Variant report

Variant	nsv933776
Chromosome Location	chr6:65598694-65760189
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	chr6:65716700-65717039	HepG2	liver:	n/a	chr6:65716874-65716885
2	CEBPB	chr6:65755738-65756070	IMR90	lung:	n/a	chr6:65755859-65755870 chr6:65755888-65755899
3	CEBPB	chr6:65623864-65624542	MCF-7	breast:	n/a	chr6:65624191-65624204
4	CEBPB	chr6:65613037-65613385	HepG2	liver:	n/a	chr6:65613217-65613226 chr6:65613217-65613228 chr6:65613215-65613228
5	CEBPB	chr6:65681969-65682239	HepG2	liver:	n/a	chr6:65682126-65682137 chr6:65682100-65682111
6	CEBPB	chr6:65655361-65655722	A549	lung:	n/a	n/a
7	CEBPB	chr6:65678779-65679145	HepG2	liver:	n/a	chr6:65678958-65678969 chr6:65678960-65678971
8	CEBPB	chr6:65675810-65676027	HepG2	liver:	n/a	chr6:65675924-65675933
9	CEBPB	chr6:65678779-65679107	IMR90	lung:	n/a	chr6:65678958-65678969 chr6:65678960-65678971
10	CEBPB	chr6:65675769-65676009	A549	lung:	n/a	chr6:65675924-65675933
11	CEBPB	chr6:65755702-65756077	Hela-S3	cervix:	n/a	chr6:65755859-65755870 chr6:65755888-65755899
12	CEBPB	chr6:65600382-65600740	MCF-7	breast:	n/a	n/a
13	CEBPB	chr6:65755777-65756072	A549	lung:	n/a	chr6:65755859-65755870 chr6:65755888-65755899
14	CEBPB	chr6:65655435-65655701	K562	blood:	n/a	n/a
15	CEBPB	chr6:65694902-65695171	H1-hESC	embryonic stem cell:	n/a	chr6:65695020-65695031
16	CEBPB	chr6:65687931-65688253	HepG2	liver:	n/a	chr6:65688100-65688111
17	CEBPB	chr6:65694879-65695194	HepG2	liver:	n/a	chr6:65695020-65695031
18	CEBPB	chr6:65600236-65601065	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr6:65714814-65714999	A549	lung:	n/a	chr6:65714880-65714891
20	CEBPB	chr6:65757460-65757715	HepG2	liver:	n/a	chr6:65757602-65757613
21	CEBPB	chr6:65675819-65675920	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr6:65714828-65715032	HepG2	liver:	n/a	chr6:65714880-65714891
23	CEBPB	chr6:65694841-65695250	Hela-S3	cervix:	n/a	chr6:65695020-65695031
24	CEBPB	chr6:65623734-65624686	Hela-S3	cervix:	n/a	chr6:65624191-65624204
25	CEBPB	chr6:65625912-65626201	HepG2	liver:	n/a	chr6:65626064-65626077 chr6:65626064-65626075 chr6:65626064-65626077 chr6:65626066-65626077
26	CEBPB	chr6:65688032-65688232	A549	lung:	n/a	chr6:65688100-65688111
27	CEBPB	chr6:65655365-65655724	HepG2	liver:	n/a	n/a
28	CEBPB	chr6:65675755-65676074	IMR90	lung:	n/a	chr6:65675924-65675933
29	CEBPB	chr6:65678825-65679127	H1-hESC	embryonic stem cell:	n/a	chr6:65678958-65678969 chr6:65678960-65678971
30	CEBPB	chr6:65655382-65655691	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr6:65755724-65756051	K562	blood:	n/a	chr6:65755859-65755870 chr6:65755888-65755899
32	CEBPB	chr6:65624048-65624422	MCF-7	breast:	n/a	chr6:65624191-65624204
33	CEBPB	chr6:65716699-65717038	H1-hESC	embryonic stem cell:	n/a	chr6:65716874-65716885
34	CEBPB	chr6:65678799-65679086	A549	lung:	n/a	chr6:65678958-65678969 chr6:65678960-65678971
35	CEBPB	chr6:65755716-65756078	HepG2	liver:	n/a	chr6:65755859-65755870 chr6:65755888-65755899
36	CEBPB	chr6:65655359-65655621	MCF-7	breast:	n/a	n/a
37	CEBPB	chr6:65655355-65655724	IMR90	lung:	n/a	n/a
38	CEBPB	chr6:65655287-65655751	MCF-7	breast:	n/a	n/a
39	CEBPB	chr6:65675891-65675987	Hela-S3	cervix:	n/a	chr6:65675924-65675933
40	CEBPB	chr6:65655375-65655700	Hela-S3	cervix:	n/a	n/a
41	CHD2	chr6:65673398-65673482	HepG2	liver:	n/a	n/a
42	CHD2	chr6:65740417-65740502	HepG2	liver:	n/a	n/a
43	CTCF	chr6:65723598-65723621	GM19238	blood:	n/a	n/a
44	CTCF	chr6:65723540-65723690	GM12864	blood:	n/a	n/a
45	CTCF	chr6:65723560-65723710	GM12873	blood:	n/a	n/a
46	CTCF	chr6:65647300-65647450	AG10803	skin:	n/a	n/a
47	CTCF	chr6:65723540-65723690	GM12872	blood:	n/a	n/a
48	CTCF	chr6:65695700-65695850	BE2_C	brain:	n/a	n/a
49	CTCF	chr6:65723540-65723690	HEK293	kidney:	n/a	n/a
50	CTCF	chr6:65695720-65695870	HBMEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:65639435..65641072-chr6:65642848..65644357,2	MCF-7	breast:
2	chr6:65644339..65646278-chr6:65650850..65653473,2	K562	blood:
3	chr6:65644339..65646278-chr6:65650850..65653473,2	K562	blood:
4	chr11:62312608..62314638-chr6:65744579..65746564,2	MCF-7	breast:
5	chr6:65695796..65698770-chr6:65700016..65702026,2	K562	blood:
6	chr6:65595975..65598086-chr6:65600070..65602994,2	K562	blood:
7	chr6:65695796..65698770-chr6:65700016..65702026,2	K562	blood:
8	chr6:65639435..65641072-chr6:65642848..65644357,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256352	TF binding region
ENSG00000221312	TF binding region
ENSG00000257058	chromatin interactions
ENSG00000124942	chromatin interactions

Extended variants
information (count: 3121 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:3121 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570922087	chr6:65598713-65598714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12663170	chr6:65598755-65598756	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs112893081	chr6:65598804-65598805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565504695	chr6:65598918-65598919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527893301	chr6:65598932-65598933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541702914	chr6:65598950-65598951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9363293	chr6:65598972-65598973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs528889669	chr6:65598981-65598982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138559194	chr6:65599101-65599102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549039700	chr6:65599102-65599103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4368794	chr6:65599134-65599135	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs9342449	chr6:65599135-65599136	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs571386948	chr6:65599142-65599143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9453098	chr6:65599148-65599149	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs572649649	chr6:65599170-65599171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553603605	chr6:65599171-65599172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567273190	chr6:65599176-65599177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540019403	chr6:65599180-65599181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558106163	