Variant report

Variant	nsv892684
Chromosome Location	chr9:18261485-18401585
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	chr9:18393257-18393736	A549	lung:	n/a	n/a
5	ATF3	chr9:18393238-18393764	HCT-116	colon:	n/a	n/a
6	BACH1	chr9:18379220-18379436	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL3	chr9:18393211-18393726	A549	lung:	n/a	n/a
8	BCL3	chr9:18393172-18393686	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	CEBPB	chr9:18371237-18371842	Hela-S3	cervix:	n/a	chr9:18371527-18371539 chr9:18371406-18371417 chr9:18371712-18371723 chr9:18371404-18371417
14	CEBPB	chr9:18379163-18379474	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr9:18393265-18393921	IMR90	lung:	n/a	chr9:18393520-18393533
16	CEBPB	chr9:18325638-18325889	HepG2	liver:	n/a	chr9:18325794-18325805
17	CEBPB	chr9:18295935-18296021	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr9:18325636-18325976	HepG2	liver:	n/a	chr9:18325794-18325805
19	CEBPB	chr9:18397528-18397763	A549	lung:	n/a	chr9:18397695-18397706
20	CEBPB	chr9:18358312-18358647	IMR90	lung:	n/a	n/a
21	CEBPB	chr9:18393182-18394108	A549	lung:	n/a	chr9:18393520-18393533
22	CEBPB	chr9:18262515-18262577	Hela-S3	cervix:	n/a	chr9:18262548-18262561
23	CEBPB	chr9:18350992-18351288	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr9:18393196-18393705	HCT-116	colon:	n/a	chr9:18393520-18393533
25	CEBPB	chr9:18379100-18379520	IMR90	lung:	n/a	n/a
26	CEBPB	chr9:18351037-18351565	A549	lung:	n/a	chr9:18351473-18351486
27	CEBPB	chr9:18387259-18387416	A549	lung:	n/a	n/a
28	CEBPB	chr9:18261193-18261541	Hela-S3	cervix:	n/a	chr9:18261358-18261367 chr9:18261356-18261367 chr9:18261356-18261369 chr9:18261356-18261369 chr9:18261357-18261368
29	CEBPB	chr9:18393291-18393716	A549	lung:	n/a	chr9:18393520-18393533
30	CEBPB	chr9:18393183-18394289	Hela-S3	cervix:	n/a	chr9:18393520-18393533
31	CEBPB	chr9:18393266-18393748	A549	lung:	n/a	chr9:18393520-18393533
32	CEBPB	chr9:18334993-18335191	HepG2	liver:	n/a	n/a
33	CEBPB	chr9:18371592-18371861	A549	lung:	n/a	chr9:18371712-18371723
34	CEBPB	chr9:18295912-18296100	A549	lung:	n/a	n/a
35	CEBPB	chr9:18352717-18352840	A549	lung:	n/a	n/a
36	CEBPB	chr9:18379082-18379528	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr9:18325717-18325854	H1-hESC	embryonic stem cell:	n/a	chr9:18325794-18325805
38	CEBPB	chr9:18393319-18393654	ECC-1	luminal epithelium:	n/a	chr9:18393520-18393533
39	CEBPB	chr9:18343705-18344163	IMR90	lung:	n/a	n/a
40	CEBPB	chr9:18261187-18261525	IMR90	lung:	n/a	chr9:18261358-18261367 chr9:18261356-18261367 chr9:18261356-18261369 chr9:18261356-18261369 chr9:18261357-18261368
41	CEBPB	chr9:18350999-18351315	IMR90	lung:	n/a	n/a
42	CEBPB	chr9:18261182-18261512	HepG2	liver:	n/a	chr9:18261358-18261367 chr9:18261356-18261367 chr9:18261356-18261369 chr9:18261356-18261369 chr9:18261357-18261368
43	CEBPB	chr9:18325607-18325969	IMR90	lung:	n/a	chr9:18325794-18325805
44	CEBPB	chr9:18261210-18261508	A549	lung:	n/a	chr9:18261358-18261367 chr9:18261356-18261367 chr9:18261356-18261369 chr9:18261356-18261369 chr9:18261357-18261368
45	CEBPB	chr9:18393231-18393839	HCT-116	colon:	n/a	chr9:18393520-18393533
46	CEBPB	chr9:18325679-18325951	A549	lung:	n/a	chr9:18325794-18325805
47	CEBPB	chr9:18379166-18379446	A549	lung:	n/a	n/a
48	CEBPB	chr9:18350992-18351531	HepG2	liver:	n/a	chr9:18351473-18351486
49	CEBPB	chr9:18397643-18397805	HepG2	liver:	n/a	chr9:18397695-18397706
50	CEBPB	chr9:18327041-18327515	Hela-S3	cervix:	n/a	n/a

