Variant report

Variant	esv1800459
Chromosome Location	chr9:84531800-84564271
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:62)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 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	CTCF	chr9:84554429-84554466	LNCaP	prostate:	n/a	n/a
3	CTCF	chr9:84535739-84535829	Spleen_OC	spleen:	n/a	n/a
4	CTCF	chr9:84550703-84550791	LNCaP	prostate:	n/a	n/a
5	CTCF	chr9:84540843-84540886	Kidney_OC	kidney:	n/a	n/a
6	CTCF	chr9:84562108-84562179	Spleen_OC	spleen:	n/a	n/a
7	CTCF	chr9:84536967-84537045	GM13976	blood:	n/a	n/a
8	CTCF	chr9:84563982-84564047	LNCaP	prostate:	n/a	n/a
9	CTCF	chr9:84533150-84533206	GM13976	blood:	n/a	n/a
10	CTCF	chr9:84563336-84563355	LNCaP	prostate:	n/a	n/a
11	CTCF	chr9:84548421-84548448	Spleen_OC	spleen:	n/a	n/a
12	CTCF	chr9:84556513-84556592	LNCaP	prostate:	n/a	n/a
13	IRF4	chr9:84532288-84532608	GM12878	blood:	n/a	n/a
14	POLR2A	chr9:84544596-84544658	A549	lung:	n/a	n/a
15	SPI1	chr9:84563600-84563938	GM12878	blood:	n/a	n/a
16	SPI1	chr9:84533324-84533867	GM12891	blood:	n/a	n/a
17	SPI1	chr9:84563488-84564031	GM12891	blood:	n/a	n/a
18	SPI1	chr9:84563503-84563995	GM12891	blood:	n/a	n/a
19	SPI1	chr9:84548396-84548939	GM12891	blood:	n/a	n/a
20	SPI1	chr9:84563486-84563981	GM12878	blood:	n/a	n/a
21	SPI1	chr9:84533385-84533843	GM12891	blood:	n/a	n/a
22	SPI1	chr9:84533357-84533816	GM12878	blood:	n/a	n/a
23	SPI1	chr9:84533397-84533774	GM12878	blood:	n/a	n/a
24	SPI1	chr9:84548508-84548846	GM12878	blood:	n/a	n/a
25	SPI1	chr9:84548279-84549034	GM12878	blood:	n/a	n/a
26	SPI1	chr9:84548411-84548915	GM12891	blood:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:84532813-84532863	HCPEpiC	choroid plexus:	n/a
2	chr9:84532813-84532863	HCPEpiC	choroid plexus:	n/a
3	chr9:84532813-84532863	NHBE	bronchial:	n/a
4	chr9:84532813-84532863	BJ	skin:	n/a
5	chr9:84532813-84532863	Jurkat	blood:	n/a
6	chr9:84532813-84532863	ECC-1	luminal epithelium:	n/a
7	chr9:84532813-84532863	AG09309	skin:	n/a
8	chr9:84532813-84532863	HPAEpiC	pulmonary alveolar:	n/a
9	chr9:84532813-84532863	PFSK-1	brain:	n/a
10	chr9:84532813-84532863	H1-hESC	embryonic stem cell:	embryo
11	chr9:84532813-84532863	GM12878	blood:	n/a
12	chr9:84532813-84532863	HCF	heart:	n/a
13	chr9:84532813-84532863	HEEpiC	esophagus:	n/a
14	chr9:84532813-84532863	LNCaP	prostate:	n/a
15	chr9:84532813-84532863	Caco-2	colon:	n/a
16	chr9:84532813-84532863	HNPCEpiC	eye:	n/a
17	chr9:84532813-84532863	CMK	blood:	n/a
18	chr9:84532813-84532863	HRE	kidney:	n/a
19	chr9:84532813-84532863	PANC-1	pancreas:	n/a
20	chr9:84532813-84532863	GM12891	blood:	n/a
21	chr9:84532813-84532863	HCT-116	colon:	n/a
22	chr9:84532813-84532863	GM19239	blood:	n/a
23	chr9:84532813-84532863	ovcar-3	ovarian:	n/a
24	chr9:84532813-84532863	SAEC	small airway:	n/a
25	chr9:84532813-84532863	RPTEC	kidney:	n/a
26	chr9:84532813-84532863	AG04449	skin:	fetal
27	chr9:84532813-84532863	SKMC	muscle:	n/a
28	chr9:84532813-84532863	HCM	heart:	n/a
29	chr9:84532813-84532863	IMR90	lung:	fetal
30	chr9:84532813-84532863	SK-N-MC	brain:	n/a
31	chr9:84532813-84532863	HAEpiC	amniotic membrane:	n/a
32	chr9:84532813-84532863	HRCEpiC	kidney:	n/a
33	chr9:84532813-84532863	AG04450	lung:	fetal
34	chr9:84532813-84532863	GM06990	blood:	n/a
35	chr9:84532813-84532863	GM12892	blood:	n/a
36	chr9:84532813-84532863	MCF-7	breast:	n/a
37	chr9:84532813-84532863	SK-N-SH	brain:	n/a
38	chr9:84532813-84532863	MCF10A-Er-Src	breast:	n/a
39	chr9:84532813-84532863	BE2_C	brain:	n/a
40	chr9:84532813-84532863	HRPEpiC	eye:	n/a
41	chr9:84532813-84532863	NB4	blood:	n/a
42	chr9:84532813-84532863	NT2-D1	testis:	n/a
43	chr9:84532813-84532863	SK-N-SH_RA	brain:	n/a
44	chr9:84532813-84532863	HIPEpiC	eye:	n/a
45	chr9:84532813-84532863	Hela-S3	cervix:	n/a
46	chr9:84532813-84532863	U87	brain:	n/a
47	chr9:84532813-84532863	AoSMC	blood vessel:	n/a
48	chr9:84532813-84532863	HepG2	liver:	n/a
49	chr9:84532813-84532863	NHDF-neo	bronchial:	n/a
50	chr9:84532813-84532863	AG09319	gingival:	n/a

