Variant report

Variant	nsv892252
Chromosome Location	chr9:9164473-9476425
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	BATF	chr9:9442020-9442372	GM12878	blood:	n/a	n/a
2	BCL11A	chr9:9442015-9442337	GM12878	blood:	n/a	n/a
3	BCL11A	chr9:9442026-9442309	GM12878	blood:	n/a	n/a
4	BHLHE40	chr9:9442013-9442278	HepG2	liver:	n/a	n/a
5	CEBPB	chr9:9416749-9417000	HepG2	liver:	n/a	chr9:9416870-9416881 chr9:9416868-9416879
6	CEBPB	chr9:9414945-9415249	HepG2	liver:	n/a	chr9:9415076-9415087 chr9:9415078-9415087
7	CEBPB	chr9:9378391-9378685	H1-hESC	embryonic stem cell:	n/a	chr9:9378542-9378553
8	CEBPB	chr9:9214265-9214465	HepG2	liver:	n/a	chr9:9214334-9214345
9	CEBPB	chr9:9184918-9185156	H1-hESC	embryonic stem cell:	n/a	chr9:9185056-9185069 chr9:9185058-9185069 chr9:9185058-9185067 chr9:9184998-9185011 chr9:9185056-9185067
10	CEBPB	chr9:9226707-9226943	A549	lung:	n/a	chr9:9226847-9226860 chr9:9226849-9226860 chr9:9226847-9226858
11	CEBPB	chr9:9226711-9226991	IMR90	lung:	n/a	chr9:9226847-9226860 chr9:9226849-9226860 chr9:9226847-9226858
12	CEBPB	chr9:9400061-9400321	HepG2	liver:	n/a	chr9:9400176-9400187 chr9:9400178-9400189
13	CEBPB	chr9:9184992-9185148	IMR90	lung:	n/a	chr9:9185056-9185069 chr9:9185058-9185069 chr9:9185058-9185067 chr9:9184998-9185011 chr9:9185056-9185067
14	CEBPB	chr9:9378401-9378621	HepG2	liver:	n/a	chr9:9378542-9378553
15	CEBPB	chr9:9414947-9415198	IMR90	lung:	n/a	chr9:9415076-9415087 chr9:9415078-9415087
16	CEBPB	chr9:9340162-9340258	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr9:9174449-9174740	HepG2	liver:	n/a	chr9:9174591-9174600 chr9:9174590-9174601 chr9:9174656-9174669 chr9:9174589-9174602 chr9:9174589-9174600
18	CEBPB	chr9:9412259-9412459	H1-hESC	embryonic stem cell:	n/a	chr9:9412345-9412356
19	CEBPB	chr9:9378415-9378701	A549	lung:	n/a	chr9:9378542-9378553
20	CEBPB	chr9:9219422-9219423	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr9:9226688-9226885	K562	blood:	n/a	chr9:9226847-9226860 chr9:9226849-9226860 chr9:9226847-9226858
22	CEBPB	chr9:9416768-9417004	A549	lung:	n/a	chr9:9416870-9416881 chr9:9416868-9416879
23	CEBPB	chr9:9226676-9227019	HepG2	liver:	n/a	chr9:9226847-9226860 chr9:9226849-9226860 chr9:9226847-9226858
