Variant report

Variant	nsv539981
Chromosome Location	chr9:8907952-9030627
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	chr9:8961022-8961768	HepG2	liver:	n/a	n/a
2	BHLHE40	chr9:8961130-8961628	HepG2	liver:	n/a	n/a
3	BRCA1	chr9:8961431-8961631	HepG2	liver:	n/a	n/a
4	CEBPB	chr9:8910663-8910909	HepG2	liver:	n/a	n/a
5	CEBPB	chr9:9014250-9014489	HepG2	liver:	n/a	n/a
6	CEBPB	chr9:8910651-8910799	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr9:8926157-8926470	IMR90	lung:	n/a	chr9:8926304-8926313 chr9:8926302-8926313 chr9:8926304-8926315
8	CEBPB	chr9:9010715-9011060	HepG2	liver:	n/a	chr9:9010892-9010905 chr9:9010894-9010903 chr9:9010892-9010903
9	CEBPB	chr9:9010826-9010992	K562	blood:	n/a	chr9:9010892-9010905 chr9:9010894-9010903 chr9:9010892-9010903
10	CEBPB	chr9:9006505-9006741	HepG2	liver:	n/a	n/a
11	CEBPB	chr9:8946121-8946175	A549	lung:	n/a	n/a
12	CEBPB	chr9:8961294-8961477	HepG2	liver:	n/a	n/a
13	CEBPB	chr9:9010741-9010996	A549	lung:	n/a	chr9:9010892-9010905 chr9:9010894-9010903 chr9:9010892-9010903
14	CEBPB	chr9:8926156-8926446	HepG2	liver:	n/a	chr9:8926304-8926313 chr9:8926302-8926313 chr9:8926304-8926315
15	CEBPB	chr9:8990081-8990286	A549	lung:	n/a	chr9:8990232-8990245 chr9:8990232-8990243
16	CEBPB	chr9:9010854-9010971	H1-hESC	embryonic stem cell:	n/a	chr9:9010892-9010905 chr9:9010894-9010903 chr9:9010892-9010903
17	CEBPB	chr9:8910638-8910923	IMR90	lung:	n/a	n/a
18	CEBPB	chr9:8945985-8946238	HepG2	liver:	n/a	chr9:8946106-8946117
19	CEBPB	chr9:8961188-8961617	HepG2	liver:	n/a	n/a
20	CEBPB	chr9:8990176-8990287	H1-hESC	embryonic stem cell:	n/a	chr9:8990232-8990245 chr9:8990232-8990243
21	CEBPB	chr9:9010710-9011045	IMR90	lung:	n/a	chr9:9010892-9010905 chr9:9010894-9010903 chr9:9010892-9010903
22	CEBPB	chr9:9014242-9014411	IMR90	lung:	n/a	n/a
23	CEBPB	chr9:8996279-8996542	HepG2	liver:	n/a	n/a
24	CEBPB	chr9:8961184-8961759	HepG2	liver:	n/a	n/a
25	CEBPB	chr9:8990077-8990402	HepG2	liver:	n/a	chr9:8990232-8990245 chr9:8990232-8990243
26	CEBPB	chr9:8992944-8993144	HepG2	liver:	n/a	n/a
27	CEBPB	chr9:8987639-8987844	H1-hESC	embryonic stem cell:	n/a	chr9:8987749-8987758 chr9:8987747-8987758 chr9:8987747-8987760
28	CEBPB	chr9:8961081-8961810	HepG2	liver:	n/a	n/a
29	CEBPZ	chr9:8999135-8999217	HepG2	liver:	n/a	n/a
30	CHD2	chr9:8937553-8937554	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr9:9003320-9003470	AG09309	skin:	n/a	chr9:9003381-9003394 chr9:9003374-9003395 chr9:9003379-9003397
32	CTCF	chr9:8978380-8978530	GM12865	blood:	n/a	n/a
33	CTCF	chr9:9003240-9003390	HEEpiC	esophagus:	n/a	n/a
34	CTCF	chr9:9004960-9005110	HEK293	kidney:	n/a	chr9:9005052-9005060
35	CTCF	chr9:8978460-8978610	GM12873	blood:	n/a	n/a
36	CTCF	chr9:9004920-9005070	WERI-Rb-1	eye:	n/a	chr9:9005052-9005060
37	CTCF	chr9:8978472-8978586	GM12878	blood:	n/a	n/a
38	CTCF	chr9:8978460-8978610	NB4	blood:	n/a	n/a
39	CTCF	chr9:9004940-9005090	HRPEpiC	eye:	n/a	chr9:9005052-9005060
40	CTCF	chr9:8919660-8919810	AG04449	skin:	n/a	n/a
41	CTCF	chr9:8978503-8978612	GM19238	blood:	n/a	n/a
42	CTCF	chr9:9003297-9003453	Gliobla	brain:	n/a	chr9:9003381-9003394 chr9:9003374-9003395 chr9:9003379-9003397
43	CTCF	chr9:8918420-8918570	HEK293	kidney:	n/a	n/a
44	CTCF	chr9:9016080-9016230	GM12867	blood:	n/a	n/a
45	CTCF	chr9:9003280-9003430	WERI-Rb-1	eye:	n/a	chr9:9003381-9003394 chr9:9003374-9003395 chr9:9003379-9003397
46	CTCF	chr9:8978420-8978570	GM06990	blood:	n/a	n/a
47	CTCF	chr9:9004840-9004990	RPTEC	kidney:	n/a	n/a
48	CTCF	chr9:8978543-8978613	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr9:8978420-8978570	GM12864	blood:	n/a	n/a
50	CTCF	chr9:9005000-9005150	Caco-2	colon:	n/a	chr9:9005052-9005060

