Variant report

Variant	nsv1025791
Chromosome Location	chr9:9294304-9626331
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	ARID3A	chr9:9607103-9607150	HepG2	liver:	n/a	n/a
2	ATF2	chr9:9556917-9557412	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr9:9556963-9557495	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr9:9606598-9607191	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr9:9556876-9557418	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr9:9442020-9442372	GM12878	blood:	n/a	n/a
7	BCL11A	chr9:9557044-9557284	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL11A	chr9:9557030-9557375	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCL11A	chr9:9442026-9442309	GM12878	blood:	n/a	n/a
10	BCL11A	chr9:9442015-9442337	GM12878	blood:	n/a	n/a
11	BHLHE40	chr9:9442013-9442278	HepG2	liver:	n/a	n/a
12	CEBPB	chr9:9584777-9585125	IMR90	lung:	n/a	chr9:9584895-9584906 chr9:9584940-9584949 chr9:9584940-9584951 chr9:9584938-9584951 chr9:9584938-9584949
13	CEBPB	chr9:9294001-9294320	HepG2	liver:	n/a	chr9:9294176-9294187
14	CEBPB	chr9:9510269-9510515	HepG2	liver:	n/a	chr9:9510386-9510397
15	CEBPB	chr9:9414947-9415198	IMR90	lung:	n/a	chr9:9415076-9415087 chr9:9415078-9415087
16	CEBPB	chr9:9412259-9412459	H1-hESC	embryonic stem cell:	n/a	chr9:9412345-9412356
17	CEBPB	chr9:9565222-9565353	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr9:9585313-9585609	A549	lung:	n/a	chr9:9585490-9585501
19	CEBPB	chr9:9378415-9378701	A549	lung:	n/a	chr9:9378542-9378553
20	CEBPB	chr9:9498158-9498453	A549	lung:	n/a	chr9:9498312-9498325 chr9:9498312-9498325 chr9:9498312-9498323 chr9:9498244-9498257 chr9:9498314-9498325
21	CEBPB	chr9:9592134-9592483	H1-hESC	embryonic stem cell:	n/a	chr9:9592298-9592309
22	CEBPB	chr9:9584844-9585085	H1-hESC	embryonic stem cell:	n/a	chr9:9584895-9584906 chr9:9584940-9584949 chr9:9584940-9584951 chr9:9584938-9584951 chr9:9584938-9584949
23	CEBPB	chr9:9581432-9581728	HepG2	liver:	n/a	chr9:9581596-9581607
24	CEBPB	chr9:9592140-9592364	K562	blood:	n/a	chr9:9592298-9592309
25	CEBPB	chr9:9479287-9479475	HepG2	liver:	n/a	chr9:9479420-9479431
26	CEBPB	chr9:9515940-9516172	HepG2	liver:	n/a	chr9:9516035-9516046