24	CEBPB	chr9:9293996-9294301	A549	lung:	n/a	chr9:9294176-9294187
25	CEBPB	chr9:9255418-9255716	HepG2	liver:	n/a	n/a
26	CEBPB	chr9:9184906-9185209	HepG2	liver:	n/a	chr9:9185056-9185069 chr9:9185058-9185069 chr9:9185058-9185067 chr9:9184998-9185011 chr9:9185056-9185067
27	CEBPB	chr9:9443446-9443672	HepG2	liver:	n/a	n/a
28	CEBPB	chr9:9177863-9178135	HepG2	liver:	n/a	chr9:9177988-9177999
29	CEBPB	chr9:9191327-9191565	HepG2	liver:	n/a	n/a
30	CEBPB	chr9:9177847-9178081	A549	lung:	n/a	chr9:9177988-9177999
31	CEBPB	chr9:9294001-9294320	HepG2	liver:	n/a	chr9:9294176-9294187
32	CEBPB	chr9:9174467-9174707	IMR90	lung:	n/a	chr9:9174591-9174600 chr9:9174590-9174601 chr9:9174656-9174669 chr9:9174589-9174602 chr9:9174589-9174600
33	CHD2	chr9:9401705-9401870	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr9:9179580-9179730	AG10803	skin:	n/a	chr9:9179717-9179725
35	CTCF	chr9:9372011-9372062	Kidney_OC	kidney:	n/a	n/a
36	CTCF	chr9:9352900-9353050	HFF-Myc	foreskin:	n/a	n/a
37	CTCF	chr9:9193713-9193786	GM10248	blood:	n/a	n/a
38	CTCF	chr9:9337280-9337430	GM12865	blood:	n/a	chr9:9337334-9337342
39	CTCF	chr9:9352960-9353110	GM12865	blood:	n/a	chr9:9353070-9353079 chr9:9353064-9353082 chr9:9353066-9353079
40	CTCF	chr9:9352980-9353176	Spleen_OC	spleen:	n/a	chr9:9353070-9353079 chr9:9353064-9353082 chr9:9353066-9353079
41	CTCF	chr9:9337302-9337393	GM12878	blood:	n/a	chr9:9337334-9337342
42	CTCF	chr9:9337261-9337392	HepG2	liver:	n/a	chr9:9337334-9337342
43	CTCF	chr9:9462000-9462150	HRE	kidney:	n/a	n/a
44	CTCF	chr9:9391521-9391538	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr9:9352980-9353130	SAEC	small airway:	n/a	chr9:9353070-9353079 chr9:9353064-9353082 chr9:9353066-9353079
46	CTCF	chr9:9337200-9337350	HepG2	liver:	n/a	chr9:9337334-9337342
47	CTCF	chr9:9353000-9353150	K562	blood:	n/a	chr9:9353070-9353079 chr9:9353064-9353082 chr9:9353066-9353079
48	CTCF	chr9:9353000-9353150	BE2_C	brain:	n/a	chr9:9353070-9353079 chr9:9353064-9353082 chr9:9353066-9353079
49	CTCF	chr9:9352919-9353244	K562	blood:	n/a	chr9:9353070-9353079 chr9:9353064-9353082 chr9:9353066-9353079
50	CTCF	chr9:9337220-9337370	GM12867	blood:	n/a	chr9:9337334-9337342

