Variant report

Variant	nsv508555
Chromosome Location	chr9:84507699-84580028
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:127)
CpG islands
(count:183)
Chromatin interactive
region (count:5)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:127 , 50 per page) page: 1 2 3

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	chr9:84579449-84579744	HepG2	liver:	n/a	chr9:84579615-84579626
4	CEBPB	chr9:84579228-84579766	IMR90	lung:	n/a	chr9:84579615-84579626
5	CEBPB	chr9:84521545-84522088	IMR90	lung:	n/a	n/a
6	CEBPB	chr9:84529518-84529680	IMR90	lung:	n/a	chr9:84529585-84529596
7	CEBPB	chr9:84579303-84579751	H1-hESC	embryonic stem cell:	n/a	chr9:84579615-84579626
8	CEBPB	chr9:84529493-84529693	HepG2	liver:	n/a	chr9:84529585-84529596
9	CEBPB	chr9:84530997-84531232	IMR90	lung:	n/a	n/a
10	CTCF	chr9:84550703-84550791	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	chr9:84508971-84509014	ProgFib	skin:	n/a	n/a
14	CTCF	chr9:84509203-84509211	GM10248	blood:	n/a	n/a
15	CTCF	chr9:84508984-84509051	Fibrobl	skin:	n/a	n/a
16	CTCF	chr9:84568180-84568330	HFF-Myc	foreskin:	n/a	n/a
17	CTCF	chr9:84529710-84529755	Kidney_OC	kidney:	n/a	n/a
18	CTCF	chr9:84508900-84509050	AG09319	gingival:	n/a	n/a
19	CTCF	chr9:84548421-84548448	Spleen_OC	spleen:	n/a	n/a
20	CTCF	chr9:84556513-84556592	LNCaP	prostate:	n/a	n/a
21	CTCF	chr9:84520333-84520350	Pancreas_OC	pancreas:	n/a	n/a
22	CTCF	chr9:84529698-84529751	GM10266	blood:	n/a	n/a
23	CTCF	chr9:84535739-84535829	Spleen_OC	spleen:	n/a	n/a
24	CTCF	chr9:84563336-84563355	LNCaP	prostate:	n/a	n/a
25	CTCF	chr9:84562108-84562179	Spleen_OC	spleen:	n/a	n/a
26	CTCF	chr9:84554429-84554466	LNCaP	prostate:	n/a	n/a
27	CTCF	chr9:84533150-84533206	GM13976	blood:	n/a	n/a
28	CTCF	chr9:84540843-84540886	Kidney_OC	kidney:	n/a	n/a
29	CTCF	chr9:84510020-84510170	HRPEpiC	eye:	n/a	n/a
30	E2F4	chr9:84521581-84522185	MCF10A-Er-Src	breast:	n/a	n/a
31	E2F4	chr9:84517548-84517984	MCF10A-Er-Src	breast:	n/a	n/a
32	E2F4	chr9:84576117-84576275	MCF10A-Er-Src	breast:	n/a	n/a
33	E2F4	chr9:84567723-84567729	MCF10A-Er-Src	breast:	n/a	n/a
34	EBF1	chr9:84579769-84579994	GM12878	blood:	n/a	n/a
35	EBF1	chr9:84579795-84580076	GM12878	blood:	n/a	n/a
36	EBF1	chr9:84579665-84580303	GM12878	blood:	n/a	n/a
37	EP300	chr9:84510861-84511535	SK-N-SH	brain:	n/a	n/a
38	EP300	chr9:84521633-84521921	SK-N-SH_RA	brain:	n/a	n/a
39	EP300	chr9:84510968-84511604	SK-N-SH_RA	brain:	n/a	n/a
40	EP300	chr9:84521551-84521858	SK-N-SH_RA	brain:	n/a	n/a
41	EP300	chr9:84510949-84511604	SK-N-SH_RA	brain:	n/a	n/a
42	FOS	chr9:84521550-84522185	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr9:84517170-84517912	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr9:84521269-84522184	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr9:84509849-84510153	MCF10A-Er-Src	breast:	n/a	chr9:84510006-84510015 chr9:84510008-84510015