27	CEBPB	chr9:9498173-9498425	Hela-S3	cervix:	n/a	chr9:9498312-9498325 chr9:9498312-9498325 chr9:9498312-9498323 chr9:9498244-9498257 chr9:9498314-9498325
28	CEBPB	chr9:9378391-9378685	H1-hESC	embryonic stem cell:	n/a	chr9:9378542-9378553
29	CEBPB	chr9:9584802-9585109	A549	lung:	n/a	chr9:9584895-9584906 chr9:9584940-9584949 chr9:9584940-9584951 chr9:9584938-9584951 chr9:9584938-9584949
30	CEBPB	chr9:9585348-9585612	HepG2	liver:	n/a	chr9:9585490-9585501
31	CEBPB	chr9:9340162-9340258	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr9:9570675-9570771	HepG2	liver:	n/a	chr9:9570747-9570758
33	CEBPB	chr9:9416749-9417000	HepG2	liver:	n/a	chr9:9416870-9416881 chr9:9416868-9416879
34	CEBPB	chr9:9592133-9592469	HepG2	liver:	n/a	chr9:9592298-9592309
35	CEBPB	chr9:9584779-9585129	HepG2	liver:	n/a	chr9:9584895-9584906 chr9:9584940-9584949 chr9:9584940-9584951 chr9:9584938-9584951 chr9:9584938-9584949
36	CEBPB	chr9:9592161-9592432	A549	lung:	n/a	chr9:9592298-9592309
37	CEBPB	chr9:9498110-9498489	HepG2	liver:	n/a	chr9:9498312-9498325 chr9:9498312-9498325 chr9:9498312-9498323 chr9:9498244-9498257 chr9:9498314-9498325
38	CEBPB	chr9:9592123-9592456	IMR90	lung:	n/a	chr9:9592298-9592309
39	CEBPB	chr9:9400061-9400321	HepG2	liver:	n/a	chr9:9400176-9400187 chr9:9400178-9400189
40	CEBPB	chr9:9378401-9378621	HepG2	liver:	n/a	chr9:9378542-9378553
41	CEBPB	chr9:9592221-9592476	Hela-S3	cervix:	n/a	chr9:9592298-9592309
42	CEBPB	chr9:9585366-9585667	IMR90	lung:	n/a	chr9:9585490-9585501
43	CEBPB	chr9:9443446-9443672	HepG2	liver:	n/a	n/a
44	CEBPB	chr9:9416768-9417004	A549	lung:	n/a	chr9:9416870-9416881 chr9:9416868-9416879
45	CEBPB	chr9:9414945-9415249	HepG2	liver:	n/a	chr9:9415076-9415087 chr9:9415078-9415087
46	CHD2	chr9:9401705-9401870	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD2	chr9:9556913-9557883	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr9:9606548-9606760	HepG2	liver:	n/a	chr9:9606691-9606700 chr9:9606690-9606711 chr9:9606688-9606706
49	CTCF	chr9:9353060-9353210	GM12868	blood:	n/a	chr9:9353070-9353079 chr9:9353064-9353082 chr9:9353066-9353079
50	CTCF	chr9:9353040-9353190	Caco-2	colon:	n/a	chr9:9353070-9353079 chr9:9353064-9353082 chr9:9353066-9353079

