Variant report

Variant	nsv892263
Chromosome Location	chr9:9404896-9436044
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	CEBPB	chr9:9412259-9412459	H1-hESC	embryonic stem cell:	n/a	chr9:9412345-9412356
2	CEBPB	chr9:9416749-9417000	HepG2	liver:	n/a	chr9:9416870-9416881 chr9:9416868-9416879
3	CEBPB	chr9:9414945-9415249	HepG2	liver:	n/a	chr9:9415076-9415087 chr9:9415078-9415087
4	CEBPB	chr9:9414947-9415198	IMR90	lung:	n/a	chr9:9415076-9415087 chr9:9415078-9415087
5	CEBPB	chr9:9416768-9417004	A549	lung:	n/a	chr9:9416870-9416881 chr9:9416868-9416879
6	E2F4	chr9:9410925-9411125	MCF10A-Er-Src	breast:	n/a	n/a
7	FAM48A	chr9:9408571-9408681	GM12878	blood:	n/a	n/a
8	FOS	chr9:9414998-9415220	MCF10A-Er-Src	breast:	n/a	chr9:9415170-9415179
9	GATA3	chr9:9405490-9405603	SH-SY5Y	brain:	n/a	n/a
10	JUN	chr9:9407109-9407325	HepG2	liver:	n/a	chr9:9407244-9407257
11	JUND	chr9:9407120-9407417	HepG2	liver:	n/a	n/a
12	JUND	chr9:9432803-9432928	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAFK	chr9:9408449-9408455	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAZ	chr9:9432923-9432983	HepG2	liver:	n/a	n/a
15	MYC	chr9:9429496-9429615	HepG2	liver:	n/a	n/a
16	MYC	chr9:9429526-9429607	K562	blood:	n/a	n/a
17	NFYB	chr9:9406526-9406713	GM12878	blood:	n/a	n/a
18	POLR2A	chr9:9412783-9412983	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr9:9422080-9422174	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr9:9429468-9429622	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr9:9420247-9420248	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr9:9416763-9416828	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr9:9424057-9424132	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr9:9411379-9411727	H1-neurons	neurons:	n/a	n/a
25	POLR2A	chr9:9421348-9421548	MCF10A-Er-Src	breast:	n/a	n/a
26	SPI1	chr9:9430047-9430153	GM12891	blood:	n/a	n/a
27	STAT3	chr9:9412838-9412982	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr9:9420570-9420672	GM12878	blood:	n/a	n/a
29	STAT3	chr9:9434353-9434508	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000221708	TF binding region

Extended variants
information (count: 1035 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:1035 , 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	rs10816124	chr9:9404896-9404897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549860746	chr9:9404904-9404905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376402013	chr9:9404938-9404939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547509920	chr9:9404955-9404956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10759064	chr9:9405003-9405004	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs78809732	chr9:9405032-9405033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs28661243	chr9:9405071-9405072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567133753	chr9:9405092-9405093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184053432	chr9:9405095-9405096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534518032	chr9:9405127-9405128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558835109	chr9:9405183-9405184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577375023	chr9:9405217-9405218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143602349	chr9:9405230-9405231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1475680	chr9:9405316-9405317	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs556413981	chr9:9405325-9405326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371483218	chr9:9405346-9405347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556664561	chr9:9405348-9405349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570201323	chr9:9405362-9405363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574470006	chr9:9405403-9405404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs59776621	chr9:9405405-9405406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10122096	chr9:9405431-9405432	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs371584483	chr9:9405481-9405482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571982349	chr9:9405499-9405500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546081764	chr9:9405501-9405502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535780014	chr9:9405502-9405503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555675715	chr9:9405528-9405529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564087018	chr9:9405531-9405532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531578271	chr9:9405541-9405542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545164936	chr9:9405555-9405556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561796768	chr9:9405606-9405607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185781488	chr9:9405620-9405621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116836864	chr9:9405644-9405645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148071488	chr9:9405647-9405648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140808387	chr9:9405703-9405704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574936551	chr9:9405718-9405719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144781598	chr9:9405731-9405732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567853403	chr9:9405738-9405739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190990956	chr9:9405740-9405741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538460264	chr9:9405759-9405760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138290440	chr9:9405770-9405771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568180802	chr9:9405792-9405793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535577283	chr9:9405839-9405840	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553704117	chr9:9405840-9405841	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572118033	chr9:9405855-9405856	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35813556	chr9:9405873-9405874	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142868709	chr9:9405929-9405930	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558082087	chr9:9405947-9405948	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368349913	chr9:9405956-9405957	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10977733	chr9:9405971-9405972	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs560499432	chr9:9405989-9405990	Active TSS Enhancers 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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9400800-9405800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr9:9401000-9406200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr9:9405000-9407000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr9:9405400-9407000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr9:9405600-9405800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:9405800-9406200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr9:9405800-9406400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr9:9405800-9406600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr9:9405800-9406800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr9:9406200-9406600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr9:9406200-9406600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr9:9406200-9407000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:9406800-9407000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr9:9407000-9407200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr9:9407000-9407800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr9:9407000-9408400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:9408200-9409000	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr9:9408400-9411400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:9409000-9409400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr9:9409400-9410800	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr9:9410400-9411800	Enhancers	Brain Hippocampus Middle	brain
22	chr9:9410600-9411000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr9:9410800-9411200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr9:9411200-9411800	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr9:9411400-9412000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr9:9411400-9412800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr9:9411800-9412600	Enhancers	Fetal Brain Female	brain
28	chr9:9411800-9413800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr9:9412000-9412400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr9:9412000-9412400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr9:9412400-9412600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:9412600-9413600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:9413600-9415200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr9:9413800-9414000	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr9:9414000-9414400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr9:9414400-9414600	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr9:9414600-9415200	Enhancers	Stomach Mucosa	stomach
38	chr9:9414600-9417800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr9:9417800-9418000	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr9:9418000-9418400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr9:9418400-9419000	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr9:9419000-9420400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr9:9420400-9421200	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr9:9432400-9434400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr9:9432600-9433400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr9:9432600-9434000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr9:9432600-9434000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr9:9432800-9433400	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr9:9432800-9434000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr9:9433000-9433400	Enhancers	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links