Variant report

Variant	nsv1023820
Chromosome Location	chr9:9414754-9468456
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	chr9:9414947-9415198	IMR90	lung:	n/a	chr9:9415076-9415087 chr9:9415078-9415087
6	CEBPB	chr9:9416749-9417000	HepG2	liver:	n/a	chr9:9416870-9416881 chr9:9416868-9416879
7	CEBPB	chr9:9416768-9417004	A549	lung:	n/a	chr9:9416870-9416881 chr9:9416868-9416879
8	CEBPB	chr9:9443446-9443672	HepG2	liver:	n/a	n/a
9	CEBPB	chr9:9414945-9415249	HepG2	liver:	n/a	chr9:9415076-9415087 chr9:9415078-9415087
10	CTCF	chr9:9442030-9442325	A549	lung:	n/a	n/a
11	CTCF	chr9:9462000-9462150	HRE	kidney:	n/a	n/a
12	CTCF	chr9:9442009-9442372	A549	lung:	n/a	n/a
13	CTCF	chr9:9458920-9459070	GM12864	blood:	n/a	n/a
14	CTCF	chr9:9442164-9442267	Pancreas_OC	pancreas:	n/a	n/a
15	CTCF	chr9:9467281-9467360	GM13977	blood:	n/a	n/a
16	EBF1	chr9:9442017-9442320	GM12878	blood:	n/a	n/a
17	EP300	chr9:9442075-9442246	GM12878	blood:	n/a	n/a
18	EP300	chr9:9441982-9442347	GM12878	blood:	n/a	n/a
19	FOS	chr9:9414998-9415220	MCF10A-Er-Src	breast:	n/a	chr9:9415170-9415179
20	FOSL2	chr9:9441982-9442363	HepG2	liver:	n/a	n/a
21	FOSL2	chr9:9441990-9442335	HepG2	liver:	n/a	n/a
22	GABPA	chr9:9442055-9442325	Hela-S3	cervix:	n/a	n/a
23	GABPA	chr9:9442066-9442254	Hela-S3	cervix:	n/a	n/a
24	GATA2	chr9:9442037-9442339	K562	blood:	n/a	n/a
25	HEY1	chr9:9442020-9442324	HepG2	liver:	n/a	n/a
26	HEY1	chr9:9442009-9442319	K562	blood:	n/a	n/a
27	HEY1	chr9:9442032-9442325	K562	blood:	n/a	n/a
28	HEY1	chr9:9442066-9442244	HepG2	liver:	n/a	n/a
29	IRF4	chr9:9441962-9442364	GM12878	blood:	n/a	n/a
30	IRF4	chr9:9441996-9442360	GM12878	blood:	n/a	n/a
31	JUND	chr9:9442006-9442290	HepG2	liver:	n/a	n/a
32	JUND	chr9:9442051-9442270	HepG2	liver:	n/a	n/a
33	JUND	chr9:9432803-9432928	H1-hESC	embryonic stem cell:	n/a	n/a
34	JUND	chr9:9441964-9442336	A549	lung:	n/a	n/a
35	MAFF	chr9:9439416-9439635	HepG2	liver:	n/a	n/a
36	MAFF	chr9:9446286-9446580	HepG2	liver:	n/a	chr9:9446408-9446426 chr9:9446414-9446428
37	MAFK	chr9:9451002-9451257	HepG2	liver:	n/a	chr9:9451100-9451117 chr9:9451104-9451120 chr9:9451108-9451119 chr9:9451107-9451121
38	MAFK	chr9:9439532-9439665	HepG2	liver:	n/a	n/a
39	MAFK	chr9:9439486-9439707	HepG2	liver:	n/a	n/a
40	MAFK	chr9:9446267-9446524	IMR90	lung:	n/a	chr9:9446410-9446426 chr9:9446411-9446422 chr9:9446414-9446428 chr9:9446409-9446423 chr9:9446410-9446425 chr9:9446413-9446429 chr9:9446411-9446431 chr9:9446410-9446421
41	MAFK	chr9:9446236-9446591	HepG2	liver:	n/a	chr9:9446410-9446426 chr9:9446411-9446422 chr9:9446414-9446428 chr9:9446409-9446423 chr9:9446410-9446425 chr9:9446413-9446429 chr9:9446411-9446431 chr9:9446410-9446421
42	MAFK	chr9:9439425-9439702	H1-hESC	embryonic stem cell:	n/a	n/a
43	MAFK	chr9:9446262-9446585	HepG2	liver:	n/a	chr9:9446410-9446426 chr9:9446411-9446422 chr9:9446414-9446428 chr9:9446409-9446423 chr9:9446410-9446425 chr9:9446413-9446429 chr9:9446411-9446431 chr9:9446410-9446421
44	MAX	chr9:9445987-9446261	NB4	blood:	n/a	chr9:9446078-9446089 chr9:9446120-9446127 chr9:9446079-9446089 chr9:9446119-9446128
45	MAZ	chr9:9432923-9432983	HepG2	liver:	n/a	n/a
46	MXI1	chr9:9445939-9446035	GM12878	blood:	n/a	n/a
47	MYBL2	chr9:9441986-9442353	HepG2	liver:	n/a	n/a
48	MYC	chr9:9429496-9429615	HepG2	liver:	n/a	n/a
49	MYC	chr9:9429526-9429607	K562	blood:	n/a	n/a
50	PAX5	chr9:9441994-9442348	GM12878	blood:	n/a	chr9:9442338-9442347 chr9:9441996-9442005

