Variant report

Variant	esv1820579
Chromosome Location	chr9:84518394-84556369
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:47)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:47 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:84527237-84527267	HepG2	liver:	n/a	n/a
2	BATF	chr9:84532243-84532605	GM12878	blood:	n/a	chr9:84532461-84532472
3	CEBPB	chr9:84529493-84529693	HepG2	liver:	n/a	chr9:84529585-84529596
4	CEBPB	chr9:84530997-84531232	IMR90	lung:	n/a	n/a
5	CEBPB	chr9:84529518-84529680	IMR90	lung:	n/a	chr9:84529585-84529596
6	CEBPB	chr9:84521545-84522088	IMR90	lung:	n/a	n/a
7	CTCF	chr9:84554429-84554466	LNCaP	prostate:	n/a	n/a
8	CTCF	chr9:84540843-84540886	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr9:84529698-84529751	GM10266	blood:	n/a	n/a
10	CTCF	chr9:84550703-84550791	LNCaP	prostate:	n/a	n/a
11	CTCF	chr9:84533150-84533206	GM13976	blood:	n/a	n/a
12	CTCF	chr9:84520333-84520350	Pancreas_OC	pancreas:	n/a	n/a
13	CTCF	chr9:84535739-84535829	Spleen_OC	spleen:	n/a	n/a
14	CTCF	chr9:84548421-84548448	Spleen_OC	spleen:	n/a	n/a
15	CTCF	chr9:84536967-84537045	GM13976	blood:	n/a	n/a
16	CTCF	chr9:84529710-84529755	Kidney_OC	kidney:	n/a	n/a
17	E2F4	chr9:84521581-84522185	MCF10A-Er-Src	breast:	n/a	n/a
18	EP300	chr9:84521633-84521921	SK-N-SH_RA	brain:	n/a	n/a
19	EP300	chr9:84521551-84521858	SK-N-SH_RA	brain:	n/a	n/a
20	FOS	chr9:84521269-84522184	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr9:84521550-84522185	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr9:84521269-84522186	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr9:84521305-84522089	MCF10A-Er-Src	breast:	n/a	n/a
24	FOXA1	chr9:84527010-84527350	HepG2	liver:	n/a	n/a
25	IRF4	chr9:84532288-84532608	GM12878	blood:	n/a	n/a
26	JUND	chr9:84523911-84524047	HepG2	liver:	n/a	chr9:84523965-84523976
27	MAZ	chr9:84527311-84527502	HepG2	liver:	n/a	n/a
28	MYC	chr9:84521249-84522185	MCF10A-Er-Src	breast:	n/a	n/a
29	MYC	chr9:84521362-84522185	MCF10A-Er-Src	breast:	n/a	n/a
30	NFE2	chr9:84522410-84522415	GM12878	blood:	n/a	n/a
31	POLR2A	chr9:84521465-84521800	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr9:84544596-84544658	A549	lung:	n/a	n/a
33	POLR2A	chr9:84521250-84522227	MCF10A-Er-Src	breast:	n/a	n/a
34	SPI1	chr9:84548411-84548915	GM12891	blood:	n/a	n/a
35	SPI1	chr9:84533357-84533816	GM12878	blood:	n/a	n/a
36	SPI1	chr9:84548508-84548846	GM12878	blood:	n/a	n/a
37	SPI1	chr9:84533324-84533867	GM12891	blood:	n/a	n/a
38	SPI1	chr9:84548279-84549034	GM12878	blood:	n/a	n/a
39	SPI1	chr9:84533397-84533774	GM12878	blood:	n/a	n/a
40	SPI1	chr9:84548396-84548939	GM12891	blood:	n/a	n/a
41	SPI1	chr9:84533385-84533843	GM12891	blood:	n/a	n/a
42	STAT3	chr9:84521460-84521899	MCF10A-Er-Src	breast:	n/a	n/a
43	STAT3	chr9:84521763-84521946	MCF10A-Er-Src	breast:	n/a	n/a
44	STAT3	chr9:84526732-84526775	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT3	chr9:84521468-84521874	MCF10A-Er-Src	breast:	n/a	n/a
46	STAT3	chr9:84523835-84523927	MCF10A-Er-Src	breast:	n/a	n/a
47	STAT3	chr9:84521313-84522185	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:84532813-84532863	SK-N-MC	brain:	n/a
2	chr9:84532813-84532863	Hela-S3	cervix:	n/a
3	chr9:84528281-84528331	ProgFib	skin:	n/a
4	chr9:84528281-84528331	AoSMC	blood vessel:	n/a
5	chr9:84528281-84528331	NB4	blood:	n/a
6	chr9:84528281-84528331	H1-hESC	embryonic stem cell:	embryo
7	chr9:84532813-84532863	HCT-116	colon:	n/a
8	chr9:84527546-84527596	ovcar-3	ovarian:	n/a
9	chr9:84532813-84532863	HEK293	kidney:	embryo
10	chr9:84528281-84528331	Jurkat	blood:	n/a
11	chr9:84532813-84532863	H1-hESC	embryonic stem cell:	embryo
12	chr9:84527546-84527596	MCF-7	breast:	n/a
13	chr9:84528281-84528331	AG04450	lung:	fetal
14	chr9:84527546-84527596	NHBE	bronchial:	n/a
15	chr9:84528281-84528331	GM06990	blood:	n/a
16	chr9:84528281-84528331	HUVEC	blood vessel:	n/a
17	chr9:84528281-84528331	HAEpiC	amniotic membrane:	n/a
18	chr9:84527546-84527596	CMK	blood:	n/a
19	chr9:84527546-84527596	BJ	skin:	n/a
20	chr9:84532813-84532863	GM19239	blood:	n/a
21	chr9:84532813-84532863	HAEpiC	amniotic membrane:	n/a
22	chr9:84528281-84528331	AG04449	skin:	fetal
23	chr9:84532813-84532863	PANC-1	pancreas:	n/a
24	chr9:84528281-84528331	IMR90	lung:	fetal
25	chr9:84528281-84528331	PANC-1	pancreas:	n/a
26	chr9:84528281-84528331	PFSK-1	brain:	n/a
27	chr9:84528281-84528331	T-47D	breast:	n/a
28	chr9:84528281-84528331	AG09309	skin:	n/a
29	chr9:84532813-84532863	HPAEpiC	pulmonary alveolar:	n/a
30	chr9:84532813-84532863	CMK	blood:	n/a
31	chr9:84532813-84532863	AG09319	gingival:	n/a
32	chr9:84527546-84527596	SK-N-SH	brain:	n/a
33	chr9:84527546-84527596	SKMC	muscle:	n/a
34	chr9:84532813-84532863	PFSK-1	brain:	n/a
35	chr9:84532813-84532863	MCF-7	breast:	n/a
36	chr9:84527546-84527596	GM12891	blood:	n/a
37	chr9:84528281-84528331	HEEpiC	esophagus:	n/a
38	chr9:84528281-84528331	SKMC	muscle:	n/a
39	chr9:84528281-84528331	HPAEpiC	pulmonary alveolar:	n/a
40	chr9:84532813-84532863	BJ	skin:	n/a
41	chr9:84528281-84528331	NT2-D1	testis:	n/a
42	chr9:84527546-84527596	LNCaP	prostate:	n/a
43	chr9:84527546-84527596	GM19239	blood:	n/a
44	chr9:84527546-84527596	HCF	heart:	n/a
45	chr9:84528281-84528331	LNCaP	prostate:	n/a
46	chr9:84532813-84532863	HCM	heart:	n/a
47	chr9:84532813-84532863	GM06990	blood:	n/a
48	chr9:84527546-84527596	HPAEpiC	pulmonary alveolar:	n/a
49	chr9:84532813-84532863	Caco-2	colon:	n/a
50	chr9:84532813-84532863	AG04450	lung:	fetal

