Variant report

Variant	nsv613476
Chromosome Location	chr9:11887764-12178984
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr9:12170667-12170713	H1-hESC	embryonic stem cell:	n/a	n/a
2	BRCA1	chr9:12011400-12011402	GM12878	blood:	n/a	n/a
3	CBX3	chr9:12054451-12054644	K562	blood:	n/a	n/a
4	CEBPB	chr9:11959566-11959766	K562	blood:	n/a	chr9:11959657-11959668
5	CEBPB	chr9:11934067-11934195	HepG2	liver:	n/a	chr9:11934105-11934116 chr9:11934106-11934117 chr9:11934105-11934118
6	CEBPB	chr9:12012267-12012412	A549	lung:	n/a	n/a
7	CEBPB	chr9:11959508-11959839	HepG2	liver:	n/a	chr9:11959657-11959668
8	CEBPB	chr9:11933995-11934266	ECC-1	luminal epithelium:	n/a	chr9:11934105-11934116 chr9:11934106-11934117 chr9:11934105-11934118
9	CEBPB	chr9:12119993-12120079	A549	lung:	n/a	chr9:12120059-12120068 chr9:12120057-12120070 chr9:12120057-12120068
10	CEBPB	chr9:12129071-12129335	HepG2	liver:	n/a	n/a
11	CEBPB	chr9:11959593-11959818	IMR90	lung:	n/a	chr9:11959657-11959668
12	CEBPB	chr9:11899316-11899547	A549	lung:	n/a	n/a
13	CEBPB	chr9:11933909-11934318	Hela-S3	cervix:	n/a	chr9:11934105-11934116 chr9:11934106-11934117 chr9:11934105-11934118
14	CEBPB	chr9:11968320-11968531	HepG2	liver:	n/a	chr9:11968445-11968456 chr9:11968447-11968456 chr9:11968446-11968457 chr9:11968445-11968458
15	CEBPB	chr9:11946400-11946627	IMR90	lung:	n/a	chr9:11946481-11946492
16	CEBPB	chr9:11946375-11946610	HepG2	liver:	n/a	chr9:11946481-11946492
17	CEBPB	chr9:11968269-11968582	A549	lung:	n/a	chr9:11968445-11968456 chr9:11968447-11968456 chr9:11968446-11968457 chr9:11968445-11968458
18	CEBPB	chr9:11933929-11934303	IMR90	lung:	n/a	chr9:11934105-11934116 chr9:11934106-11934117 chr9:11934105-11934118
19	CTCF	chr9:12148949-12149036	Fibrobl	skin:	n/a	n/a
20	CTCF	chr9:11893413-11893434	Fibrobl	skin:	n/a	n/a
21	CTCF	chr9:12041600-12041634	GM20000	blood:	n/a	n/a
22	CTCF	chr9:11997160-11997310	HEK293	kidney:	n/a	n/a
23	CTCF	chr9:12100160-12100310	NB4	blood:	n/a	n/a
24	CTCF	chr9:12142395-12142451	LNCaP	prostate:	n/a	n/a
25	CTCF	chr9:12092315-12092389	MCF-7	breast:	n/a	n/a
26	CTCF	chr9:12045540-12045690	HPF	lung:	n/a	n/a
27	CTCF	chr9:12092304-12092357	MCF-7	breast:	n/a	n/a
28	CTCF	chr9:12101680-12101830	GM12869	blood:	n/a	n/a
29	CTCF	chr9:12055107-12055140	GM13976	blood:	n/a	n/a
30	CTCF	chr9:12053853-12053871	GM20000	blood:	n/a	n/a
31	CTCF	chr9:12041004-12041085	GM20000	blood:	n/a	n/a
32	CTCF	chr9:12078782-12078864	LNCaP	prostate:	n/a	n/a
33	CTCF	chr9:12076187-12076204	GM10248	blood:	n/a	n/a
34	CTCF	chr9:12076206-12076321	GM10266	blood:	n/a	n/a
35	CTCF	chr9:11944302-11944336	GM13977	blood:	n/a	n/a
36	CTCF	chr9:12115897-12115954	GM10248	blood:	n/a	n/a
37	CTCF	chr9:11906644-11906673	GM13976	blood:	n/a	n/a
38	CTCF	chr9:11952660-11952810	AG09319	gingival:	n/a	n/a
39	CTCF	chr9:12092280-12092430	WERI-Rb-1	eye:	n/a	n/a
40	CUX1	chr9:12116986-12116993	GM12878	blood:	n/a	n/a
41	E2F4	chr9:11963927-11964296	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F4	chr9:12150860-12151087	MCF10A-Er-Src	breast:	n/a	n/a
43	E2F4	chr9:12145578-12145647	MCF10A-Er-Src	breast:	n/a	n/a
44	E2F4	chr9:12088959-12089045	MCF10A-Er-Src	breast:	n/a	n/a
45	E2F4	chr9:11983262-11983556	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F4	chr9:12155208-12155412	MCF10A-Er-Src	breast:	n/a	n/a
47	E2F4	chr9:11955949-11956022	MCF10A-Er-Src	breast:	n/a	n/a
48	E2F4	chr9:12129041-12129241	MCF10A-Er-Src	breast:	n/a	n/a
49	E2F4	chr9:11931173-11931439	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F4	chr9:12058656-12058919	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:12094328..12096426-chr9:12096756..12098736,2	K562	blood:
2	chr9:12094328..12096426-chr9:12096756..12098736,2	K562	blood:
3	chr18:21570976..21573123-chr9:12145530..12147030,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MPDZ-2	chr9:12098660-12099015	XLOC_007648
2	lnc-MPDZ-9	chr9:12088660-12089015	NONHSAT130219
3	lnc-MPDZ-2	chr9:12159117-12159147	XLOC_007648
4	lnc-MPDZ-9	chr9:12149117-12149147	NONHSAT130219
5	lnc-MPDZ-9	chr9:12136273-12136401	NONHSAT130219
6	lnc-MPDZ-2	chr9:12139007-12139044	XLOC_007648
7	lnc-MPDZ-2	chr9:12116821-12116865	XLOC_007648
8	lnc-MPDZ-2	chr9:12098714-12099015	XLOC_007648
9	lnc-MPDZ-9	chr9:12106821-12106865	NONHSAT130219
10	lnc-MPDZ-2	chr9:12146273-12146401	XLOC_007648
11	lnc-MPDZ-2	chr9:12116821-12116865	XLOC_007648

