Variant report

Variant	nsv892687
Chromosome Location	chr9:18303691-18430297
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	ATF2	chr9:18379104-18379511	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr9:18366112-18366540	GM12878	blood:	n/a	n/a
3	ATF3	chr9:18393270-18393654	HCT-116	colon:	n/a	n/a
4	ATF3	chr9:18393238-18393764	HCT-116	colon:	n/a	n/a
5	ATF3	chr9:18393257-18393736	A549	lung:	n/a	n/a
6	BACH1	chr9:18379220-18379436	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL3	chr9:18393172-18393686	A549	lung:	n/a	n/a
8	BCL3	chr9:18393211-18393726	A549	lung:	n/a	n/a
9	BHLHE40	chr9:18366277-18366484	GM12878	blood:	n/a	n/a
10	BRCA1	chr9:18393063-18394411	Hela-S3	cervix:	n/a	n/a
11	BRCA1	chr9:18331838-18332335	Hela-S3	cervix:	n/a	n/a
12	CBX3	chr9:18393227-18393748	HCT-116	colon:	n/a	n/a
13	CCNT2	chr9:18404527-18404747	K562	blood:	n/a	n/a
14	CEBPB	chr9:18371592-18371861	A549	lung:	n/a	chr9:18371712-18371723
15	CEBPB	chr9:18413205-18413242	IMR90	lung:	n/a	n/a
16	CEBPB	chr9:18350992-18351531	HepG2	liver:	n/a	chr9:18351473-18351486
17	CEBPB	chr9:18343705-18344163	IMR90	lung:	n/a	n/a
18	CEBPB	chr9:18429159-18429386	HepG2	liver:	n/a	chr9:18429301-18429312
19	CEBPB	chr9:18351037-18351565	A549	lung:	n/a	chr9:18351473-18351486
20	CEBPB	chr9:18424148-18424384	HepG2	liver:	n/a	chr9:18424300-18424313 chr9:18424302-18424311 chr9:18424301-18424312 chr9:18424300-18424313 chr9:18424300-18424311
21	CEBPB	chr9:18325638-18325889	HepG2	liver:	n/a	chr9:18325794-18325805
22	CEBPB	chr9:18397528-18397763	A549	lung:	n/a	chr9:18397695-18397706
23	CEBPB	chr9:18424122-18424492	IMR90	lung:	n/a	chr9:18424300-18424313 chr9:18424302-18424311 chr9:18424301-18424312 chr9:18424300-18424313 chr9:18424300-18424311
24	CEBPB	chr9:18424116-18424495	HepG2	liver:	n/a	chr9:18424300-18424313 chr9:18424302-18424311 chr9:18424301-18424312 chr9:18424300-18424313 chr9:18424300-18424311
25	CEBPB	chr9:18343879-18344130	HepG2	liver:	n/a	n/a
26	CEBPB	chr9:18358312-18358647	IMR90	lung:	n/a	n/a
27	CEBPB	chr9:18424133-18424479	Hela-S3	cervix:	n/a	chr9:18424300-18424313 chr9:18424302-18424311 chr9:18424301-18424312 chr9:18424300-18424313 chr9:18424300-18424311
28	CEBPB	chr9:18412239-18412301	K562	blood:	n/a	chr9:18412243-18412254
29	CEBPB	chr9:18325636-18325976	HepG2	liver:	n/a	chr9:18325794-18325805
30	CEBPB	chr9:18379166-18379446	A549	lung:	n/a	n/a
31	CEBPB	chr9:18387259-18387416	A549	lung:	n/a	n/a
32	CEBPB	chr9:18397643-18397805	HepG2	liver:	n/a	chr9:18397695-18397706
33	CEBPB	chr9:18331665-18332226	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr9:18371237-18371842	Hela-S3	cervix:	n/a	chr9:18371527-18371539 chr9:18371406-18371417 chr9:18371712-18371723 chr9:18371404-18371417
35	CEBPB	chr9:18429101-18429513	IMR90	lung:	n/a	chr9:18429301-18429312
36	CEBPB	chr9:18424146-18424500	HepG2	liver:	n/a	chr9:18424300-18424313 chr9:18424302-18424311 chr9:18424301-18424312 chr9:18424300-18424313 chr9:18424300-18424311
37	CEBPB	chr9:18325679-18325951	A549	lung:	n/a	chr9:18325794-18325805
38	CEBPB	chr9:18424197-18424398	HepG2	liver:	n/a	chr9:18424300-18424313 chr9:18424302-18424311 chr9:18424301-18424312 chr9:18424300-18424313 chr9:18424300-18424311
39	CEBPB	chr9:18429093-18429510	Hela-S3	cervix:	n/a	chr9:18429301-18429312
40	CEBPB	chr9:18327041-18327515	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr9:18412125-18412427	A549	lung:	n/a	chr9:18412243-18412254
42	CEBPB	chr9:18325717-18325854	H1-hESC	embryonic stem cell:	n/a	chr9:18325794-18325805
43	CEBPB	chr9:18379163-18379474	H1-hESC	embryonic stem cell:	n/a	n/a
44	CEBPB	chr9:18352717-18352840	A549	lung:	n/a	n/a
45	CEBPB	chr9:18393182-18394108	A549	lung:	n/a	chr9:18393520-18393533
46	CEBPB	chr9:18393196-18393705	HCT-116	colon:	n/a	chr9:18393520-18393533
47	CEBPB	chr9:18334993-18335191	HepG2	liver:	n/a	n/a
48	CEBPB	chr9:18393266-18393748	A549	lung:	n/a	chr9:18393520-18393533
49	CEBPB	chr9:18371591-18371841	IMR90	lung:	n/a	chr9:18371712-18371723
50	CEBPB	chr9:18350992-18351288	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:100230633..100231487-chr9:18324433..18324983,2	MCF-7	breast:
2	chr6:29596747..29597490-chr9:18419651..18420547,2	MCF-7	breast:
3	chr10:103812339..103814566-chr9:18385028..18387430,2	MCF-7	breast:
4	chr9:18377972..18379506-chr9:18518837..18521140,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM154A-4	chr9:18352081-18352218	NONHSAT130307
2	lnc-FAM154A-2	chr9:18362081-18362218	XLOC_007653
3	lnc-FAM154A-2	chr9:18360595-18360693	XLOC_007653
4	lnc-FAM154A-4	chr9:18350595-18350693	NONHSAT130307