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM154A-4	chr9:18350595-18350693	NONHSAT130307
2	lnc-ADAMTSL1-1	chr9:18288533-18288954	NONHSAT130306
3	lnc-ADAMTSL1-1	chr9:18290279-18290518	NONHSAT130306
4	lnc-FAM154A-4	chr9:18352081-18352218	NONHSAT130307
5	lnc-FAM154A-2	chr9:18360595-18360693	XLOC_007653
6	lnc-ADAMTSL1-1	chr9:18283558-18283630	NONHSAT130306
7	lnc-FAM154A-2	chr9:18362081-18362218	XLOC_007653

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

Extended variants
information (count: 6338 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:6338 , 50 per page) page: 1 2 3 4 5 6 7 ... 127

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2809854	chr9:18261485-18261486	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs142288207	chr9:18261515-18261516	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs151218028	chr9:18261519-18261520	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550872139	chr9:18261563-18261564	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139222614	chr9:18261565-18261566	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541035244	chr9:18261605-18261606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187492863	chr9:18261633-18261634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371604878	chr9:18261695-18261696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7039570	chr9:18261699-18261700	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs369479769	chr9:18261750-18261751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548391158	chr9:18261755-18261756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569779402	chr9:18261766-18261767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145233162	chr9:18261771-18261772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7039917	chr9:18261780-18261781	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs571725700	chr9:18261794-18261795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116292051	chr9:18261803-18261804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553773687	chr9:18261820-18261821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563464279	chr9:18261895-18261896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565997680	chr9:18261908-18261909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536580996	chr9:18262001-18262002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555119915	chr9:18262009-18262010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564008561	chr9:18262011-18262012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147602351	chr9:18262017-18262018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546631618	chr9:18262034-18262035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543495748	chr9:18262035-18262036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558328617	chr9:18262126-18262127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs6475207	chr9:18262127-18262128	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs372777917	chr9:18262144-18262145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535604920	chr9:18262146-18262147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs202240518	chr9:18262149-18262150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76450883	chr9:18262162-18262163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559425920	chr9:18262183-18262184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192169336	chr9:18262194-18262195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184608811	chr9:18262225-18262226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7870639	chr9:18262254-18262255	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs187771011	chr9:18262257-18262258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142176295	chr9:18262295-18262296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192174643	chr9:18262311-18262312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532483852	chr9:18262318-18262319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547369069	chr9:18262329-18262330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7870751	chr9:18262332-18262333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536541972	chr9:18262359-18262360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548641266	chr9:18262383-18262384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569366579	chr9:18262386-18262387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145835510	chr9:18262433-18262434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368379382	chr9:18262472-18262473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559127057	chr9:18262480-18262481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576998971	chr9:18262500-18262501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7857032	chr9:18262505-18262506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553001573	chr9:18262519-18262520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:900 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18256800-18265200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr9:18257000-18267200	Weak transcription	NHDF-Ad	bronchial
3	chr9:18260000-18261800	Enhancers	Colon Smooth Muscle	Colon
4	chr9:18260200-18261600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr9:18260200-18261800	Enhancers	HSMM	muscle
6	chr9:18260200-18262400	Enhancers	HMEC	breast
7	chr9:18260400-18261800	Enhancers	Fetal Stomach	stomach
8	chr9:18260800-18261800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr9:18261200-18261600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr9:18261200-18261600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr9:18261200-18261800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr9:18261200-18261800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:18261400-18261800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr9:18261400-18262200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr9:18261400-18262800	Weak transcription	Fetal Lung	lung
16	chr9:18261400-18266800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr9:18261600-18261800	Enhancers	Fetal Muscle Leg	muscle
18	chr9:18261600-18262000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:18261600-18262400	Enhancers	NHEK	skin
20	chr9:18261600-18263000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr9:18261600-18267400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr9:18261800-18262800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr9:18261800-18265000	Weak transcription	Colon Smooth Muscle	Colon
24	chr9:18261800-18266200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:18262200-18267400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr9:18262400-18267400	Weak transcription	HMEC	breast
27	chr9:18262400-18268400	Weak transcription	NHEK	skin
28	chr9:18262800-18263000	Enhancers	Fetal Lung	lung
29	chr9:18262800-18263200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr9:18262800-18263600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr9:18262800-18264000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr9:18263000-18263400	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr9:18263000-18263800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr9:18263000-18264000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr9:18263200-18264200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr9:18264200-18264400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr9:18265000-18265200	Enhancers	Colon Smooth Muscle	Colon
38	chr9:18265200-18266800	Weak transcription	Colon Smooth Muscle	Colon
39	chr9:18265200-18270200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr9:18266200-18269400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr9:18266400-18267200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr9:18266800-18267600	Enhancers	Colon Smooth Muscle	Colon
43	chr9:18266800-18268400	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr9:18267200-18268200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr9:18267200-18268400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr9:18267200-18269000	Enhancers	NHDF-Ad	bronchial
47	chr9:18267200-18269400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr9:18267400-18267800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr9:18267400-18268600	Enhancers	HMEC	breast
50	chr9:18267400-18269400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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