No data

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM75D1-5	chr9:84530307-84534842	NR_026851
2	lnc-FAM75B-1	chr9:84561353-84561401	ENSG00000267559.1
3	lnc-FAM75B-1	chr9:84545141-84546309	ENSG00000267559.1
4	lnc-FAM75B-1	chr9:84561305-84561401	ENSG00000267559.1

No data

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

Extended variants
information (count: 163 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:163 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543192206	chr9:84531816-84531817	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs561828487	chr9:84531837-84531838	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs528949091	chr9:84531852-84531853	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs142323299	chr9:84531858-84531859	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs150503868	chr9:84531887-84531888	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs533299289	chr9:84531903-84531904	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs551631928	chr9:84531907-84531908	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs570803034	chr9:84531960-84531961	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs538229225	chr9:84531965-84531966	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs549866778	chr9:84531966-84531967	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs386735604	chr9:84531982-84531983	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs635356	chr9:84531984-84531985	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs515355	chr9:84531990-84531991	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs535630906	chr9:84531995-84531996	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs572292213	chr9:84532002-84532003	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs515305	chr9:84532010-84532011	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs558427780	chr9:84532027-84532028	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs576617766	chr9:84532095-84532096	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs370988657	chr9:84532096-84532097	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs556025796	chr9:84532099-84532100	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs370722761	chr9:84532113-84532114	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs573794072	chr9:84532117-84532118	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs139482027	chr9:84532128-84532129	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs559615812	chr9:84532131-84532132	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs544235115	chr9:84532132-84532133	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs551427336	chr9:84532144-84532145	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs563608636	chr9:84532145-84532146	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs530671473	chr9:84532161-84532162	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs200046676	chr9:84532162-84532163	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs568081715	chr9:84532165-84532166	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs368765774	chr9:84532171-84532172	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs201038991	chr9:84532177-84532178	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs513556	chr9:84532199-84532200	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs370587558	chr9:84532202-84532203	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs539651438	chr9:84532206-84532207	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs184997714	chr9:84532210-84532211	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs188680624	chr9:84532214-84532215	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs200195928	chr9:84532223-84532224	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs537310215	chr9:84532258-84532259	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs149690440	chr9:84532265-84532266	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs573656225	chr9:84532292-84532293	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs181421082	chr9:84532311-84532312	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs184134421	chr9:84532345-84532346	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs371854871	chr9:84532360-84532361	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs559782718	chr9:84532368-84532369	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs563312113	chr9:84532383-84532384	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs530849947	chr9:84532430-84532431	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs188414135	chr9:84532438-84532439	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs369710394	chr9:84532469-84532470	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs147799231	chr9:84532472-84532473	Inactive region	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: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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