No data

(count:5 , 50 per page) page: 1

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

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: 496 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:496 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557855852	chr9:84518425-84518426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142655181	chr9:84518437-84518438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559994287	chr9:84518481-84518482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150278205	chr9:84518493-84518494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554796764	chr9:84518494-84518495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188844053	chr9:84518512-84518513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs56281129	chr9:84518561-84518562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs577383741	chr9:84518564-84518565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs58931877	chr9:84518570-84518571	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs552133979	chr9:84518575-84518576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551058483	chr9:84518585-84518586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557196683	chr9:84518605-84518606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144884686	chr9:84518624-84518625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548945569	chr9:84518655-84518656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571655881	chr9:84518681-84518682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567141621	chr9:84518692-84518693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372078681	chr9:84518695-84518696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534187830	chr9:84518740-84518741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193214363	chr9:84518742-84518743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184555058	chr9:84518744-84518745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs58563483	chr9:84518801-84518802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192131156	chr9:84518805-84518806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138290766	chr9:84518816-84518817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375401649	chr9:84518821-84518822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576374794	chr9:84518865-84518866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544961655	chr9:84518872-84518873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555825827	chr9:84519010-84519011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537493089	chr9:84519014-84519015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557397801	chr9:84519022-84519023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116028249	chr9:84519055-84519056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565042792	chr9:84519099-84519100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553822306	chr9:84519106-84519107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572308090	chr9:84519117-84519118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75695405	chr9:84519140-84519141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374957449	chr9:84519150-84519151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12351812	chr9:84519154-84519155	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs552865942	chr9:84519156-84519157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532533225	chr9:84519177-84519178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544743066	chr9:84519191-84519192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573023895	chr9:84519207-84519208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373394528	chr9:84519217-84519218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530355965	chr9:84519220-84519221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376832894	chr9:84519225-84519226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561301641	chr9:84519356-84519357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548807312	chr9:84519375-84519376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184305333	chr9:84519528-84519529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79751831	chr9:84519530-84519531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189723161	chr9:84519549-84519550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570464382	chr9:84519620-84519621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537426562	chr9:84519635-84519636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:84515600-84519600	Weak transcription	Fetal Lung	lung
2	chr9:84517800-84521200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:84518000-84521400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:84519600-84520000	Enhancers	Fetal Lung	lung
5	chr9:84521200-84522200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:84521400-84521800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr9:84521400-84521800	Enhancers	NH-A	brain
8	chr9:84521400-84521800	Enhancers	Osteobl	bone
9	chr9:84521400-84522000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr9:84521400-84522400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:84526400-84526600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:84526600-84527000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:84526600-84527800	Enhancers	Liver	Liver
14	chr9:84530400-84531000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:84530400-84531200	Enhancers	HSMMtube	muscle

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