No.	Distal block	Cell Line	Cell type
1	chr9:9539103..9541014-chr9:9543806..9546014,2	K562	blood:
2	chr9:9353280..9355692-chr9:9355746..9358583,2	K562	blood:
3	chr9:9353280..9355692-chr9:9355746..9358583,2	K562	blood:
4	chr9:9606591..9607143-chr9:9791328..9791942,2	MCF-7	breast:
5	chr9:9539103..9541014-chr9:9543806..9546014,2	K562	blood:
6	chr9:9606480..9607195-chr9:9789919..9790916,3	MCF-7	breast:
7	chr9:9606507..9607603-chr9:9789935..9790958,7	MCF-7	breast:
8	chr9:9606153..9607209-chr9:9791346..9792141,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221708	TF binding region
RN7SL5P	TF binding region

Extended variants
information (count: 7422 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:7422 , 50 per page) page: 1 2 3 4 5 6 7 ... 149

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561512187	chr9:9305801-9305802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79103170	chr9:9305815-9305816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114394836	chr9:9305873-9305874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566492588	chr9:9305880-9305881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375947055	chr9:9305899-9305900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538614165	chr9:9305906-9305907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144252607	chr9:9305909-9305910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114275008	chr9:9305910-9305911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73390838	chr9:9305944-9305945	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs75584531	chr9:9305995-9305996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536203526	chr9:9306402-9306403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370510347	chr9:9306446-9306447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199773460	chr9:9306479-9306480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554362727	chr9:9306481-9306482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566153541	chr9:9306491-9306492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539888006	chr9:9306513-9306514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557992633	chr9:9306534-9306535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576509600	chr9:9306558-9306559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142369340	chr9:9306587-9306588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs398010284	chr9:9306589-9306590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543395552	chr9:9306643-9306644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145605112	chr9:9306826-9306827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76795589	chr9:9306896-9306897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188768954	chr9:9306919-9306920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559457046	chr9:9307038-9307039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532995301	chr9:9307104-9307105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192425602	chr9:9307162-9307163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184761246	chr9:9307185-9307186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1333106	chr9:9307207-9307208	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs150951622	chr9:9307241-9307242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559986146	chr9:9307260-9307261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567275943	chr9:9307312-9307313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529572727	chr9:9307354-9307355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140794737	chr9:9307397-9307398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566235587	chr9:9307449-9307450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150078381	chr9:9307454-9307455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558364492	chr9:9307456-9307457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570042545	chr9:9307464-9307465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537194204	chr9:9307474-9307475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375639302	chr9:9307533-9307534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188037484	chr9:9307544-9307545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573704469	chr9:9307569-9307570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540891335	chr9:9307583-9307584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs180877363	chr9:9307587-9307588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184645272	chr9:9307628-9307629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189563444	chr9:9307687-9307688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563549031	chr9:9307753-9307754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530575057	chr9:9307768-9307769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542755591	chr9:9307784-9307785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560834248	chr9:9307785-9307786	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
abnormal development	18461090	CNVD
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
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
XY gonadal dysgenesis	20685758	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
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	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
Renal cell carcinoma	21215367	CNVD
Autism	20531469	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	22522925	CNVD
Gastric cancer	22315472	CNVD

Chromatin state (count:446 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9305800-9306000	Enhancers	Fetal Stomach	stomach
2	chr9:9306400-9307400	Weak transcription	Fetal Stomach	stomach
3	chr9:9307200-9309800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:9307400-9308000	Enhancers	Fetal Stomach	stomach
5	chr9:9307800-9308600	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr9:9309800-9310400	Enhancers	Fetal Heart	heart
7	chr9:9309800-9311200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:9310200-9310800	Enhancers	Pancreas	Pancrea
9	chr9:9310400-9310600	Enhancers	Stomach Mucosa	stomach
10	chr9:9311200-9311600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:9311400-9311600	Enhancers	Stomach Mucosa	stomach
12	chr9:9311600-9313400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:9313400-9313600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:9317400-9319600	Enhancers	Stomach Mucosa	stomach
15	chr9:9318400-9319400	Enhancers	Brain Cingulate Gyrus	brain
16	chr9:9318600-9318800	Enhancers	Brain Angular Gyrus	brain
17	chr9:9318600-9319000	Enhancers	Brain Anterior Caudate	brain
18	chr9:9318800-9319000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:9318800-9319000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr9:9318800-9319200	Flanking Active TSS	Brain Angular Gyrus	brain
21	chr9:9318800-9319200	Enhancers	Brain Hippocampus Middle	brain
22	chr9:9318800-9319200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr9:9318800-9319400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr9:9318800-9319400	Enhancers	Fetal Kidney	kidney
25	chr9:9318800-9319400	Enhancers	Fetal Lung	lung
26	chr9:9318800-9319600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr9:9319000-9319200	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr9:9319000-9319400	Enhancers	H9 Cell Line	embryonic stem cell
29	chr9:9319000-9319400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
30	chr9:9319200-9319400	Active TSS	Brain Anterior Caudate	brain
31	chr9:9319200-9319600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr9:9319200-9319800	Enhancers	Brain Angular Gyrus	brain
33	chr9:9326000-9327600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr9:9326600-9327200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr9:9327000-9327200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr9:9327200-9331400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr9:9327200-9331600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr9:9327600-9329800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr9:9329600-9330400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr9:9329600-9331800	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr9:9329800-9330000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr9:9329800-9330200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr9:9329800-9330200	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr9:9329800-9330600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr9:9329800-9333400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr9:9330000-9330200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr9:9330200-9331000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr9:9330200-9332200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr9:9330200-9335800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr9:9330400-9330800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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