Variant related genes	Relation type
ENSG00000227167	TF binding region
CPPED1	miRNA target sites
CRAMP1L	miRNA target sites

Extended variants
information (count: 5170 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:5170 , 50 per page) page: 1 2 3 4 5 6 7 ... 104

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12002789	chr9:18303691-18303692	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186445333	chr9:18303749-18303750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531168345	chr9:18303750-18303751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540783106	chr9:18303779-18303780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559512155	chr9:18303826-18303827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142356353	chr9:18303831-18303832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs151239429	chr9:18303836-18303837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561102067	chr9:18303855-18303856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531772530	chr9:18303890-18303891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550484556	chr9:18303907-18303908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572016490	chr9:18303910-18303911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73428946	chr9:18303911-18303912	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs78595156	chr9:18303940-18303941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566285430	chr9:18303962-18303963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535945783	chr9:18303978-18303979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs13285116	chr9:18303980-18303981	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs115334930	chr9:18303981-18303982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12235198	chr9:18303984-18303985	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs73428948	chr9:18304103-18304104	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs78450202	chr9:18304130-18304131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145537526	chr9:18304136-18304137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138159432	chr9:18304183-18304184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111724858	chr9:18304187-18304188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550919419	chr9:18304192-18304193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73428949	chr9:18304241-18304242	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs377632103	chr9:18304245-18304246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72686828	chr9:18304273-18304274	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs542736808	chr9:18304274-18304275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561406839	chr9:18304279-18304280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531733611	chr9:18304296-18304297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189683469	chr9:18304299-18304300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149548573	chr9:18304339-18304340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540724792	chr9:18304389-18304390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182450903	chr9:18304410-18304411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112600180	chr9:18304421-18304422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199691103	chr9:18304425-18304426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147488566	chr9:18304427-18304428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375266608	chr9:18304428-18304429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374747707	chr9:18304429-18304430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562003676	chr9:18304447-18304448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187141904	chr9:18304450-18304451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566127108	chr9:18304478-18304479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73428951	chr9:18304512-18304513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs540569545	chr9:18304546-18304547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547978066	chr9:18304555-18304556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141001775	chr9:18304556-18304557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551244713	chr9:18304572-18304573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553775434	chr9:18304647-18304648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536761469	chr9:18304648-18304649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77501277	chr9:18304658-18304659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
Chronic lymphocytic leukemia	21546498	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	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
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Ovarian cancer	19835627	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:752 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18297200-18305000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:18297800-18303800	Weak transcription	Aorta	Aorta
3	chr9:18297800-18305400	Weak transcription	Fetal Stomach	stomach
4	chr9:18299800-18305200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr9:18302200-18305400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr9:18302800-18305400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr9:18303200-18304200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr9:18303400-18304000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:18303400-18304200	Enhancers	Fetal Kidney	kidney
10	chr9:18303600-18303800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr9:18303600-18305000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr9:18303800-18304000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr9:18303800-18304000	Enhancers	Aorta	Aorta
14	chr9:18304000-18305000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr9:18304000-18305000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr9:18304000-18305000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr9:18304200-18305600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr9:18305000-18305400	Enhancers	Gastric	stomach
19	chr9:18305000-18306000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr9:18305000-18306000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr9:18305000-18306000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:18305000-18306000	Enhancers	H9 Cell Line	embryonic stem cell
23	chr9:18305000-18306000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr9:18305000-18306000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr9:18305000-18306000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr9:18305000-18306000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr9:18305000-18306000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr9:18305200-18305800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr9:18305200-18305800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr9:18305200-18305800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr9:18305200-18306000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr9:18305200-18306000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr9:18305400-18305600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr9:18305400-18305800	Enhancers	Fetal Stomach	stomach
35	chr9:18305400-18306000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr9:18305400-18306000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr9:18305400-18306200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr9:18305400-18315600	Weak transcription	Gastric	stomach
39	chr9:18305600-18306000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr9:18305600-18306000	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr9:18305600-18306000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr9:18305800-18310400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr9:18306000-18309400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr9:18306000-18315200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr9:18306000-18315200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr9:18311400-18312800	Enhancers	Fetal Heart	heart
47	chr9:18312400-18312800	Enhancers	Fetal Lung	lung
48	chr9:18313800-18314800	Enhancers	HUVEC	blood vessel
49	chr9:18314400-18314800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr9:18314400-18314800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links