Variant report

Variant	nsv613946
Chromosome Location	chr9:27179244-27234029
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	chr9:27194446-27194714	GM12878	blood:	n/a	chr9:27194607-27194618
2	BRCA1	chr9:27181370-27181714	Hela-S3	cervix:	n/a	n/a
3	CBX3	chr9:27194266-27194999	HCT-116	colon:	n/a	n/a
4	CBX3	chr9:27193803-27195211	HCT-116	colon:	n/a	n/a
5	CEBPB	chr9:27203351-27203698	K562	blood:	n/a	chr9:27203510-27203519 chr9:27203510-27203519 chr9:27203510-27203519 chr9:27203508-27203519 chr9:27203510-27203519
6	CEBPB	chr9:27194340-27195505	IMR90	lung:	n/a	n/a
7	CEBPB	chr9:27227147-27227727	IMR90	lung:	n/a	chr9:27227337-27227348
8	CEBPB	chr9:27184636-27184875	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr9:27194317-27195157	HCT-116	colon:	n/a	n/a
10	CEBPB	chr9:27183834-27184110	HepG2	liver:	n/a	n/a
11	CEBPB	chr9:27227200-27227514	A549	lung:	n/a	chr9:27227337-27227348
12	CEBPB	chr9:27194367-27194834	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr9:27227230-27227494	K562	blood:	n/a	chr9:27227337-27227348
14	CEBPB	chr9:27183716-27184199	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr9:27194269-27195045	HCT-116	colon:	n/a	n/a
16	CEBPB	chr9:27206129-27206382	HepG2	liver:	n/a	chr9:27206247-27206258 chr9:27206247-27206260
17	CEBPB	chr9:27205273-27205571	IMR90	lung:	n/a	n/a
18	CEBPB	chr9:27183887-27184087	K562	blood:	n/a	n/a
19	CEBPB	chr9:27227195-27227527	HepG2	liver:	n/a	chr9:27227337-27227348
20	CEBPB	chr9:27205299-27205573	HepG2	liver:	n/a	n/a
21	CEBPB	chr9:27183807-27184156	A549	lung:	n/a	n/a
22	CEBPB	chr9:27227150-27227597	Hela-S3	cervix:	n/a	chr9:27227337-27227348
23	CEBPB	chr9:27227180-27227530	K562	blood:	n/a	chr9:27227337-27227348
24	CEBPB	chr9:27181338-27181682	IMR90	lung:	n/a	n/a
25	CEBPB	chr9:27183927-27184064	K562	blood:	n/a	n/a
26	CEBPB	chr9:27198271-27198664	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr9:27181340-27181711	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr9:27183814-27184166	IMR90	lung:	n/a	n/a
29	CEBPB	chr9:27183839-27184160	K562	blood:	n/a	n/a
30	CEBPB	chr9:27205280-27205603	A549	lung:	n/a	n/a
31	CEBPB	chr9:27213771-27214035	IMR90	lung:	n/a	chr9:27213910-27213921 chr9:27213908-27213921 chr9:27213908-27213921
32	CHD2	chr9:27232395-27232413	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr9:27179640-27179790	HUVEC	blood vessel:	n/a	n/a
34	CTCF	chr9:27198300-27198450	HEEpiC	esophagus:	n/a	n/a
35	CTCF	chr9:27198280-27198430	HRE	kidney:	n/a	n/a
36	CTCF	chr9:27198340-27198490	NHEK	skin:	n/a	n/a
37	CTCF	chr9:27203340-27203490	NHEK	skin:	n/a	chr9:27203443-27203456
38	CTCF	chr9:27203423-27203475	K562	blood:	n/a	chr9:27203443-27203456
39	CTCF	chr9:27198330-27198440	GM12891	blood:	n/a	n/a
40	CTCF	chr9:27198243-27198505	IMR90	lung:	n/a	n/a
41	CTCF	chr9:27198318-27198430	GM19238	blood:	n/a	n/a
42	CTCF	chr9:27198329-27198464	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr9:27215920-27216070	AG04450	lung:	n/a	n/a
44	CTCF	chr9:27198260-27198410	HPF	lung:	n/a	n/a
45	CTCF	chr9:27227420-27227570	NB4	blood:	n/a	n/a
46	CTCF	chr9:27203320-27203470	HCPEpiC	choroid plexus:	n/a	chr9:27203443-27203456
47	CTCF	chr9:27198340-27198490	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr9:27203400-27203550	AG04449	skin:	n/a	chr9:27203443-27203456
49	CTCF	chr9:27198336-27198416	HepG2	liver:	n/a	n/a
50	CTCF	chr9:27198320-27198470	AG04450	lung:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IFT74-6	chr9:27210325-27210624	NONHSAT130609

Variant related genes	Relation type
ENSG00000232867	TF binding region
RNA5SP280	TF binding region

Extended variants
information (count: 2802 )
Associated
traits (count: 132 )

