Variant report

Variant	nsv831675
Chromosome Location	chr9:105013834-105184661
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:184)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:29)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:184 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr9:105157648-105157824	K562	blood:	n/a	n/a
2	CEBPB	chr9:105045700-105045900	A549	lung:	n/a	n/a
3	CEBPB	chr9:105015369-105015524	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr9:105116836-105117075	A549	lung:	n/a	chr9:105117017-105117030 chr9:105117019-105117028 chr9:105117019-105117028 chr9:105117019-105117028 chr9:105117019-105117028 chr9:105117019-105117030 chr9:105116943-105116954
5	CEBPB	chr9:105045628-105045943	HepG2	liver:	n/a	n/a
6	CEBPB	chr9:105123166-105123481	HepG2	liver:	n/a	chr9:105123302-105123313
7	CEBPB	chr9:105053288-105053488	HepG2	liver:	n/a	chr9:105053392-105053403
8	CEBPB	chr9:105116776-105117104	HepG2	liver:	n/a	chr9:105117017-105117030 chr9:105117019-105117028 chr9:105117019-105117028 chr9:105117019-105117028 chr9:105117019-105117028 chr9:105117019-105117030 chr9:105116943-105116954
9	CEBPB	chr9:105159432-105159672	HepG2	liver:	n/a	n/a
10	CEBPB	chr9:105053338-105053531	A549	lung:	n/a	chr9:105053392-105053403
11	CTCF	chr9:105015420-105015570	Caco-2	colon:	n/a	n/a
12	CTCF	chr9:105029673-105029679	GM10248	blood:	n/a	n/a
13	CTCF	chr9:105015460-105015610	HEK293	kidney:	n/a	chr9:105015565-105015573
14	CTCF	chr9:105015420-105015729	H1-hESC	embryonic stem cell:	n/a	chr9:105015565-105015573
15	CTCF	chr9:105015517-105015635	MCF-7	breast:	n/a	chr9:105015565-105015573
16	CTCF	chr9:105017180-105017330	GM12866	blood:	n/a	n/a
17	CTCF	chr9:105015408-105015699	H1-hESC	embryonic stem cell:	n/a	chr9:105015565-105015573
18	CTCF	chr9:105118166-105118279	GM10266	blood:	n/a	n/a
19	CTCF	chr9:105071620-105071770	HEK293	kidney:	n/a	n/a
20	CTCF	chr9:105074979-105075026	ProgFib	skin:	n/a	n/a
21	CTCF	chr9:105015506-105015634	MCF-7	breast:	n/a	chr9:105015565-105015573
22	CTCF	chr9:105071620-105071770	WERI-Rb-1	eye:	n/a	n/a
23	CTCF	chr9:105019456-105019525	GM13976	blood:	n/a	n/a
24	CTCF	chr9:105090926-105090959	Lung_OC	lung:	n/a	n/a
25	CTCF	chr9:105015560-105015710	WERI-Rb-1	eye:	n/a	chr9:105015565-105015573
26	CTCF	chr9:105015460-105015610	MCF-7	breast:	n/a	chr9:105015565-105015573
27	CTCF	chr9:105118420-105118570	GM12875	blood:	n/a	n/a
28	CTCF	chr9:105015540-105015690	WERI-Rb-1	eye:	n/a	chr9:105015565-105015573
29	CTCF	chr9:105134263-105134293	Gliobla	brain:	n/a	n/a
30	CTCF	chr9:105039793-105039858	Kidney_OC	kidney:	n/a	n/a
31	CTCF	chr9:105018830-105018903	GM10266	blood:	n/a	n/a
32	CTCF	chr9:105068383-105068442	GM20000	blood:	n/a	n/a
33	CTCF	chr9:105065960-105066110	GM12869	blood:	n/a	n/a
34	E2F4	chr9:105126610-105126887	MCF10A-Er-Src	breast:	n/a	n/a
35	E2F4	chr9:105036415-105036556	MCF10A-Er-Src	breast:	n/a	n/a
36	E2F4	chr9:105176420-105176669	MCF10A-Er-Src	breast:	n/a	n/a
37	E2F4	chr9:105056777-105056954	MCF10A-Er-Src	breast:	n/a	n/a
38	E2F4	chr9:105041290-105041457	MCF10A-Er-Src	breast:	n/a	n/a
39	E2F4	chr9:105047302-105047493	MCF10A-Er-Src	breast:	n/a	n/a
40	E2F4	chr9:105018969-105019169	MCF10A-Er-Src	breast:	n/a	n/a
41	E2F4	chr9:105120475-105120705	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F4	chr9:105046506-105046792	MCF10A-Er-Src	breast:	n/a	n/a
43	E2F4	chr9:105025079-105025217	MCF10A-Er-Src	breast:	n/a	n/a
44	EP300	chr9:105118272-105118630	T-47D	breast:	n/a	n/a
45	EP300	chr9:105026378-105026917	GM12878	blood:	n/a	chr9:105026435-105026449
46	EP300	chr9:105093487-105093883	MCF-7	breast:	n/a	n/a
47	ESR1	chr9:105115237-105115532	ECC-1	luminal epithelium:	n/a	n/a
48	ESR1	chr9:105115297-105115524	T-47D	breast:	n/a	n/a
49	ESR1	chr9:105115194-105115511	ECC-1	luminal epithelium:	n/a	n/a
50	FOS	chr9:105017646-105017952	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr9:105142545..105144051-chr9:105153392..105154963,2	MCF-7	breast:
2	chr1:106538363..106538863-chr9:105123307..105123875,2	MCF-7	breast:
3	chr9:105142545..105144051-chr9:105153392..105154963,2	MCF-7	breast:

(count:29 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRIN3A-3	chr9:105127094-105127137	NONHSAT133756
2	lnc-GRIN3A-3	chr9:105122117-105122289	NONHSAT133756
3	lnc-GRIN3A-3	chr9:105078134-105078251	ucscGeneNc_uc004bbt_2
4	lnc-GRIN3A-3	chr9:105122117-105122289	ucscGeneNc_uc004bbt_2
5	lnc-GRIN3A-3	chr9:105066714-105066751	NONHSAT133764
6	lnc-GRIN3A-3	chr9:105126760-105126881	NONHSAT133764
7	lnc-GRIN3A-3	chr9:105078134-105078251	NONHSAT133764
8	lnc-C9orf107-1	chr9:105053028-105053194	XLOC_007495
9	lnc-C9orf107-6	chr9:105022537-105022636	NONHSAT133760
10	lnc-GRIN3A-3	chr9:105066627-105066753	ucscGeneNc_uc004bbt_2
11	lnc-GRIN3A-3	chr9:105079433-105079602	NONHSAT133764
12	lnc-GRIN3A-3	chr9:105117245-105117384	ucscGeneNc_uc004bbt_2
13	lnc-GRIN3A-3	chr9:105117245-105117384	NONHSAT133756
14	lnc-C9orf107-5	chr9:105045829-105045892	NONHSAT133761
15	lnc-GRIN3A-3	chr9:105066627-105066753	NONHSAT133756
16	lnc-GRIN3A-4	chr9:105166983-105167167	NONHSAT133765
17	lnc-C9orf107-1	chr9:105052402-105052947	XLOC_007495
18	lnc-C9orf107-6	chr9:105022063-105022447	FPKM1_group_33627_transcript_2
19	lnc-GRIN3A-4	chr9:105164055-105164287	NONHSAT133765
20	lnc-GRIN3A-3	chr9:105078134-105078251	NONHSAT133756
21	lnc-GRIN3A-3	chr9:105029817-105029914	ucscGeneNc_uc004bbt_2
22	lnc-GRIN3A-3	chr9:105079433-105079602	NONHSAT133756
23	lnc-C9orf107-6	chr9:105022537-105022537	FPKM1_group_33627_transcript_2
24	lnc-GRIN3A-3	chr9:105117245-105117384	NONHSAT133764
25	lnc-C9orf107-5	chr9:105055136-105055273	NONHSAT133761
26	lnc-GRIN3A-3	chr9:105127094-105127133	ucscGeneNc_uc004bbt_2
27	lnc-C9orf107-6	chr9:105022063-105022447	NONHSAT133760
28	lnc-GRIN3A-3	chr9:105029817-105029914	NONHSAT133756
29	lnc-GRIN3A-3	chr9:105079433-105079602	ucscGeneNc_uc004bbt_2

