Variant report

Variant	esv3453411
Chromosome Location	chr1:158719997-158725858
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	chr1:158722931-158723169	IMR90	lung:	n/a	chr1:158723040-158723051 chr1:158723037-158723054 chr1:158723040-158723053
2	CEBPB	chr1:158722864-158723064	A549	lung:	n/a	chr1:158723040-158723051 chr1:158723037-158723054 chr1:158723040-158723053
3	CEBPB	chr1:158722871-158723208	K562	blood:	n/a	chr1:158723040-158723051 chr1:158723037-158723054 chr1:158723040-158723053
4	CEBPB	chr1:158722945-158723184	H1-hESC	embryonic stem cell:	n/a	chr1:158723040-158723051 chr1:158723037-158723054 chr1:158723040-158723053
5	CEBPB	chr1:158722942-158723176	Hela-S3	cervix:	n/a	chr1:158723040-158723051 chr1:158723037-158723054 chr1:158723040-158723053
6	CEBPB	chr1:158722946-158723214	HepG2	liver:	n/a	chr1:158723040-158723051 chr1:158723037-158723054 chr1:158723040-158723053
7	CTCF	chr1:158722200-158722406	K562	blood:	n/a	n/a
8	CTCF	chr1:158722251-158722361	K562	blood:	n/a	n/a
9	STAT3	chr1:158724571-158724708	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:158723939-158723989	GM12892	blood:	n/a
2	chr1:158725300-158725350	HPAEpiC	pulmonary alveolar:	n/a
3	chr1:158724362-158724412	HCM	heart:	n/a
4	chr1:158724362-158724412	SK-N-MC	brain:	n/a
5	chr1:158724057-158724107	BJ	skin:	n/a
6	chr1:158725300-158725350	K562	blood:	n/a
7	chr1:158723939-158723989	NH-A	brain:	n/a
8	chr1:158724057-158724107	HAEpiC	amniotic membrane:	n/a
9	chr1:158724362-158724412	SAEC	small airway:	n/a
10	chr1:158724362-158724412	H1-hESC	embryonic stem cell:	embryo
11	chr1:158725300-158725350	NH-A	brain:	n/a
12	chr1:158725300-158725350	ovcar-3	ovarian:	n/a
13	chr1:158724057-158724107	HNPCEpiC	eye:	n/a
14	chr1:158724362-158724412	AG04449	skin:	fetal
15	chr1:158724794-158724844	U87	brain:	n/a
16	chr1:158725300-158725350	GM12878	blood:	n/a
17	chr1:158724057-158724107	HL-60	blood:	n/a
18	chr1:158724057-158724107	GM12892	blood:	n/a
19	chr1:158723939-158723989	HEEpiC	esophagus:	n/a
20	chr1:158723939-158723989	PANC-1	pancreas:	n/a
21	chr1:158725300-158725350	HEEpiC	esophagus:	n/a
22	chr1:158724794-158724844	HIPEpiC	eye:	n/a
23	chr1:158725300-158725350	GM12892	blood:	n/a
24	chr1:158724794-158724844	H1-hESC	embryonic stem cell:	embryo
25	chr1:158723939-158723989	HAEpiC	amniotic membrane:	n/a
26	chr1:158724057-158724107	MCF10A-Er-Src	breast:	n/a
27	chr1:158724794-158724844	HCT-116	colon:	n/a
28	chr1:158723939-158723989	K562	blood:	n/a
29	chr1:158724362-158724412	GM12878	blood:	n/a
30	chr1:158724362-158724412	AG09319	gingival:	n/a
31	chr1:158723939-158723989	MCF10A-Er-Src	breast:	n/a
32	chr1:158724794-158724844	HEK293	kidney:	embryo
33	chr1:158725300-158725350	SK-N-SH	brain:	n/a
34	chr1:158724362-158724412	U87	brain:	n/a
35	chr1:158723939-158723989	GM12891	blood:	n/a
36	chr1:158725300-158725350	GM12891	blood:	n/a
37	chr1:158724057-158724107	AG04450	lung:	fetal
38	chr1:158724057-158724107	HEK293	kidney:	embryo
39	chr1:158725300-158725350	SK-N-MC	brain:	n/a
40	chr1:158724057-158724107	HUVEC	blood vessel:	n/a
41	chr1:158724794-158724844	AG09309	skin:	n/a
42	chr1:158723939-158723989	HMEC	breast:	n/a
43	chr1:158725300-158725350	AG10803	skin:	n/a
44	chr1:158724794-158724844	NT2-D1	testis:	n/a
45	chr1:158724794-158724844	HNPCEpiC	eye:	n/a
46	chr1:158724794-158724844	HCF	heart:	n/a
47	chr1:158724794-158724844	MCF-7	breast:	n/a
48	chr1:158724362-158724412	HPAEpiC	pulmonary alveolar:	n/a
49	chr1:158724362-158724412	NT2-D1	testis:	n/a
50	chr1:158723939-158723989	HCT-116	colon:	n/a

Variant related genes	Relation type
OR6K6	TF binding region
OR6K6	CpG island

Extended variants
information (count: 300 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555325730	chr1:158720006-158720007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143836519	chr1:158720010-158720011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113538481	chr1:158720020-158720021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529315182	chr1:158720023-158720024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35455564	chr1:158720032-158720033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199678169	chr1:158720053-158720054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552488715	chr1:158720057-158720058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112546330	chr1:158720058-158720059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185205367	chr1:158720059-158720060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77225491	chr1:158720076-158720077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569551104	chr1:158720081-158720082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189910787	chr1:158720132-158720133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs16840935	chr1:158720140-158720141	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs555423052	chr1:158720156-158720157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567206687	chr1:158720168-158720169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs386635937	chr1:158720187-158720188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs454127	chr1:158720188-158720189	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs57853363	chr1:158720201-158720202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs112676403	chr1:158720236-158720237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs398585	chr1:158720367-158720368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs542693616	chr1:158720417-158720418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369913449	chr1:158720425-158720426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527295810	chr1:158720438-158720439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35177134	chr1:158720455-158720456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182624156	chr1:158720518-158720519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373617524	chr1:158720554-158720555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs58745531	chr1:158720566-158720567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373028845	chr1:158720572-158720573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2779112	chr1:158720576-158720577	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs368346557	chr1:158720664-158720665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs16840940	chr1:158720744-158720745	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs2779113	chr1:158720745-158720746	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs10489843	chr1:158720758-158720759	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs16840945	chr1:158720792-158720793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375227	chr1:158720817-158720818	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs116420509	chr1:158720820-158720821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577871858	chr1:158720827-158720828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551502235	chr1:158720843-158720844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs380955	chr1:158720890-158720891	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs377011286	chr1:158720905-158720906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111372019	chr1:158720920-158720921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549219121	chr1:158720933-158720934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139749282	chr1:158720964-158720965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188380325	chr1:158721010-158721011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531083072	chr1:158721012-158721013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192894639	chr1:158721020-158721021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373310131	chr1:158721021-158721022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538725941	chr1:158721033-158721034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183817947	chr1:158721043-158721044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376249	chr1:158721069-158721070	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:111)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21045282	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158692600-158735200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr1:158721800-158722200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:158722400-158724800	Enhancers	Fetal Heart	heart

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