Variant report

Variant	nsv1029238
Chromosome Location	chr9:11760140-12196202
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	chr9:11968320-11968531	HepG2	liver:	n/a	chr9:11968445-11968456 chr9:11968447-11968456 chr9:11968446-11968457 chr9:11968445-11968458
5	CEBPB	chr9:12180768-12180970	IMR90	lung:	n/a	n/a
6	CEBPB	chr9:11959508-11959839	HepG2	liver:	n/a	chr9:11959657-11959668
7	CEBPB	chr9:11933909-11934318	Hela-S3	cervix:	n/a	chr9:11934105-11934116 chr9:11934106-11934117 chr9:11934105-11934118
8	CEBPB	chr9:12119993-12120079	A549	lung:	n/a	chr9:12120059-12120068 chr9:12120057-12120070 chr9:12120057-12120068
9	CEBPB	chr9:12195488-12195695	K562	blood:	n/a	chr9:12195611-12195622
10	CEBPB	chr9:12012267-12012412	A549	lung:	n/a	n/a
11	CEBPB	chr9:11959566-11959766	K562	blood:	n/a	chr9:11959657-11959668
12	CEBPB	chr9:12129071-12129335	HepG2	liver:	n/a	n/a
13	CEBPB	chr9:11779927-11780177	A549	lung:	n/a	n/a
14	CEBPB	chr9:11795605-11795828	HepG2	liver:	n/a	n/a
15	CEBPB	chr9:12195456-12195797	HepG2	liver:	n/a	chr9:12195611-12195622
16	CEBPB	chr9:11899316-11899547	A549	lung:	n/a	n/a
17	CEBPB	chr9:11933929-11934303	IMR90	lung:	n/a	chr9:11934105-11934116 chr9:11934106-11934117 chr9:11934105-11934118
18	CEBPB	chr9:11959593-11959818	IMR90	lung:	n/a	chr9:11959657-11959668
19	CEBPB	chr9:11784110-11784218	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr9:11968269-11968582	A549	lung:	n/a	chr9:11968445-11968456 chr9:11968447-11968456 chr9:11968446-11968457 chr9:11968445-11968458
21	CEBPB	chr9:11946375-11946610	HepG2	liver:	n/a	chr9:11946481-11946492
22	CEBPB	chr9:12193945-12194181	A549	lung:	n/a	chr9:12194071-12194082 chr9:12194071-12194084
23	CEBPB	chr9:11933995-11934266	ECC-1	luminal epithelium:	n/a	chr9:11934105-11934116 chr9:11934106-11934117 chr9:11934105-11934118
24	CEBPB	chr9:12195470-12195708	H1-hESC	embryonic stem cell:	n/a	chr9:12195611-12195622
25	CEBPB	chr9:12195471-12195788	IMR90	lung:	n/a	chr9:12195611-12195622
26	CEBPB	chr9:11934067-11934195	HepG2	liver:	n/a	chr9:11934105-11934116 chr9:11934106-11934117 chr9:11934105-11934118
27	CEBPB	chr9:11790686-11790886	HepG2	liver:	n/a	chr9:11790808-11790821 chr9:11790808-11790819
28	CEBPB	chr9:11946400-11946627	IMR90	lung:	n/a	chr9:11946481-11946492
29	CTCF	chr9:12115897-12115954	GM10248	blood:	n/a	n/a
30	CTCF	chr9:12148949-12149036	Fibrobl	skin:	n/a	n/a
31	CTCF	chr9:12053853-12053871	GM20000	blood:	n/a	n/a
32	CTCF	chr9:12092315-12092389	MCF-7	breast:	n/a	n/a
33	CTCF	chr9:12092304-12092357	MCF-7	breast:	n/a	n/a
34	CTCF	chr9:12092280-12092430	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr9:12195560-12195710	HEK293	kidney:	n/a	n/a
36	CTCF	chr9:12055107-12055140	GM13976	blood:	n/a	n/a
37	CTCF	chr9:11952660-11952810	AG09319	gingival:	n/a	n/a
38	CTCF	chr9:12180880-12181030	HEK293	kidney:	n/a	n/a
39	CTCF	chr9:12195560-12195710	AoAF	blood vessel:	n/a	n/a
40	CTCF	chr9:12195600-12195750	NHEK	skin:	n/a	n/a
41	CTCF	chr9:12195520-12195670	HMF	breast:	n/a	n/a
42	CTCF	chr9:12076206-12076321	GM10266	blood:	n/a	n/a
43	CTCF	chr9:12076187-12076204	GM10248	blood:	n/a	n/a
44	CTCF	chr9:12045540-12045690	HPF	lung:	n/a	n/a
45	CTCF	chr9:11906644-11906673	GM13976	blood:	n/a	n/a
46	CTCF	chr9:11869160-11869310	NB4	blood:	n/a	n/a
47	CTCF	chr9:11893413-11893434	Fibrobl	skin:	n/a	n/a
48	CTCF	chr9:12101680-12101830	GM12869	blood:	n/a	n/a
49	CTCF	chr9:11831669-11831738	GM20000	blood:	n/a	n/a
50	CTCF	chr9:12100160-12100310	NB4	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:12094328..12096426-chr9:12096756..12098736,2	K562	blood:
2	chr18:21570976..21573123-chr9:12145530..12147030,2	MCF-7	breast:
3	chr9:12182493..12185046-chr9:12186407..12189303,2	K562	blood:
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-2	chr9:12139007-12139044	XLOC_007648
2	lnc-MPDZ-9	chr9:12088660-12089015	NONHSAT130219
3	lnc-MPDZ-2	chr9:12116821-12116865	XLOC_007648
4	lnc-MPDZ-9	chr9:12136273-12136401	NONHSAT130219
5	lnc-MPDZ-9	chr9:12149117-12149147	NONHSAT130219
6	lnc-PTPRD-5	chr9:11826175-11826601	XLOC_007647
7	lnc-MPDZ-2	chr9:12146273-12146401	XLOC_007648
8	lnc-PTPRD-10	chr9:11824674-11824988	l_3733_chr9:11816028-11824988_testes
9	lnc-PTPRD-5	chr9:11834674-11834988	XLOC_007647
10	lnc-PTPRD-10	chr9:11819221-11819360	l_3733_chr9:11816028-11824988_testes
11	lnc-PTPRD-5	chr9:11829221-11829360	XLOC_007647
12	lnc-PTPRD-5	chr9:11834674-11834959	XLOC_007647
13	lnc-PTPRD-10	chr9:11816029-11816601	l_3733_chr9:11816028-11824988_testes