No.	Distal block	Cell Line	Cell type
1	chr9:9353280..9355692-chr9:9355746..9358583,2	K562	blood:
2	chr9:9179702..9181500-chr9:9182795..9185230,2	K562	blood:
3	chr9:9179702..9181500-chr9:9182795..9185230,2	K562	blood:
4	chr9:9353280..9355692-chr9:9355746..9358583,2	K562	blood:

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

Extended variants
information (count: 5383 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:5383 , 50 per page) page: 1 2 3 4 5 6 7 ... 108

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560331802	chr9:9168216-9168217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545735350	chr9:9168218-9168219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527694457	chr9:9168254-9168255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552118753	chr9:9168256-9168257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185912723	chr9:9168261-9168262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553833220	chr9:9168267-9168268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575567389	chr9:9168341-9168342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531672991	chr9:9168355-9168356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576231167	chr9:9168680-9168681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543526296	chr9:9168715-9168716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140120433	chr9:9168731-9168732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143500439	chr9:9168744-9168745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542010193	chr9:9168752-9168753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147172645	chr9:9168802-9168803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116244465	chr9:9168806-9168807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545822130	chr9:9168824-9168825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189153765	chr9:9168848-9168849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531734638	chr9:9168876-9168877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549862104	chr9:9168877-9168878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561997639	chr9:9168882-9168883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529092715	chr9:9168898-9168899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140263035	chr9:9168926-9168927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181869432	chr9:9168943-9168944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539721581	chr9:9168959-9168960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530257228	chr9:9168969-9168970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551428853	chr9:9169002-9169003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186400586	chr9:9169003-9169004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537189706	chr9:9169030-9169031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555442883	chr9:9169035-9169036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7027972	chr9:9169043-9169044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs375824038	chr9:9169047-9169048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144213992	chr9:9169053-9169054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530659429	chr9:9169067-9169068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554052177	chr9:9169082-9169083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572735174	chr9:9169118-9169119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546080220	chr9:9169123-9169124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78022948	chr9:9169149-9169150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576034297	chr9:9169237-9169238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369180577	chr9:9169249-9169250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543374835	chr9:9169269-9169270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73403422	chr9:9169270-9169271	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs529338764	chr9:9169271-9169272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190685937	chr9:9169303-9169304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182928143	chr9:9169317-9169318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186204372	chr9:9169327-9169328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377580125	chr9:9169330-9169331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145593872	chr9:9169344-9169345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575321623	chr9:9169368-9169369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191457049	chr9:9169377-9169378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560279284	chr9:9169400-9169401	Weak transcription	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
Chordoma	21215367	CNVD
Renal cell carcinoma	21215367	CNVD
Autism	20531469	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9168200-9168400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr9:9168600-9169600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr9:9169600-9171600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr9:9169800-9170200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:9169800-9170400	Enhancers	Brain Hippocampus Middle	brain
6	chr9:9170200-9170400	Enhancers	Brain Cingulate Gyrus	brain
7	chr9:9170200-9170600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:9170200-9171200	Enhancers	Brain Germinal Matrix	brain
9	chr9:9170400-9170600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr9:9170400-9170600	Active TSS	Brain Hippocampus Middle	brain
11	chr9:9170400-9170600	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr9:9170400-9170600	Enhancers	Brain Substantia Nigra	brain
13	chr9:9170400-9171000	Flanking Active TSS	Brain Cingulate Gyrus	brain
14	chr9:9170400-9171200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr9:9170600-9170800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr9:9170600-9170800	Enhancers	Dnd41	blood
17	chr9:9170600-9171000	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr9:9170600-9171000	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr9:9170600-9171000	Flanking Active TSS	Brain Substantia Nigra	brain
20	chr9:9170600-9171200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:9170800-9171000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr9:9170800-9171200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr9:9170800-9171200	Enhancers	Brain Angular Gyrus	brain
24	chr9:9170800-9171200	Active TSS	Brain Anterior Caudate	brain
25	chr9:9170800-9171200	Enhancers	Fetal Lung	lung
26	chr9:9170800-9171400	Flanking Active TSS	Dnd41	blood
27	chr9:9171000-9171200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr9:9171000-9171200	Active TSS	Brain Cingulate Gyrus	brain
29	chr9:9171000-9171200	Active TSS	Brain Hippocampus Middle	brain
30	chr9:9171000-9171200	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr9:9171200-9171400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr9:9171200-9174600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr9:9171400-9172200	Enhancers	Dnd41	blood
34	chr9:9173000-9173600	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr9:9177600-9179600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr9:9177800-9179000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr9:9179200-9179600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr9:9179400-9179600	Enhancers	Fetal Stomach	stomach
39	chr9:9179800-9183800	Weak transcription	Fetal Stomach	stomach
40	chr9:9181800-9182600	Enhancers	Fetal Lung	lung
41	chr9:9182600-9186000	Weak transcription	Fetal Lung	lung
42	chr9:9183800-9184400	Enhancers	Fetal Stomach	stomach
43	chr9:9186000-9186800	Enhancers	Fetal Lung	lung
44	chr9:9187400-9187800	Enhancers	Fetal Brain Female	brain
45	chr9:9192000-9192600	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr9:9192600-9193200	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr9:9199400-9199600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr9:9199800-9202200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr9:9200000-9200600	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr9:9200000-9200800	Enhancers	H1 Cell Line	embryonic stem cell

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