527546-84527596	SK-N-SH	brain:	n/a
38	chr9:84532813-84532863	CMK	blood:	n/a
39	chr9:84528281-84528331	SK-N-SH_RA	brain:	n/a
40	chr9:84527546-84527596	AG10803	skin:	n/a
41	chr9:84532813-84532863	RPTEC	kidney:	n/a
42	chr9:84527546-84527596	RPTEC	kidney:	n/a
43	chr9:84527546-84527596	GM19239	blood:	n/a
44	chr9:84528281-84528331	NHDF-neo	bronchial:	n/a
45	chr9:84527546-84527596	Caco-2	colon:	n/a
46	chr9:84528281-84528331	H1-hESC	embryonic stem cell:	embryo
47	chr9:84532813-84532863	AG09309	skin:	n/a
48	chr9:84532813-84532863	AoSMC	blood vessel:	n/a
49	chr9:84527546-84527596	ECC-1	luminal epithelium:	n/a
50	chr9:84527546-84527596	HRE	kidney:	n/a

No data

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM75B-1	chr9:84561305-84561401	ENSG00000267559.1
2	lnc-FAM75D1-5	chr9:84530307-84534842	NR_026851
3	lnc-FAM75D1-5	chr9:84529963-84530023	NR_026851
4	lnc-FAM75D1-5	chr9:84528352-84528572	NR_026851
5	lnc-FAM75B-1	chr9:84561353-84561401	ENSG00000267559.1
6	lnc-FAM75D1-5	chr9:84529316-84529361	NR_026851
7	lnc-FAM75B-1	chr9:84545141-84546309	ENSG00000267559.1

No data

Variant related genes	Relation type
SPATA31D5P	TF binding region
SPATA31D4	TF binding region
SPATA31D3	TF binding region
ENSG00000230846	TF binding region
SPATA31D5P	CpG island
SPATA31D4	CpG island
SPATA31D3	CpG island
ENSG00000230846	CpG island

Extended variants
information (count: 289 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551739086	chr9:84527594-84527595	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs569974804	chr9:84527661-84527662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537297003	chr9:84527694-84527695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556305416	chr9:84527723-84527724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568408342	chr9:84527751-84527752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370400891	chr9:84527769-84527770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185548290	chr9:84527774-84527775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537369946	chr9:84528281-84528282	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs573645172	chr9:84528288-84528289	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs573595761	chr9:84528300-84528301	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs138629135	chr9:84528394-84528395	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs563509893	chr9:84528426-84528427	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs530710263	chr9:84528427-84528428	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs549057290	chr9:84528436-84528437	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs561229299	chr9:84528464-84528465	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs368673679	chr9:84528491-84528492	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs367818474	chr9:84528509-84528510	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs547407597	chr9:84528532-84528533	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs368327587	chr9:84528543-84528544	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs72498520	chr9:84528547-84528548	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs141534101	chr9:84528568-84528569	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs41304238	chr9:84529319-84529320	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs551500224	chr9:84529342-84529343	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs570143953	chr9:84529352-84529353	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs146167675	chr9:84529965-84529966	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs567877232	chr9:84529979-84529980	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs570912074	chr9:84529982-84529983	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs528693928	chr9:84530000-84530001	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs547360273	chr9:84530007-84530008	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs528558233	chr9:84530314-84530315	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs200441822	chr9:84530318-84530319	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs142129625	chr9:84530319-84530320	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs565451825	chr9:84530337-84530338	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs113953702	chr9:84530340-84530341	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs12345231	chr9:84530366-84530367	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs568879206	chr9:84530377-84530378	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs535859898	chr9:84530379-84530380	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs199691053	chr9:84530389-84530390	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs41277923	chr9:84530396-84530397	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs12345266	chr9:84530412-84530413	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs558344720	chr9:84530428-84530429	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs576614147	chr9:84530442-84530443	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs538169896	chr9:84530467-84530468	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs111520975	chr9:84530476-84530477	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs114426311	chr9:84530498-84530499	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs191988835	chr9:84530502-84530503	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs542667244	chr9:84530510-84530511	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs561222260	chr9:84530531-84530532	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs573398951	chr9:84530566-84530567	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs540698411	chr9:84530580-84530581	Enhancers	lncRNA	n/a	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:84526600-84527800	Enhancers	Liver	Liver
2	chr9:84530400-84531000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr9:84530400-84531200	Enhancers	HSMMtube	muscle

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