Variant report

Variant	nsv968712
Chromosome Location	chr9:84667794-84682249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr9:84681328-84681719	IMR90	lung:	n/a	chr9:84681361-84681372
2	CEBPB	chr9:84681295-84681508	A549	lung:	n/a	chr9:84681361-84681372
3	CEBPB	chr9:84681325-84681716	HepG2	liver:	n/a	chr9:84681361-84681372
4	CTCF	chr9:84676909-84677019	Fibrobl	skin:	n/a	n/a
5	CTCF	chr9:84676760-84676910	HCT-116	colon:	n/a	n/a
6	CTCF	chr9:84676901-84677024	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr9:84676887-84677024	MCF-7	breast:	n/a	n/a
8	CTCF	chr9:84676880-84677030	HepG2	liver:	n/a	n/a
9	CTCF	chr9:84676886-84677039	HepG2	liver:	n/a	n/a
10	CTCF	chr9:84676887-84677023	MCF-7	breast:	n/a	n/a
11	CTCF	chr9:84676895-84677028	GM19238	blood:	n/a	n/a
12	CTCF	chr9:84676886-84677029	MCF-7	breast:	n/a	n/a
13	CTCF	chr9:84676880-84677030	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr9:84676876-84677036	MCF-7	breast:	n/a	n/a
15	CTCF	chr9:84676898-84677023	A549	lung:	n/a	n/a
16	CTCF	chr9:84676871-84677027	K562	blood:	n/a	n/a
17	CTCF	chr9:84676882-84677027	GM19240	blood:	n/a	n/a
18	CTCF	chr9:84676936-84677010	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr9:84676905-84677018	ProgFib	skin:	n/a	n/a
20	CTCF	chr9:84676906-84677013	Gliobla	brain:	n/a	n/a
21	CTCF	chr9:84676885-84677028	NHEK	skin:	n/a	n/a
22	CTCF	chr9:84676780-84676930	HFF-Myc	foreskin:	n/a	n/a
23	CTCF	chr9:84676680-84676830	RPTEC	kidney:	n/a	n/a
24	CTCF	chr9:84676900-84677018	MCF-7	breast:	n/a	n/a
25	CTCF	chr9:84676931-84676999	GM12878	blood:	n/a	n/a
26	CTCF	chr9:84676760-84676910	BE2_C	brain:	n/a	n/a
27	CTCF	chr9:84676780-84676930	MCF-7	breast:	n/a	n/a
28	CTCF	chr9:84676909-84677017	GM12892	blood:	n/a	n/a
29	CTCF	chr9:84670982-84671008	LNCaP	prostate:	n/a	n/a
30	CTCF	chr9:84676905-84677018	GM12891	blood:	n/a	n/a
31	CTCF	chr9:84671014-84671054	LNCaP	prostate:	n/a	n/a
32	CTCF	chr9:84676980-84677130	HBMEC	blood vessel:	n/a	n/a
33	GATA3	chr9:84680676-84681146	MCF-7	breast:	n/a	n/a
34	NFYB	chr9:84668726-84669119	K562	blood:	n/a	n/a
35	NFYB	chr9:84668721-84668921	GM12878	blood:	n/a	n/a
36	POLR2A	chr9:84678433-84678623	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr9:84676352-84676367	Gliobla	brain:	n/a	n/a
38	RAD21	chr9:84676773-84677026	SK-N-SH_RA	brain:	n/a	n/a
39	SPI1	chr9:84676366-84676640	K562	blood:	n/a	chr9:84676505-84676518 chr9:84676506-84676519 chr9:84676508-84676517
40	TCF7L2	chr9:84680711-84680977	MCF-7	breast:	n/a	chr9:84680829-84680843

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM75B-2	chr9:84676525-84676585	NONHSAT132703
2	lnc-FAM75B-2	chr9:84675876-84676269	NONHSAT132703
3	lnc-FAM75B-2	chr9:84676908-84677001	NONHSAT132703
4	lnc-FAM75B-2	chr9:84677151-84677208	NONHSAT132701
5	lnc-FAM75B-2	chr9:84678409-84678597	NONHSAT132701
6	lnc-FAM75B-2	chr9:84676525-84676585	NONHSAT132701
7	lnc-FAM75B-2	chr9:84672562-84676269	NONHSAT132701

No data

Variant related genes	Relation type
SPATA31B1	TF binding region

Extended variants
information (count: 332 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:332 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529537037	chr9:84669430-84669431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs547720043	chr9:84669434-84669435	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs150644124	chr9:84669463-84669464	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs540037484	chr9:84669470-84669471	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs13301909	chr9:84669547-84669548	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs118088189	chr9:84669561-84669562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs536790244	chr9:84669571-84669572	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs372429783	chr9:84669581-84669582	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs139847595	chr9:84669594-84669595	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs573713550	chr9:84669600-84669601	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557859843	chr9:84669606-84669607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534891921	chr9:84669745-84669746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553324559	chr9:84669776-84669777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11139484	chr9:84669805-84669806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185400344	chr9:84669840-84669841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149831730	chr9:84669863-84669864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577702959	chr9:84669867-84669868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576478948	chr9:84669921-84669922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543596436	chr9:84669924-84669925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561734961	chr9:84669943-84669944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529279823	chr9:84669994-84669995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191085191	chr9:84669998-84669999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559628027	chr9:84669999-84670000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533316303	chr9:84670023-84670024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551944983	chr9:84670164-84670165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553967930	chr9:84670203-84670204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144403221	chr9:84670256-84670257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372954801	chr9:84670258-84670259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570191858	chr9:84670268-84670269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34133005	chr9:84670317-84670318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201646406	chr9:84670336-84670337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574104678	chr9:84670341-84670342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376975414	chr9:84670441-84670442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549127584	chr9:84670464-84670465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567241232	chr9:84670465-84670466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534616763	chr9:84670481-84670482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs180689146	chr9:84670508-84670509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543316227	chr9:84670562-84670563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145830466	chr9:84670580-84670581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187431908	chr9:84670627-84670628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557110943	chr9:84670649-84670650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575385157	chr9:84670651-84670652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543491320	chr9:84670688-84670689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145702329	chr9:84670715-84670716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563032401	chr9:84670732-84670733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369005152	chr9:84670772-84670773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573655355	chr9:84670785-84670786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111354066	chr9:84670798-84670799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1831062	chr9:84670811-84670812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1831063	chr9:84670819-84670820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Gastrointestinal stromal cancer	20877625	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:84669400-84669600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:84669600-84676200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:84672400-84673600	Enhancers	Primary B cells from cord blood	blood
4	chr9:84672600-84673400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr9:84672800-84673600	Enhancers	Primary B cells from peripheral blood	blood
6	chr9:84672800-84673600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr9:84672800-84674000	Enhancers	Fetal Thymus	thymus
8	chr9:84673400-84677000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr9:84676800-84677200	Enhancers	Fetal Muscle Trunk	muscle
10	chr9:84677000-84677400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr9:84677000-84677400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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