14	lnc-PTPRD-5	chr9:11829221-11829360	XLOC_007647
15	lnc-MPDZ-9	chr9:12106821-12106865	NONHSAT130219
16	lnc-PTPRD-5	chr9:11834674-11834959	XLOC_007647
17	lnc-MPDZ-2	chr9:12159117-12159147	XLOC_007648
18	lnc-MPDZ-2	chr9:12116821-12116865	XLOC_007648
19	lnc-PTPRD-5	chr9:11829210-11829360	XLOC_007647
20	lnc-MPDZ-2	chr9:12098714-12099015	XLOC_007648
21	lnc-MPDZ-2	chr9:12098660-12099015	XLOC_007648
22	lnc-PTPRD-5	chr9:11822678-11822704	XLOC_007647

Variant related genes	Relation type
ENSG00000224935	TF binding region
ENSG00000168234	chromatin interactions
CUL5	miRNA target sites
CSF1	miRNA target sites
FLOT2	miRNA target sites

Extended variants
information (count: 5427 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:5427 , 50 per page) page: 1 2 3 4 5 6 7 ... 109

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192652855	chr9:11775822-11775823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547627338	chr9:11775830-11775831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141547173	chr9:11775851-11775852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539517150	chr9:11775865-11775866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556654239	chr9:11775899-11775900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576486320	chr9:11775912-11775913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79041166	chr9:11775924-11775925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554894983	chr9:11775935-11775936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574745945	chr9:11775940-11775941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540526382	chr9:11775969-11775970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560062981	chr9:11776019-11776020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs137998948	chr9:11776048-11776049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545557390	chr9:11776053-11776054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557352747	chr9:11776072-11776073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562289351	chr9:11776091-11776092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531195702	chr9:11776096-11776097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184181194	chr9:11776109-11776110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561347477	chr9:11776118-11776119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543757040	chr9:11776126-11776127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188315465	chr9:11776127-11776128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149477690	chr9:11776132-11776133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76183680	chr9:11776146-11776147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368661825	chr9:11776147-11776148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12378615	chr9:11776151-11776152	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs143933463	chr9:11776168-11776169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570204790	chr9:11776176-11776177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535962554	chr9:11776185-11776186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192550312	chr9:11776197-11776198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542096046	chr9:11776198-11776199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373748417	chr9:11776222-11776223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533828385	chr9:11776227-11776228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184339298	chr9:11776242-11776243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374727001	chr9:11776251-11776252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546020098	chr9:11776270-11776271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs367806606	chr9:11776272-11776273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555946562	chr9:11776288-11776289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575683216	chr9:11776318-11776319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140314261	chr9:11776326-11776327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144161415	chr9:11776331-11776332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527317911	chr9:11776335-11776336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372667292	chr9:11776346-11776347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188920330	