chr6:65599247-65599248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556557989	chr6:65599260-65599261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9345568	chr6:65599298-65599299	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs140308960	chr6:65599304-65599305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558790688	chr6:65599305-65599306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572623388	chr6:65599348-65599349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541690401	chr6:65599360-65599361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561556649	chr6:65599385-65599386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575244129	chr6:65599395-65599396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184121001	chr6:65599425-65599426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145239116	chr6:65599426-65599427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs137897861	chr6:65599460-65599461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543932033	chr6:65599472-65599473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142228510	chr6:65599573-65599574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574063344	chr6:65599580-65599581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527480362	chr6:65599608-65599609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150473307	chr6:65599612-65599613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186779599	chr6:65599619-65599620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367963114	chr6:65599624-65599625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536171031	chr6:65599656-65599657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541470906	chr6:65599665-65599666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35804967	chr6:65599666-65599667	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs9363294	chr6:65599740-65599741	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs144342972	chr6:65599766-65599767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552340539	chr6:65599783-65599784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559003420	chr6:65599800-65599801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs58470972	chr6:65599804-65599805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535215179	chr6:65599821-65599822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555228596	chr6:65599934-65599935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34714707	chr6:65599938-65599939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs70999175	chr6:65599939-65599940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369686838	chr6:65599940-65599941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65598200-65600200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr6:65599200-65599800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr6:65599400-65599600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr6:65599600-65600000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr6:65599600-65600600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr6:65599800-65600600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:65600000-65600400	Enhancers	HUVEC	blood vessel
8	chr6:65600000-65600600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr6:65600200-65600600	Active TSS	Hela-S3	cervix
10	chr6:65600200-65601600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr6:65600200-65601800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:65600200-65603800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr6:65600400-65601000	Active TSS	NH-A	brain
14	chr6:65600400-65601600	Flanking Active TSS	HUVEC	blood vessel
15	chr6:65600600-65601200	Enhancers	Hela-S3	cervix
16	chr6:65600600-65601600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr6:65600600-65601600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr6:65600600-65601600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr6:65600600-65604200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr6:65600800-65601400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:65601000-65601400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:65601000-65601600	Enhancers	NH-A	brain
23	chr6:65601200-65601600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr6:65601200-65601600	Flanking Active TSS	Hela-S3	cervix
25	chr6:65601600-65602600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr6:65601600-65602600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr6:65601600-65602800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:65601600-65602800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr6:65601600-65602800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr6:65601600-65603000	Enhancers	HUVEC	blood vessel
31	chr6:65601800-65602200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr6:65602200-65603800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr6:65602600-65603200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr6:65602600-65603400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr6:65602800-65603200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr6:65602800-65603400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr6:65603000-65603200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr6:65612200-65613400	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr6:65612600-65613400	Enhancers	Fetal Brain Female	brain
40	chr6:65613200-65613600	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr6:65614000-65614600	Enhancers	HUVEC	blood vessel
42	chr6:65614200-65615400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr6:65614600-65615000	Flanking Active TSS	HUVEC	blood vessel
44	chr6:65615000-65615600	Enhancers	HUVEC	blood vessel
45	chr6:65621200-65622000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr6:65623600-65624400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr6:65623800-65624200	Enhancers	Hela-S3	cervix
48	chr6:65626000-65626800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:65626200-65626600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr6:65631800-65632200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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