46	FOS	chr9:84579769-84579778	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr9:84509829-84510164	MCF10A-Er-Src	breast:	n/a	chr9:84510006-84510015 chr9:84510008-84510015
48	FOS	chr9:84509866-84510136	MCF10A-Er-Src	breast:	n/a	chr9:84510006-84510015 chr9:84510008-84510015
49	FOS	chr9:84517245-84517893	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr9:84517212-84517858	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	SKMC	muscle:	n/a
2	chr9:84528281-84528331	NH-A	brain:	n/a
3	chr9:84528281-84528331	HNPCEpiC	eye:	n/a
4	chr9:84528281-84528331	HL-60	blood:	n/a
5	chr9:84527546-84527596	HNPCEpiC	eye:	n/a
6	chr9:84528281-84528331	HCF	heart:	n/a
7	chr9:84528281-84528331	AG10803	skin:	n/a
8	chr9:84527546-84527596	PANC-1	pancreas:	n/a
9	chr9:84532813-84532863	NB4	blood:	n/a
10	chr9:84528281-84528331	HEK293	kidney:	embryo
11	chr9:84532813-84532863	Hela-S3	cervix:	n/a
12	chr9:84527546-84527596	IMR90	lung:	fetal
13	chr9:84527546-84527596	GM19239	blood:	n/a
14	chr9:84527546-84527596	HepG2	liver:	n/a
15	chr9:84527546-84527596	HRPEpiC	eye:	n/a
16	chr9:84532813-84532863	U87	brain:	n/a
17	chr9:84527546-84527596	RPTEC	kidney:	n/a
18	chr9:84528281-84528331	MCF-7	breast:	n/a
19	chr9:84527546-84527596	HAEpiC	amniotic membrane:	n/a
20	chr9:84532813-84532863	RPTEC	kidney:	n/a
21	chr9:84528281-84528331	ProgFib	skin:	n/a
22	chr9:84528281-84528331	HIPEpiC	eye:	n/a
23	chr9:84532813-84532863	Caco-2	colon:	n/a
24	chr9:84527546-84527596	GM12891	blood:	n/a
25	chr9:84532813-84532863	SK-N-SH_RA	brain:	n/a
26	chr9:84532813-84532863	HCF	heart:	n/a
27	chr9:84527546-84527596	SAEC	small airway:	n/a
28	chr9:84527546-84527596	NT2-D1	testis:	n/a
29	chr9:84527546-84527596	HIPEpiC	eye:	n/a
30	chr9:84528281-84528331	AG09309	skin:	n/a
31	chr9:84532813-84532863	AoSMC	blood vessel:	n/a
32	chr9:84528281-84528331	IMR90	lung:	fetal
33	chr9:84528281-84528331	AG04449	skin:	fetal
34	chr9:84532813-84532863	HCM	heart:	n/a
35	chr9:84527546-84527596	SK-N-SH_RA	brain:	n/a
36	chr9:84528281-84528331	SK-N-SH_RA	brain:	n/a
37	chr9:84527546-84527596	GM12878	blood:	n/a
38	chr9:84532813-84532863	MCF-7	breast:	n/a
39	chr9:84528281-84528331	AoSMC	blood vessel:	n/a
40	chr9:84527546-84527596	HPAEpiC	pulmonary alveolar:	n/a
41	chr9:84532813-84532863	ovcar-3	ovarian:	n/a
42	chr9:84528281-84528331	HUVEC	blood vessel:	n/a
43	chr9:84532813-84532863	CMK	blood:	n/a
44	chr9:84528281-84528331	ECC-1	luminal epithelium:	n/a
45	chr9:84532813-84532863	HNPCEpiC	eye:	n/a
46	chr9:84532813-84532863	SAEC	small airway:	n/a
47	chr9:84532813-84532863	Hepatocyte	liver:	n/a
48	chr9:84532813-84532863	HMEC	breast:	n/a
49	chr9:84527546-84527596	HCT-116	colon:	n/a
50	chr9:84532813-84532863	IMR90	lung:	fetal