chr9:11776382-11776383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147432677	chr9:11776400-11776401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10960209	chr9:11779608-11779609	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs142723810	chr9:11779631-11779632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184240008	chr9:11779634-11779635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565225230	chr9:11779652-11779653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371669376	chr9:11779720-11779721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12379819	chr9:11779723-11779724	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs34973291	chr9:11779726-11779727	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
Barrett''s syndrome	19417022	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Schizophrenia	18511947	CNVD
Schizophrenia	23813976	CNVD
Type 2 diabetes	21526130	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11775800-11776400	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr9:11779600-11780800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:11788400-11788600	Enhancers	Pancreas	Pancrea
4	chr9:11795000-11795400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:11806000-11806600	Enhancers	Fetal Heart	heart
6	chr9:11812600-11813000	Enhancers	Fetal Brain Male	brain
7	chr9:11819200-11820000	Weak transcription	Fetal Brain Male	brain
8	chr9:11820000-11820200	Enhancers	Fetal Brain Male	brain
9	chr9:11820000-11821400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr9:11820200-11821000	Weak transcription	Fetal Brain Male	brain
11	chr9:11820600-11822600	Enhancers	Fetal Heart	heart
12	chr9:11820800-11821800	Enhancers	Fetal Brain Female	brain
13	chr9:11820800-11822600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:11821000-11823400	Enhancers	Fetal Brain Male	brain
15	chr9:11821400-11821800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:11821400-11821800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr9:11821400-11821800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr9:11821400-11821800	Enhancers	Pancreas	Pancrea
19	chr9:11821600-11822000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr9:11821800-11823000	Weak transcription	Fetal Brain Female	brain
21	chr9:11821800-11823200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr9:11823000-11823200	Enhancers	Fetal Brain Female	brain
23	chr9:11823400-11832200	Weak transcription	Fetal Brain Male	brain
24	chr9:11831800-11833000	Enhancers	Fetal Brain Female	brain
25	chr9:11832200-11832600	Enhancers	Fetal Brain Male	brain
26	chr9:11832600-11833600	Weak transcription	Fetal Brain Male	brain
27	chr9:11833600-11833800	Enhancers	Fetal Brain Male	brain
28	chr9:11867200-11868000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr9:11867200-11868000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr9:11867400-11867800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr9:11868800-11869000	Enhancers	Fetal Brain Female	brain
32	chr9:11869000-11871800	Weak transcription	Fetal Brain Female	brain
33	chr9:11871600-11871800	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr9:11871800-11872400	Enhancers	Fetal Brain Male	brain
35	chr9:11871800-11872600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr9:11871800-11872800	Enhancers	Fetal Brain Female	brain
37	chr9:11874000-11874600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr9:11874000-11874600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr9:11874200-11874600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr9:11874200-11874600	Enhancers	H9 Cell Line	embryonic stem cell
41	chr9:11874200-11874600	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr9:11874200-11874600	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr9:11874200-11874600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr9:11874200-11874800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr9:11874200-11875000	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr9:11874200-11875400	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr9:11874600-11875800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr9:11876000-11876200	Enhancers	H9 Cell Line	embryonic stem cell
49	chr9:11892600-11893200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr9:11892600-11893200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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