Variant overlapped rSNPs/rCNVs (count:2802 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1322052	chr9:27179244-27179245	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567715181	chr9:27179299-27179300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528613010	chr9:27179313-27179314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111594215	chr9:27179329-27179330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146065636	chr9:27179428-27179429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76722203	chr9:27179439-27179440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557809732	chr9:27179470-27179471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541615	chr9:27179530-27179531	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs572119044	chr9:27179540-27179541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140043174	chr9:27179553-27179554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77010446	chr9:27179681-27179682	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188757443	chr9:27179704-27179705	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553507195	chr9:27179745-27179746	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141787342	chr9:27179749-27179750	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149344081	chr9:27179767-27179768	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373137710	chr9:27179793-27179794	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554573135	chr9:27179801-27179802	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545673261	chr9:27179805-27179806	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377067822	chr9:27179808-27179809	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79156841	chr9:27179834-27179835	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371400581	chr9:27179835-27179836	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531233208	chr9:27179855-27179856	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544130766	chr9:27179891-27179892	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181755553	chr9:27179923-27179924	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577106662	chr9:27179933-27179934	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187247620	chr9:27179952-27179953	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373416032	chr9:27180049-27180050	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565217505	chr9:27180071-27180072	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs71510422	chr9:27180134-27180135	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528575879	chr9:27180159-27180160	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190492481	chr9:27180209-27180210	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372703259	chr9:27180217-27180218	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs41272241	chr9:27180228-27180229	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533028014	chr9:27180247-27180248	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371104063	chr9:27180251-27180252	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541217363	chr9:27180257-27180258	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139143068	chr9:27180266-27180267	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559473908	chr9:27180289-27180290	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs180827182	chr9:27180317-27180318	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111637971	chr9:27180335-27180336	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373027386	chr9:27180361-27180362	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200827916	chr9:27180384-27180385	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375476750	chr9:27180389-27180390	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144863798	chr9:27180392-27180393	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376241578	chr9:27180398-27180399	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536961772	chr9:27180427-27180428	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185470630	chr9:27180428-27180429	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368019588	chr9:27180430-27180431	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375366420	chr9:27180445-27180446	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566949886	chr9:27180481-27180482	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:132)

Disease	PMID	Source
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Medulloblastoma	21979893	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
Oral squamous cell carcinoma	17134496	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
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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Hodgkin''s lymphoma	18179710	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21858162	CNVD
Pancreatic cancer	21811587	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
polycythaemia	22829968	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21525872	CNVD
Epilepsy	22083797	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Lung cancer	20668451	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:511 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:27151000-27229200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:27152400-27181600	Weak transcription	Adipose Nuclei	Adipose
3	chr9:27158200-27183600	Weak transcription	Lung	lung
4	chr9:27165400-27198200	Weak transcription	Ovary	ovary
5	chr9:27165400-27219200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr9:27165800-27181600	Weak transcription	Fetal Lung	lung
7	chr9:27166000-27183600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr9:27166200-27192200	Weak transcription	Fetal Stomach	stomach
9	chr9:27166200-27205800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:27166200-27229000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr9:27174800-27183200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:27174800-27183800	Weak transcription	Right Ventricle	heart
13	chr9:27177600-27179600	Weak transcription	Left Ventricle	heart
14	chr9:27178000-27179600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:27178400-27179400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr9:27178400-27180800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr9:27178400-27183600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr9:27178400-27197200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr9:27178800-27179600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr9:27179000-27180000	Enhancers	Osteobl	bone
21	chr9:27179000-27180200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr9:27179000-27182400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr9:27179200-27179800	Enhancers	HUVEC	blood vessel
24	chr9:27179200-27180000	Enhancers	NH-A	brain
25	chr9:27179400-27179800	Enhancers	HSMMtube	muscle
26	chr9:27179400-27180400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr9:27179400-27182400	Enhancers	HSMM	muscle
28	chr9:27179400-27184800	Enhancers	NHEK	skin
29	chr9:27179600-27179800	Enhancers	Left Ventricle	heart
30	chr9:27179600-27179800	Enhancers	Hela-S3	cervix
31	chr9:27179600-27179800	Enhancers	NHLF	lung
32	chr9:27179600-27180000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr9:27179600-27180800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr9:27179600-27184200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr9:27179600-27191800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr9:27179800-27180200	Weak transcription	Left Ventricle	heart
37	chr9:27179800-27181000	Weak transcription	HUVEC	blood vessel
38	chr9:27179800-27182000	Weak transcription	HSMMtube	muscle
39	chr9:27180000-27180800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr9:27180000-27181200	Weak transcription	NHLF	lung
41	chr9:27180000-27181400	Weak transcription	Osteobl	bone
42	chr9:27180000-27183400	Weak transcription	NH-A	brain
43	chr9:27180200-27180400	Enhancers	Left Ventricle	heart
44	chr9:27180200-27180600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr9:27180200-27180800	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr9:27180200-27181400	Weak transcription	Hela-S3	cervix
47	chr9:27180400-27180800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr9:27180400-27183600	Weak transcription	Left Ventricle	heart
49	chr9:27180600-27184600	Enhancers	Muscle Satellite Cultured Cells	--
50	chr9:27180800-27181400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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