Variant related genes	Relation type
ENSG00000224935	TF binding region
ENSG00000168234	chromatin interactions

Extended variants
information (count: 3880 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:3880 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111800869	chr9:11892608-11892609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371948029	chr9:11892617-11892618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150542827	chr9:11892629-11892630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571491182	chr9:11892680-11892681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537349098	chr9:11892732-11892733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139856078	chr9:11892768-11892769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs56369991	chr9:11892790-11892791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374781830	chr9:11892798-11892799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369411062	chr9:11892807-11892808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535958741	chr9:11892818-11892819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552624243	chr9:11892826-11892827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548772075	chr9:11892840-11892841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572508941	chr9:11892844-11892845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544565335	chr9:11892897-11892898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564890958	chr9:11892963-11892964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74475414	chr9:11892979-11892980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115444003	chr9:11893018-11893019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561359888	chr9:11893030-11893031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11532849	chr9:11893047-11893048	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs188675254	chr9:11893080-11893081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560528420	chr9:11893110-11893111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78385267	chr9:11893113-11893114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371871182	chr9:11893144-11893145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181108053	chr9:11893145-11893146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73396639	chr9:11893172-11893173	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs113195479	chr9:11893207-11893208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550817361	chr9:11893212-11893213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567147093	chr9:11893228-11893229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535997322	chr9:11893251-11893252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73396641	chr9:11893283-11893284	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs572642526	chr9:11893288-11893289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371855329	chr9:11893332-11893333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72708206	chr9:11893340-11893341	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs572165789	chr9:11893465-11893466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558300088	chr9:11893509-11893510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575163206	chr9:11893517-11893518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35065659	chr9:11893559-11893560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544596627	chr9:11893568-11893569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73396643	chr9:11893600-11893601	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs554300582	chr9:11893611-11893612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575093396	chr9:11893622-11893623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11506345	chr9:11893628-11893629	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs186239016	chr9:11893651-11893652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191938066	chr9:11893683-11893684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546261180	chr9:11893684-11893685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146188871	chr9:11893728-11893729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531703685	chr9:11893786-11893787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34821571	chr9:11893816-11893817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550604747	chr9:11893862-11893863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577536967	chr9:11893863-11893864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Cancer	20164920	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Type 2 diabetes	21526130	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Williams Syndrome	20824207	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11892600-11893200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr9:11892600-11893200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:11892800-11893600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:11892800-11894200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:11893000-11893400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:11893200-11894800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:11894600-11895000	Enhancers	K562	blood
8	chr9:11894800-11895400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr9:11901600-11911400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:11902200-11902800	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr9:11912400-11912600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:11914800-11915000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr9:11914800-11915600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr9:11914800-11916600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr9:11914800-11916600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr9:11915000-11915600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr9:11915000-11916000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr9:11915000-11916400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr9:11915000-11916400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr9:11915600-11915800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr9:11915600-11915800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr9:11915600-11915800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr9:11915600-11916000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr9:11915800-11916000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr9:11915800-11916000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr9:11916000-11916200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr9:11916000-11916200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr9:11916000-11916200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr9:11916200-11916400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr9:11916200-11916400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr9:11916200-11916400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr9:11931000-11931400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:11931200-11932000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr9:11931400-11933400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr9:11932000-11933400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr9:11933400-11934600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:11933400-11934600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr9:11933600-11934800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr9:11933800-11934600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr9:11934000-11934400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr9:11946400-11947400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr9:11947000-11947800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr9:11966600-11967200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:11966800-11967200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr9:11966800-11967200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr9:11966800-11967400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr9:11968800-11969000	Enhancers	Pancreas	Pancrea
48	chr9:11972800-11973200	Enhancers	Placenta Amnion	Placenta Amnion
49	chr9:11975000-11975200	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr9:11975600-11976200	Enhancers	Fetal Brain Male	brain

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