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

No.	Distal block	Cell Line	Cell type
1	chr9:84511424..84513572-chr9:84514305..84516417,2	MCF-7	breast:
2	chr15:56997213..56998082-chr9:84571851..84572510,2	Hela-S3	cervix:
3	chr9:84511424..84513572-chr9:84514305..84516417,2	MCF-7	breast:
4	chr9:84579954..84582797-chr9:84592231..84595041,2	MCF-7	breast:
5	chr9:84503918..84506226-chr9:84512695..84515365,2	MCF-7	breast:

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

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

No data

Variant related genes	Relation type
SPATA31D5P	TF binding region
SPATA31D4	TF binding region
SPATA31D2P	TF binding region
SPATA31D3	TF binding region
ENSG00000230846	TF binding region
SPATA31D5P	CpG island
SPATA31D4	CpG island
SPATA31D2P	CpG island
SPATA31D3	CpG island
ENSG00000230846	CpG island

Extended variants
information (count: 801 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:801 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552738565	chr9:84507790-84507791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558137192	chr9:84507813-84507814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576331640	chr9:84507832-84507833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34226228	chr9:84507893-84507894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs202019874	chr9:84507935-84507936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368702290	chr9:84508058-84508059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150578394	chr9:84508079-84508080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188193914	chr9:84508128-84508129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529475784	chr9:84508167-84508168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536126156	chr9:84508173-84508174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12348676	chr9:84508177-84508178	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs559658674	chr9:84508178-84508179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139632378	chr9:84508199-84508200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541019474	chr9:84508249-84508250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551738574	chr9:84508258-84508259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs193154401	chr9:84508361-84508362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575707120	chr9:84508362-84508363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530949002	chr9:84508363-84508364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530390725	chr9:84508375-84508376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539890291	chr9:84508387-84508388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549094599	chr9:84508389-84508390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567347070	chr9:84508449-84508450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183199821	chr9:84508486-84508487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546827529	chr9:84508491-84508492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571420253	chr9:84508501-84508502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77081359	chr9:84508511-84508512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556943260	chr9:84508519-84508520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551140634	chr9:84508549-84508550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537030034	chr9:84508609-84508610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371069237	chr9:84508610-84508611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555878754	chr9:84508644-84508645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146780258	chr9:84508645-84508646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541083618	chr9:84508799-84508800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559521011	chr9:84508801-84508802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577786487	chr9:84508827-84508828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545697825	chr9:84508844-84508845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186915250	chr9:84508894-84508895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530554842	chr9:84508948-84508949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542293555	chr9:84508967-84508968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548698759	chr9:84509051-84509052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560827947	chr9:84509054-84509055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191355273	chr9:84509067-84509068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376650637	chr9:84509093-84509094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546691321	chr9:84509145-84509146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562416083	chr9:84509177-84509178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576710174	chr9:84509218-84509219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571483621	chr9:84509284-84509285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538442108	chr9:84509318-84509319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550882810	chr9:84509372-84509373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs368794453	chr9:84509388-84509389	Enhancers	n/a	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:84507400-84508400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr9:84508400-84508600	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr9:84508600-84509400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr9:84513600-84513800	Enhancers	Aorta	Aorta
5	chr9:84513600-84514400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr9:84513800-84514000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:84514000-84515000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr9:84514600-84515600	Enhancers	Fetal Lung	lung
9	chr9:84515000-84515800	Enhancers	H9 Cell Line	embryonic stem cell
10	chr9:84515000-84516000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr9:84515400-84515800	Enhancers	Aorta	Aorta
12	chr9:84515400-84516000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr9:84515600-84519600	Weak transcription	Fetal Lung	lung
14	chr9:84516000-84517400	Enhancers	Stomach Smooth Muscle	stomach
15	chr9:84516600-84518000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:84517000-84517800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:84517200-84518000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr9:84517400-84517800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr9:84517400-84517800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr9:84517400-84518000	Enhancers	NHEK	skin
21	chr9:84517600-84518000	Enhancers	HMEC	breast
22	chr9:84517600-84518000	Enhancers	NHDF-Ad	bronchial
23	chr9:84517800-84521200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:84518000-84521400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:84519600-84520000	Enhancers	Fetal Lung	lung
26	chr9:84521200-84522200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr9:84521400-84521800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr9:84521400-84521800	Enhancers	NH-A	brain
29	chr9:84521400-84521800	Enhancers	Osteobl	bone
30	chr9:84521400-84522000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr9:84521400-84522400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr9:84526400-84526600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:84526600-84527000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr9:84526600-84527800	Enhancers	Liver	Liver
35	chr9:84530400-84531000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr9:84530400-84531200	Enhancers	HSMMtube	muscle
37	chr9:84570200-84571000	ZNF genes & repeats	Brain Hippocampus Middle	brain
38	chr9:84579000-84580000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr9:84579400-84579800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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