Variant report

Variant	esv1849238
Chromosome Location	chr9:84530808-84569326
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 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	chr9:84530997-84531232	IMR90	lung:	n/a	n/a
3	CTCF	chr9:84548421-84548448	Spleen_OC	spleen:	n/a	n/a
4	CTCF	chr9:84550703-84550791	LNCaP	prostate:	n/a	n/a
5	CTCF	chr9:84536967-84537045	GM13976	blood:	n/a	n/a
6	CTCF	chr9:84562108-84562179	Spleen_OC	spleen:	n/a	n/a
7	CTCF	chr9:84554429-84554466	LNCaP	prostate:	n/a	n/a
8	CTCF	chr9:84568180-84568330	HFF-Myc	foreskin:	n/a	n/a
9	CTCF	chr9:84540843-84540886	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr9:84563336-84563355	LNCaP	prostate:	n/a	n/a
11	CTCF	chr9:84535739-84535829	Spleen_OC	spleen:	n/a	n/a
12	CTCF	chr9:84563982-84564047	LNCaP	prostate:	n/a	n/a
13	CTCF	chr9:84556513-84556592	LNCaP	prostate:	n/a	n/a
14	CTCF	chr9:84533150-84533206	GM13976	blood:	n/a	n/a
15	E2F4	chr9:84567723-84567729	MCF10A-Er-Src	breast:	n/a	n/a
16	GATA3	chr9:84567505-84567682	SH-SY5Y	brain:	n/a	n/a
17	IRF4	chr9:84532288-84532608	GM12878	blood:	n/a	n/a
18	MAFK	chr9:84568002-84568099	HepG2	liver:	n/a	chr9:84568073-84568088
19	POLR2A	chr9:84544596-84544658	A549	lung:	n/a	n/a
20	POLR2A	chr9:84569079-84569243	GM12878	blood:	n/a	n/a
21	SPI1	chr9:84563503-84563995	GM12891	blood:	n/a	n/a
22	SPI1	chr9:84533397-84533774	GM12878	blood:	n/a	n/a
23	SPI1	chr9:84548508-84548846	GM12878	blood:	n/a	n/a
24	SPI1	chr9:84548396-84548939	GM12891	blood:	n/a	n/a
25	SPI1	chr9:84533324-84533867	GM12891	blood:	n/a	n/a
26	SPI1	chr9:84563488-84564031	GM12891	blood:	n/a	n/a
27	SPI1	chr9:84533357-84533816	GM12878	blood:	n/a	n/a
28	SPI1	chr9:84533385-84533843	GM12891	blood:	n/a	n/a
29	SPI1	chr9:84548279-84549034	GM12878	blood:	n/a	n/a
30	SPI1	chr9:84563486-84563981	GM12878	blood:	n/a	n/a
31	SPI1	chr9:84563600-84563938	GM12878	blood:	n/a	n/a
32	SPI1	chr9:84548411-84548915	GM12891	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:84532813-84532863	SAEC	small airway:	n/a
2	chr9:84532813-84532863	HPAEpiC	pulmonary alveolar:	n/a
3	chr9:84532813-84532863	HAEpiC	amniotic membrane:	n/a
4	chr9:84532813-84532863	ECC-1	luminal epithelium:	n/a
5	chr9:84532813-84532863	NB4	blood:	n/a
6	chr9:84532813-84532863	LNCaP	prostate:	n/a
7	chr9:84532813-84532863	AG09309	skin:	n/a
8	chr9:84532813-84532863	PrEC	prostate:	n/a
9	chr9:84532813-84532863	ProgFib	skin:	n/a
10	chr9:84532813-84532863	HUVEC	blood vessel:	n/a
11	chr9:84532813-84532863	SK-N-MC	brain:	n/a
12	chr9:84532813-84532863	HEEpiC	esophagus:	n/a
13	chr9:84532813-84532863	GM19239	blood:	n/a
14	chr9:84532813-84532863	HNPCEpiC	eye:	n/a
15	chr9:84532813-84532863	RPTEC	kidney:	n/a
16	chr9:84532813-84532863	HRCEpiC	kidney:	n/a
17	chr9:84532813-84532863	BJ	skin:	n/a
18	chr9:84532813-84532863	AG04449	skin:	fetal
19	chr9:84532813-84532863	GM12878	blood:	n/a
20	chr9:84532813-84532863	MCF10A-Er-Src	breast:	n/a
21	chr9:84532813-84532863	T-47D	breast:	n/a
22	chr9:84532813-84532863	MCF-7	breast:	n/a
23	chr9:84532813-84532863	GM06990	blood:	n/a
24	chr9:84532813-84532863	GM12891	blood:	n/a
25	chr9:84532813-84532863	AG04450	lung:	fetal
26	chr9:84532813-84532863	SKMC	muscle:	n/a
27	chr9:84532813-84532863	HMEC	breast:	n/a
28	chr9:84532813-84532863	HIPEpiC	eye:	n/a
29	chr9:84532813-84532863	ovcar-3	ovarian:	n/a
30	chr9:84532813-84532863	IMR90	lung:	fetal
31	chr9:84532813-84532863	Hepatocyte	liver:	n/a
32	chr9:84532813-84532863	SK-N-SH	brain:	n/a
33	chr9:84532813-84532863	PFSK-1	brain:	n/a
34	chr9:84532813-84532863	K562	blood:	n/a
35	chr9:84532813-84532863	PANC-1	pancreas:	n/a
36	chr9:84532813-84532863	U87	brain:	n/a
37	chr9:84532813-84532863	HEK293	kidney:	embryo
38	chr9:84532813-84532863	HCM	heart:	n/a
39	chr9:84532813-84532863	NHDF-neo	bronchial:	n/a
40	chr9:84532813-84532863	HCPEpiC	choroid plexus:	n/a
41	chr9:84532813-84532863	NT2-D1	testis:	n/a
42	chr9:84532813-84532863	Jurkat	blood:	n/a
43	chr9:84532813-84532863	HCT-116	colon:	n/a
44	chr9:84532813-84532863	HepG2	liver:	n/a
45	chr9:84532813-84532863	NH-A	brain:	n/a
46	chr9:84532813-84532863	AoSMC	blood vessel:	n/a
47	chr9:84532813-84532863	NHBE	bronchial:	n/a
48	chr9:84532813-84532863	Hela-S3	cervix:	n/a
49	chr9:84532813-84532863	HCF	heart:	n/a
50	chr9:84532813-84532863	Caco-2	colon:	n/a