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

Extended variants
information (count: 1046 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:1046 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143459800	chr9:9414759-9414760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577029433	chr9:9414775-9414776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182093822	chr9:9414782-9414783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373647137	chr9:9414801-9414802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10759067	chr9:9414806-9414807	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs565910911	chr9:9414819-9414820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12346216	chr9:9414834-9414835	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs572072791	chr9:9414856-9414857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11790368	chr9:9414893-9414894	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs112129417	chr9:9414897-9414898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1556526	chr9:9414923-9414924	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs531380162	chr9:9414955-9414956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557728161	chr9:9414980-9414981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1556527	chr9:9415000-9415001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563155006	chr9:9415016-9415017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140335277	chr9:9415017-9415018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113842033	chr9:9415022-9415023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187668270	chr9:9415035-9415036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566965551	chr9:9415047-9415048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574389764	chr9:9415060-9415061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115945319	chr9:9415061-9415062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552302650	chr9:9415097-9415098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554286084	chr9:9415098-9415099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537810426	chr9:9415121-9415122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536517576	chr9:9415198-9415199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556144000	chr9:9415258-9415259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574647242	chr9:9415260-9415261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572603581	chr9:9415262-9415263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12379010	chr9:9415274-9415275	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs572174887	chr9:9415276-9415277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545909605	chr9:9415281-9415282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564208970	chr9:9415306-9415307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576213127	chr9:9415350-9415351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192822468	chr9:9415358-9415359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561549402	chr9:9415405-9415406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530382146	chr9:9415431-9415432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548631205	chr9:9415458-9415459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560737111	chr9:9415503-9415504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527923083	chr9:9415505-9415506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376335351	chr9:9415507-9415508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552365688	chr9:9415509-9415510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570565693	chr9:9415539-9415540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531714483	chr9:9415567-9415568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550115361	chr9:9415578-9415579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551574668	chr9:9415579-9415580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535718338	chr9:9415606-9415607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184810642	chr9:9415613-9415614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565857637	chr9:9415615-9415616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572733062	chr9:9415648-9415649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368412140	chr9:9415668-9415669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
Autism	20531469	CNVD
Lung adenocarcinoma	17982442	CNVD
Renal cell carcinoma	21215367	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9413600-9415200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:9414600-9415200	Enhancers	Stomach Mucosa	stomach
3	chr9:9414600-9417800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr9:9417800-9418000	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr9:9418000-9418400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr9:9418400-9419000	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr9:9419000-9420400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr9:9420400-9421200	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr9:9432400-9434400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr9:9432600-9433400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr9:9432600-9434000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr9:9432600-9434000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr9:9432800-9433400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr9:9432800-9434000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:9433000-9433400	Enhancers	H1 Cell Line	embryonic stem cell
16	chr9:9433000-9433400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr9:9433000-9433400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:9433000-9433400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr9:9433000-9433400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr9:9433000-9433400	Enhancers	Brain Cingulate Gyrus	brain
21	chr9:9433000-9433600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr9:9434000-9436200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:9434000-9437400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr9:9434400-9434600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr9:9436200-9436400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr9:9436400-9436800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:9437400-9438200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr9:9439400-9439600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr9:9447800-9450000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr9:9449000-9449400	Enhancers	Brain Substantia Nigra	brain
31	chr9:9464000-9465000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr9:9465000-9465800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr9:9465800-9469600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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