Variant report

Variant	nsv1031356
Chromosome Location	chr9:11992592-12205632
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:259)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:259 , 50 per page) page: 1 2 3 4 5 6

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	chr9:12195470-12195708	H1-hESC	embryonic stem cell:	n/a	chr9:12195611-12195622
5	CEBPB	chr9:12119993-12120079	A549	lung:	n/a	chr9:12120059-12120068 chr9:12120057-12120070 chr9:12120057-12120068
6	CEBPB	chr9:12195456-12195797	HepG2	liver:	n/a	chr9:12195611-12195622
7	CEBPB	chr9:12195471-12195788	IMR90	lung:	n/a	chr9:12195611-12195622
8	CEBPB	chr9:12193945-12194181	A549	lung:	n/a	chr9:12194071-12194082 chr9:12194071-12194084
9	CEBPB	chr9:12012267-12012412	A549	lung:	n/a	n/a
10	CEBPB	chr9:12195488-12195695	K562	blood:	n/a	chr9:12195611-12195622
11	CEBPB	chr9:12129071-12129335	HepG2	liver:	n/a	n/a
12	CEBPB	chr9:12180768-12180970	IMR90	lung:	n/a	n/a
13	CTCF	chr9:12100160-12100310	NB4	blood:	n/a	n/a
14	CTCF	chr9:12092280-12092430	WERI-Rb-1	eye:	n/a	n/a
15	CTCF	chr9:11997160-11997310	HEK293	kidney:	n/a	n/a
16	CTCF	chr9:12092304-12092357	MCF-7	breast:	n/a	n/a
17	CTCF	chr9:12053853-12053871	GM20000	blood:	n/a	n/a
18	CTCF	chr9:12076187-12076204	GM10248	blood:	n/a	n/a
19	CTCF	chr9:12195560-12195710	HEK293	kidney:	n/a	n/a
20	CTCF	chr9:12101680-12101830	GM12869	blood:	n/a	n/a
21	CTCF	chr9:12180880-12181030	GM12878	blood:	n/a	n/a
22	CTCF	chr9:12195560-12195710	AoAF	blood vessel:	n/a	n/a
23	CTCF	chr9:12041600-12041634	GM20000	blood:	n/a	n/a
24	CTCF	chr9:12041004-12041085	GM20000	blood:	n/a	n/a
25	CTCF	chr9:12045540-12045690	HPF	lung:	n/a	n/a
26	CTCF	chr9:12115897-12115954	GM10248	blood:	n/a	n/a
27	CTCF	chr9:12148949-12149036	Fibrobl	skin:	n/a	n/a
28	CTCF	chr9:12195600-12195750	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr9:12055107-12055140	GM13976	blood:	n/a	n/a
30	CTCF	chr9:12195520-12195670	HMF	breast:	n/a	n/a
31	CTCF	chr9:12195600-12195750	NHEK	skin:	n/a	n/a
32	CTCF	chr9:12092315-12092389	MCF-7	breast:	n/a	n/a
33	CTCF	chr9:12078782-12078864	LNCaP	prostate:	n/a	n/a
34	CTCF	chr9:12142395-12142451	LNCaP	prostate:	n/a	n/a
35	CTCF	chr9:12076206-12076321	GM10266	blood:	n/a	n/a
36	CTCF	chr9:12195560-12195710	HMF	breast:	n/a	n/a
37	CTCF	chr9:12180880-12181030	HEK293	kidney:	n/a	n/a
38	CUX1	chr9:12116986-12116993	GM12878	blood:	n/a	n/a
39	E2F4	chr9:12080930-12081057	MCF10A-Er-Src	breast:	n/a	n/a
40	E2F4	chr9:12155208-12155412	MCF10A-Er-Src	breast:	n/a	n/a
41	E2F4	chr9:12088959-12089045	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F4	chr9:12058656-12058919	MCF10A-Er-Src	breast:	n/a	n/a
43	E2F4	chr9:12129041-12129241	MCF10A-Er-Src	breast:	n/a	n/a
44	E2F4	chr9:12058071-12058393	MCF10A-Er-Src	breast:	n/a	n/a
45	E2F4	chr9:12145578-12145647	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F4	chr9:12060947-12061014	MCF10A-Er-Src	breast:	n/a	n/a
47	E2F4	chr9:12150860-12151087	MCF10A-Er-Src	breast:	n/a	n/a
48	E2F4	chr9:12185683-12185754	MCF10A-Er-Src	breast:	n/a	n/a
49	EBF1	chr9:11993043-11993281	GM12878	blood:	n/a	n/a
50	EBF1	chr9:12044633-12044723	GM12878	blood:	n/a	n/a

