Variant report

Variant	nsv1024093
Chromosome Location	chr9:11937429-12227417
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	chr9:12195470-12195708	H1-hESC	embryonic stem cell:	n/a	chr9:12195611-12195622
5	CEBPB	chr9:12195456-12195797	HepG2	liver:	n/a	chr9:12195611-12195622
6	CEBPB	chr9:11968320-11968531	HepG2	liver:	n/a	chr9:11968445-11968456 chr9:11968447-11968456 chr9:11968446-11968457 chr9:11968445-11968458
7	CEBPB	chr9:12195488-12195695	K562	blood:	n/a	chr9:12195611-12195622
8	CEBPB	chr9:11968269-11968582	A549	lung:	n/a	chr9:11968445-11968456 chr9:11968447-11968456 chr9:11968446-11968457 chr9:11968445-11968458
9	CEBPB	chr9:11946375-11946610	HepG2	liver:	n/a	chr9:11946481-11946492
10	CEBPB	chr9:12129071-12129335	HepG2	liver:	n/a	n/a
11	CEBPB	chr9:11946400-11946627	IMR90	lung:	n/a	chr9:11946481-11946492
12	CEBPB	chr9:11959566-11959766	K562	blood:	n/a	chr9:11959657-11959668
13	CEBPB	chr9:12180768-12180970	IMR90	lung:	n/a	n/a
14	CEBPB	chr9:12195471-12195788	IMR90	lung:	n/a	chr9:12195611-12195622
15	CEBPB	chr9:12193945-12194181	A549	lung:	n/a	chr9:12194071-12194082 chr9:12194071-12194084
16	CEBPB	chr9:12208833-12209071	HepG2	liver:	n/a	chr9:12208898-12208909 chr9:12208899-12208908 chr9:12208897-12208910
17	CEBPB	chr9:11959508-11959839	HepG2	liver:	n/a	chr9:11959657-11959668
18	CEBPB	chr9:12119993-12120079	A549	lung:	n/a	chr9:12120059-12120068 chr9:12120057-12120070 chr9:12120057-12120068
19	CEBPB	chr9:11959593-11959818	IMR90	lung:	n/a	chr9:11959657-11959668
20	CEBPB	chr9:12012267-12012412	A549	lung:	n/a	n/a
21	CTCF	chr9:12076187-12076204	GM10248	blood:	n/a	n/a
22	CTCF	chr9:12045540-12045690	HPF	lung:	n/a	n/a
23	CTCF	chr9:12078782-12078864	LNCaP	prostate:	n/a	n/a
24	CTCF	chr9:12180880-12181030	GM12878	blood:	n/a	n/a
25	CTCF	chr9:12180880-12181030	HEK293	kidney:	n/a	n/a
26	CTCF	chr9:12219074-12219108	GM10248	blood:	n/a	n/a
27	CTCF	chr9:12195520-12195670	HMF	breast:	n/a	n/a
28	CTCF	chr9:12195600-12195750	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr9:12092315-12092389	MCF-7	breast:	n/a	n/a
30	CTCF	chr9:12210667-12210803	GM10248	blood:	n/a	n/a
31	CTCF	chr9:12041600-12041634	GM20000	blood:	n/a	n/a
32	CTCF	chr9:12148949-12149036	Fibrobl	skin:	n/a	n/a
33	CTCF	chr9:12195560-12195710	HMF	breast:	n/a	n/a
34	CTCF	chr9:11997160-11997310	HEK293	kidney:	n/a	n/a
35	CTCF	chr9:12100160-12100310	NB4	blood:	n/a	n/a
36	CTCF	chr9:12210677-12210803	Kidney_OC	kidney:	n/a	n/a
37	CTCF	chr9:12092280-12092430	WERI-Rb-1	eye:	n/a	n/a
38	CTCF	chr9:11952660-11952810	AG09319	gingival:	n/a	n/a
39	CTCF	chr9:12195560-12195710	AoAF	blood vessel:	n/a	n/a
40	CTCF	chr9:12115897-12115954	GM10248	blood:	n/a	n/a
41	CTCF	chr9:12142395-12142451	LNCaP	prostate:	n/a	n/a
42	CTCF	chr9:12076206-12076321	GM10266	blood:	n/a	n/a
43	CTCF	chr9:12215488-12215552	GM13977	blood:	n/a	n/a
44	CTCF	chr9:12224065-12224152	GM13976	blood:	n/a	n/a
45	CTCF	chr9:12041004-12041085	GM20000	blood:	n/a	n/a
46	CTCF	chr9:12219290-12219372	GM13976	blood:	n/a	n/a
47	CTCF	chr9:12101680-12101830	GM12869	blood:	n/a	n/a
48	CTCF	chr9:12055107-12055140	GM13976	blood:	n/a	n/a
49	CTCF	chr9:12195600-12195750	NHEK	skin:	n/a	n/a
50	CTCF	chr9:11944302-11944336	GM13977	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:12094328..12096426-chr9:12096756..12098736,2	K562	blood:
2	chr9:12182493..12185046-chr9:12186407..12189303,2	K562	blood:
3	chr18:21570976..21573123-chr9:12145530..12147030,2	MCF-7	breast:
4	chr9:12094328..12096426-chr9:12096756..12098736,2	K562	blood:
5	chr9:12182493..12185046-chr9:12186407..12189303,2	K562	blood:

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

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

Extended variants
information (count: 3730 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:3730 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7039047	chr9:11946421-11946422	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75743667	chr9:11946447-11946448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531454774	chr9:11946448-11946449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs56752334	chr9:11946462-11946463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200516986	chr9:11946467-11946468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs398068462	chr9:11946471-11946472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550794092	chr9:11946479-11946480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143612178	chr9:11946524-11946525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12683795	chr9:11946560-11946561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75358085	chr9:11946563-11946564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182843934	chr9:11946600-11946601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147185313	chr9:11946649-11946650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558890546	chr9:11946673-11946674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568383984	chr9:11946686-11946687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116138627	chr9:11946695-11946696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139981401	chr9:11946733-11946734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76110496	chr9:11946760-11946761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145406186	chr9:11946779-11946780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12377001	chr9:11946789-11946790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138194134	chr9:11946790-11946791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559458644	chr9:11946795-11946796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs202113226	chr9:11946799-11946800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs386732711	chr9:11946800-11946801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192879315	chr9:11946801-11946802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572587876	chr9:11946872-11946873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559168469	chr9:11946878-11946879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569479696	chr9:11946904-11946905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550859422	chr9:11946908-11946909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145215783	chr9:11946933-11946934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148715996	chr9:11946939-11946940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376190682	chr9:11946942-11946943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546711426	chr9:11946949-11946950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182549097	chr9:11946952-11946953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539107915	chr9:11946984-11946985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538492270	chr9:11946997-11946998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs72708218	chr9:11946998-11946999	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs368503472	chr9:11947003-11947004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75804311	chr9:11947005-11947006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371503473	chr9:11947008-11947009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575124515	chr9:11947042-11947043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557253338	chr9:11947081-11947082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs151321455	chr9:11947090-11947091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140697749	chr9:11947099-11947100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145822741	chr9:11947130-11947131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146593886	chr9:11947213-11947214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576046508	chr9:11947255-11947256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545075883	chr9:11947276-11947277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140917440	chr9:11947326-11947327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530478214	chr9:11947357-11947358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544512247	chr9:11947359-11947360	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:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11946400-11947400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr9:11947000-11947800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr9:11966600-11967200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:11966800-11967200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:11966800-11967200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:11966800-11967400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:11968800-11969000	Enhancers	Pancreas	Pancrea
8	chr9:11972800-11973200	Enhancers	Placenta Amnion	Placenta Amnion
9	chr9:11975000-11975200	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr9:11975600-11976200	Enhancers	Fetal Brain Male	brain
11	chr9:11976000-11976200	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr9:11977400-11977600	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr9:11991400-11994000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr9:11991800-11992200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:11991800-11992200	Enhancers	Fetal Heart	heart
16	chr9:11991800-11993400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr9:11992400-11993200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr9:11993000-11993800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr9:11995800-11996600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr9:11995800-11998200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:11996600-11996800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr9:12017400-12019600	Weak transcription	Fetal Heart	heart
23	chr9:12019600-12021400	Enhancers	Fetal Heart	heart
24	chr9:12046400-12046800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr9:12046800-12048000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr9:12048000-12048400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr9:12054200-12054600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr9:12057600-12059000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr9:12058400-12060400	Enhancers	Fetal Intestine Large	intestine
30	chr9:12059000-12060000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr9:12060000-12065800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr9:12060200-12060400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr9:12060400-12061400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr9:12060400-12065000	Weak transcription	Fetal Intestine Large	intestine
35	chr9:12061400-12061800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr9:12061400-12062000	Enhancers	Placenta Amnion	Placenta Amnion
37	chr9:12061600-12061800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr9:12061800-12064200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr9:12064200-12065600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr9:12065000-12065800	Enhancers	Fetal Intestine Large	intestine
41	chr9:12076400-12076600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
42	chr9:12076400-12076800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
43	chr9:12076600-12076800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
44	chr9:12091200-12096400	Enhancers	Placenta Amnion	Placenta Amnion
45	chr9:12091600-12092600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr9:12091800-12092200	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr9:12092600-12096200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr9:12096200-12096400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr9:12096400-12101600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr9:12101600-12102200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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