No data

(count:4 , 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-FAM75B-1	chr9:84561353-84561401	ENSG00000267559.1
4	lnc-FAM75B-1	chr9:84545141-84546309	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: 223 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:223 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200646054	chr9:84530844-84530845	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs182214789	chr9:84530854-84530855	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs147642134	chr9:84530855-84530856	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs76172189	chr9:84530856-84530857	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs559082963	chr9:84530863-84530864	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs117202352	chr9:84530910-84530911	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs544482097	chr9:84530927-84530928	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs2182742	chr9:84530955-84530956	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs563070291	chr9:84530979-84530980	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs530342915	chr9:84531004-84531005	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs142320788	chr9:84531010-84531011	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs559745668	chr9:84531043-84531044	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs527288487	chr9:84531062-84531063	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs540070614	chr9:84531069-84531070	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs146387432	chr9:84531091-84531092	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs570222889	chr9:84531150-84531151	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs200456940	chr9:84531179-84531180	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs549733735	chr9:84531193-84531194	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs568215921	chr9:84531195-84531196	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs535420364	chr9:84531198-84531199	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs377687087	chr9:84531201-84531202	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs554103133	chr9:84531247-84531248	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs549276430	chr9:84531251-84531252	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs569017696	chr9:84531257-84531258	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs186823698	chr9:84531290-84531291	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs534192575	chr9:84531294-84531295	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs558943887	chr9:84531353-84531354	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs577288260	chr9:84531375-84531376	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs115919238	chr9:84531379-84531380	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs544658322	chr9:84531393-84531394	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs556514551	chr9:84531414-84531415	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs1999662	chr9:84531447-84531448	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs542163492	chr9:84531462-84531463	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs138774243	chr9:84531466-84531467	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs527940439	chr9:84531484-84531485	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs112844174	chr9:84531511-84531512	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs149370879	chr9:84531513-84531514	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs564083601	chr9:84531522-84531523	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs531324075	chr9:84531535-84531536	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs111518013	chr9:84531584-84531585	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs533284686	chr9:84531588-84531589	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs191251628	chr9:84531589-84531590	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs185832076	chr9:84531600-84531601	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs547571195	chr9:84531602-84531603	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs565981821	chr9:84531605-84531606	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs539715617	chr9:84531636-84531637	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs188699464	chr9:84531667-84531668	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs12000019	chr9:84531668-84531669	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs12376383	chr9:84531675-84531676	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs142961960	chr9:84531701-84531702	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:2 , 50 per page) page: 1

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

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