No data

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

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	chr9:12182493..12185046-chr9:12186407..12189303,2	K562	blood:
4	chr18:21570976..21573123-chr9:12145530..12147030,2	MCF-7	breast:
5	chr9:12182493..12185046-chr9:12186407..12189303,2	K562	blood:

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

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

No data

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

Extended variants
information (count: 3195 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:3195 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565946311	chr9:11992596-11992597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185670684	chr9:11992615-11992616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554152173	chr9:11992629-11992630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577195478	chr9:11992639-11992640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546050349	chr9:11992696-11992697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73646841	chr9:11992702-11992703	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs576153324	chr9:11992742-11992743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557535689	chr9:11992760-11992761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115034092	chr9:11992807-11992808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577621198	chr9:11992821-11992822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191779768	chr9:11992824-11992825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535378126	chr9:11992838-11992839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146782482	chr9:11992945-11992946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148348721	chr9:11992949-11992950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564466234	chr9:11993005-11993006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183584508	chr9:11993028-11993029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141229798	chr9:11993042-11993043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570161070	chr9:11993067-11993068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563085726	chr9:11993091-11993092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529444980	chr9:11993095-11993096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549259799	chr9:11993100-11993101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576229484	chr9:11993108-11993109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187364242	chr9:11993110-11993111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562008342	chr9:11993159-11993160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560271683	chr9:11993203-11993204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535055678	chr9:11993205-11993206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558162403	chr9:11993208-11993209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576010963	chr9:11993214-11993215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs527995301	chr9:11993225-11993226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556384211	chr9:11993235-11993236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576203994	chr9:11993249-11993250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541996811	chr9:11993284-11993285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs117647158	chr9:11993295-11993296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77485098	chr9:11993325-11993326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112867842	chr9:11993394-11993395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563752366	chr9:11993405-11993406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150318631	chr9:11993427-11993428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543765620	chr9:11993445-11993446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564008178	chr9:11993446-11993447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529504905	chr9:11993447-11993448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs386414453	chr9:11993450-11993451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs386414454	chr9:11993452-11993453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs386414455	chr9:11993454-11993455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371807690	chr9:11993456-11993457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549008135	chr9:11993459-11993460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559915773	chr9:11993460-11993461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375426594	chr9:11993477-11993478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564330853	chr9:11993496-11993497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551865488	chr9:11993510-11993511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533403644	chr9:11993513-11993514	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:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11991400-11994000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr9:11991800-11993400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:11992400-11993200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr9:11993000-11993800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr9:11995800-11996600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:11995800-11998200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:11996600-11996800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr9:12017400-12019600	Weak transcription	Fetal Heart	heart
9	chr9:12019600-12021400	Enhancers	Fetal Heart	heart
10	chr9:12046400-12046800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr9:12046800-12048000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr9:12048000-12048400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr9:12054200-12054600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr9:12057600-12059000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr9:12058400-12060400	Enhancers	Fetal Intestine Large	intestine
16	chr9:12059000-12060000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr9:12060000-12065800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr9:12060200-12060400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr9:12060400-12061400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr9:12060400-12065000	Weak transcription	Fetal Intestine Large	intestine
21	chr9:12061400-12061800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr9:12061400-12062000	Enhancers	Placenta Amnion	Placenta Amnion
23	chr9:12061600-12061800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr9:12061800-12064200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr9:12064200-12065600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr9:12065000-12065800	Enhancers	Fetal Intestine Large	intestine
27	chr9:12076400-12076600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
28	chr9:12076400-12076800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:12076600-12076800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
30	chr9:12091200-12096400	Enhancers	Placenta Amnion	Placenta Amnion
31	chr9:12091600-12092600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:12091800-12092200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr9:12092600-12096200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr9:12096200-12096400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr9:12096400-12101600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr9:12101600-12102200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr9:12101600-12102400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr9:12101800-12102800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr9:12102400-12104200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr9:12104200-12104400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr9:12135800-12137400	Enhancers	Fetal Heart	heart
42	chr9:12137600-12138400	Enhancers	Placenta Amnion	Placenta Amnion
43	chr9:12137800-12138200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr9:12139800-12142600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
45	chr9:12142400-12144000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr9:12155400-12156200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr9:12156200-12161400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr9:12161400-12167200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr9:12161600-12164800	Enhancers	Brain Germinal Matrix	brain
50	chr9:12162200-12162400	Active TSS	Brain Anterior Caudate	brain

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