No data

Variant related genes	Relation type
ENSG00000222117	TF binding region
RNU6-329P	TF binding region

Extended variants
information (count: 1105 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1105 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547679802	chr9:105015344-105015345	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs115090611	chr9:105015375-105015376	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs34871481	chr9:105015383-105015384	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs565690081	chr9:105015393-105015394	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs191029633	chr9:105015395-105015396	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs80128629	chr9:105015433-105015434	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs1923984	chr9:105015436-105015437	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs530690067	chr9:105015442-105015443	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs144669034	chr9:105015477-105015478	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs56216744	chr9:105015496-105015497	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs374622256	chr9:105015509-105015510	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs556026213	chr9:105015512-105015513	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs35386030	chr9:105015540-105015541	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs183251699	chr9:105015556-105015557	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs565997198	chr9:105015588-105015589	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs528709992	chr9:105015589-105015590	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs548769894	chr9:105015593-105015594	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs146601183	chr9:105015627-105015628	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs75009876	chr9:105015644-105015645	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs377429267	chr9:105015658-105015659	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs369064118	chr9:105015674-105015675	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs536775632	chr9:105015677-105015678	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs554938149	chr9:105015678-105015679	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs188081673	chr9:105015687-105015688	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs10820104	chr9:105015712-105015713	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs73661203	chr9:105015718-105015719	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs139355390	chr9:105015722-105015723	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs572570262	chr9:105015735-105015736	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs541645643	chr9:105015747-105015748	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs555122716	chr9:105015762-105015763	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs537599618	chr9:105016492-105016493	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs578091296	chr9:105016494-105016495	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs558045177	chr9:105016499-105016500	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs1535626	chr9:105016500-105016501	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs7865978	chr9:105016505-105016506	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs372294317	chr9:105016509-105016510	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs559766574	chr9:105016520-105016521	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs573413607	chr9:105016526-105016527	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs569655471	chr9:105016570-105016571	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs190202135	chr9:105016571-105016572	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs531143740	chr9:105016582-105016583	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs1535627	chr9:105016617-105016618	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs531003805	chr9:105016624-105016625	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs559476323	chr9:105017207-105017208	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs56059629	chr9:105017256-105017257	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs578186023	chr9:105017290-105017291	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs145336252	chr9:105017659-105017660	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs34540839	chr9:105017700-105017701	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs5899484	chr9:105017701-105017702	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs529469630	chr9:105017711-105017712	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Neuroblastoma	20406844	CNVD
Schizophrenia	23813976	CNVD
Basal cell lymphoma	21115979	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:105024600-105024800	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr9:105024600-105026200	Enhancers	Fetal Kidney	kidney
3	chr9:105026200-105026800	Weak transcription	Fetal Kidney	kidney
4	chr9:105026600-105027200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr9:105026800-105027000	Enhancers	Fetal Kidney	kidney
6	chr9:105032000-105032600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr9:105032600-105036000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr9:105036000-105036200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr9:105036200-105036600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr9:105036200-105037000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr9:105036600-105037000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr9:105042400-105043000	Enhancers	Fetal Kidney	kidney
13	chr9:105043000-105043600	Weak transcription	Fetal Kidney	kidney
14	chr9:105043600-105043800	Enhancers	Fetal Kidney	kidney
15	chr9:105070400-105070600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr9:105071000-105072600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr9:105115000-105115400	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr9:105122800-105124000	Enhancers	Liver	Liver
19	chr9:105124000-105124800	Weak transcription	Liver	Liver
20	chr9:105124800-105125400	Enhancers	Liver	Liver
21	chr9:105161800-105163000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr9:105162200-105163000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr9:105163000-105166800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr9:105166800-105167000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr9:105167000-105168000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr9:105167600-105168000	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr9:105167600-105168600	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr9:105167800-105168800	Enhancers	Fetal Heart	heart
29	chr9:105168000-105168400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr9:105179000-105179800	ZNF genes & repeats	Adipose Nuclei	Adipose
31	chr9:105179400-105179800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:105179400-105180000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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