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KDM4C-9	chr9:8962800-8963077	ENSG00000234021
2	lnc-KDM4C-9	chr9:8936079-8936179	ENSG00000234021
3	lnc-KDM4C-9	chr9:8962124-8962189	ENSG00000234021
4	lnc-KDM4C-9	chr9:8958722-8958848	ENSG00000234021

Variant related genes	Relation type
ENSG00000234021	TF binding region

Extended variants
information (count: 2340 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:2340 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575652194	chr9:8907980-8907981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568744524	chr9:8907982-8907983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116210522	chr9:8908030-8908031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74572245	chr9:8908046-8908047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35852538	chr9:8908060-8908061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528934531	chr9:8908070-8908071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115020757	chr9:8908111-8908112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs367670879	chr9:8908138-8908139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150509445	chr9:8908141-8908142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527865225	chr9:8908150-8908151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75225598	chr9:8908239-8908240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564736412	chr9:8908248-8908249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139439390	chr9:8908259-8908260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550105027	chr9:8908295-8908296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568362069	chr9:8908316-8908317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535988435	chr9:8908320-8908321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs59767117	chr9:8908324-8908325	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs371806355	chr9:8908333-8908334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7022100	chr9:8908370-8908371	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs539215806	chr9:8908431-8908432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149695783	chr9:8908469-8908470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575889473	chr9:8908485-8908486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539973142	chr9:8908486-8908487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536645036	chr9:8908492-8908493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574126588	chr9:8908554-8908555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188068249	chr9:8908555-8908556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78777463	chr9:8908568-8908569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs57781824	chr9:8908584-8908585	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs191473548	chr9:8908587-8908588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7027460	chr9:8913804-8913805	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs183576414	chr9:8913825-8913826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs367641458	chr9:8913828-8913829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532971264	chr9:8913893-8913894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551241419	chr9:8913907-8913908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563494704	chr9:8913913-8913914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187336001	chr9:8913962-8913963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537862230	chr9:8914007-8914008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554238607	chr9:8914014-8914015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531020107	chr9:8914040-8914041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567292212	chr9:8914042-8914043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549494875	chr9:8914062-8914063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534563659	chr9:8914137-8914138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544883171	chr9:8914141-8914142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs151231251	chr9:8914218-8914219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139195526	chr9:8914227-8914228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540361674	chr9:8914239-8914240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143639519	chr9:8914313-8914314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576560872	chr9:8914340-8914341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537374355	chr9:8914364-8914365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555614705	chr9:8914381-8914382	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

Disease	PMID	Source
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	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
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
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
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	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
Pancreatic cancer	21811587	CNVD
Pancreatic ductal adenocarcinoma	19077451	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
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	21215367	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

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8907800-8908200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr9:8907800-8908400	Enhancers	Dnd41	blood
3	chr9:8907800-8908600	Enhancers	HUVEC	blood vessel
4	chr9:8913800-8916800	Enhancers	Brain Angular Gyrus	brain
5	chr9:8913800-8916800	Enhancers	Brain Substantia Nigra	brain
6	chr9:8913800-8918400	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr9:8914400-8914600	Enhancers	Brain Cingulate Gyrus	brain
8	chr9:8914600-8915600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr9:8914800-8916800	Enhancers	Brain Hippocampus Middle	brain
10	chr9:8915200-8915400	Enhancers	Brain Anterior Caudate	brain
11	chr9:8915400-8916400	Weak transcription	Brain Anterior Caudate	brain
12	chr9:8915600-8918200	Enhancers	Brain Cingulate Gyrus	brain
13	chr9:8916400-8916800	Enhancers	Brain Anterior Caudate	brain
14	chr9:8916800-8917200	Weak transcription	Brain Hippocampus Middle	brain
15	chr9:8916800-8917800	Weak transcription	Brain Anterior Caudate	brain
16	chr9:8916800-8917800	Weak transcription	Brain Substantia Nigra	brain
17	chr9:8916800-8918200	Weak transcription	Brain Angular Gyrus	brain
18	chr9:8917000-8918800	Enhancers	Dnd41	blood
19	chr9:8917200-8918400	Enhancers	Brain Hippocampus Middle	brain
20	chr9:8917200-8918400	Enhancers	Fetal Thymus	thymus
21	chr9:8917600-8918200	Enhancers	Primary T cells from cord blood	blood
22	chr9:8917800-8918200	Enhancers	Brain Anterior Caudate	brain
23	chr9:8917800-8918200	Enhancers	Brain Substantia Nigra	brain
24	chr9:8918000-8918200	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr9:8918200-8918400	Enhancers	Brain Angular Gyrus	brain
26	chr9:8923400-8924800	Enhancers	Osteobl	bone
27	chr9:8923600-8924800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr9:8923600-8925200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr9:8923800-8925200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr9:8933400-8934200	Enhancers	Fetal Heart	heart
31	chr9:8937000-8939000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr9:8938600-8939000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:8938600-8939000	Enhancers	Brain Germinal Matrix	brain
34	chr9:8938600-8939000	Enhancers	Brain Hippocampus Middle	brain
35	chr9:8946200-8946800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr9:8946200-8947000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr9:8946400-8947000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:8946400-8947000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr9:8947000-8950200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr9:8947000-8955000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr9:8949400-8949800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr9:8949400-8950000	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr9:8949400-8950400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr9:8949400-8950400	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr9:8950000-8961200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr9:8950400-8954800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr9:8950400-8955200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr9:8954200-8954400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr9:8954400-8955000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr9:8954800-8956000	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links