Variant report

Variant	esv3517470
Chromosome Location	chr6:29365184-29385827
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	CCNT2	chr6:29367740-29367926	K562	blood:	n/a	n/a
2	CEBPB	chr6:29367391-29368095	Hela-S3	cervix:	n/a	chr6:29367948-29367959 chr6:29367948-29367961 chr6:29367950-29367961 chr6:29367948-29367961 chr6:29367948-29367961
3	CEBPB	chr6:29367799-29368123	HepG2	liver:	n/a	chr6:29367948-29367959 chr6:29367948-29367961 chr6:29367950-29367961 chr6:29367948-29367961 chr6:29367948-29367961
4	CEBPB	chr6:29368655-29368953	HepG2	liver:	n/a	chr6:29368822-29368833 chr6:29368769-29368780
5	CEBPB	chr6:29368651-29368971	K562	blood:	n/a	chr6:29368822-29368833 chr6:29368769-29368780
6	CEBPB	chr6:29367824-29368096	K562	blood:	n/a	chr6:29367948-29367959 chr6:29367948-29367961 chr6:29367950-29367961 chr6:29367948-29367961 chr6:29367948-29367961
7	CEBPB	chr6:29367828-29368007	A549	lung:	n/a	chr6:29367948-29367959 chr6:29367948-29367961 chr6:29367950-29367961 chr6:29367948-29367961 chr6:29367948-29367961
8	CEBPB	chr6:29367841-29368078	K562	blood:	n/a	chr6:29367948-29367959 chr6:29367948-29367961 chr6:29367950-29367961 chr6:29367948-29367961 chr6:29367948-29367961
9	CEBPB	chr6:29376661-29376815	HepG2	liver:	n/a	chr6:29376671-29376682
10	CTCF	chr6:29382433-29382840	MCF-7	breast:	n/a	chr6:29382566-29382584 chr6:29382568-29382589
11	CTCF	chr6:29382427-29382787	H1-hESC	embryonic stem cell:	n/a	chr6:29382566-29382584 chr6:29382568-29382589
12	CTCF	chr6:29382460-29382610	NHEK	skin:	n/a	chr6:29382566-29382584 chr6:29382568-29382589
13	CTCF	chr6:29382400-29382550	HepG2	liver:	n/a	n/a
14	CTCF	chr6:29382500-29382650	Caco-2	colon:	n/a	chr6:29382566-29382584 chr6:29382568-29382589
15	CTCF	chr6:29382480-29382630	HBMEC	blood vessel:	n/a	chr6:29382566-29382584 chr6:29382568-29382589
16	CTCF	chr6:29382500-29382650	Hela-S3	cervix:	n/a	chr6:29382566-29382584 chr6:29382568-29382589
17	CTCF	chr6:29382515-29382633	Gliobla	brain:	n/a	chr6:29382566-29382584 chr6:29382568-29382589
18	CTCF	chr6:29382499-29382673	Medullo	brain:	n/a	chr6:29382566-29382584 chr6:29382568-29382589
19	CTCF	chr6:29382460-29382610	WERI-Rb-1	eye:	n/a	chr6:29382566-29382584 chr6:29382568-29382589
20	CTCF	chr6:29382520-29382670	AG09319	gingival:	n/a	chr6:29382566-29382584 chr6:29382568-29382589
21	CTCF	chr6:29382520-29382670	HAc	cerebellar:	n/a	chr6:29382566-29382584 chr6:29382568-29382589
22	CTCF	chr6:29382440-29382590	BE2_C	brain:	n/a	chr6:29382566-29382584 chr6:29382568-29382589
23	CTCF	chr6:29382474-29382661	LNCaP	prostate:	n/a	chr6:29382566-29382584 chr6:29382568-29382589
24	CTCF	chr6:29382560-29382710	HA-sp	spinal cord:	n/a	chr6:29382566-29382584 chr6:29382568-29382589
25	CTCF	chr6:29382463-29382681	MCF-7	breast:	n/a	chr6:29382566-29382584 chr6:29382568-29382589
26	CTCF	chr6:29382326-29382864	HCT-116	colon:	n/a	chr6:29382566-29382584 chr6:29382568-29382589
27	CTCF	chr6:29382471-29382687	GM12878	blood:	n/a	chr6:29382566-29382584 chr6:29382568-29382589
28	CTCF	chr6:29382600-29382750	HRPEpiC	eye:	n/a	n/a
29	CTCF	chr6:29382480-29382630	NHEK	skin:	n/a	chr6:29382566-29382584 chr6:29382568-29382589
30	CTCF	chr6:29382560-29382710	HEK293	kidney:	n/a	chr6:29382566-29382584 chr6:29382568-29382589
31	CTCF	chr6:29382520-29382670	K562	blood:	n/a	chr6:29382566-29382584 chr6:29382568-29382589
32	CTCF	chr6:29382488-29382627	NHEK	skin:	n/a	chr6:29382566-29382584 chr6:29382568-29382589
33	CTCF	chr6:29382427-29382727	K562	blood:	n/a	chr6:29382566-29382584 chr6:29382568-29382589
34	CTCF	chr6:29382440-29382590	MCF-7	breast:	n/a	chr6:29382566-29382584 chr6:29382568-29382589
35	CTCF	chr6:29382462-29382671	HepG2	liver:	n/a	chr6:29382566-29382584 chr6:29382568-29382589
36	CTCF	chr6:29382520-29382670	HRPEpiC	eye:	n/a	chr6:29382566-29382584 chr6:29382568-29382589
37	CTCF	chr6:29382460-29382610	SK-N-SH_RA	brain:	n/a	chr6:29382566-29382584 chr6:29382568-29382589
38	CTCF	chr6:29382520-29382670	HCT-116	colon:	n/a	chr6:29382566-29382584 chr6:29382568-29382589
39	CTCF	chr6:29382482-29382642	Hela-S3	cervix:	n/a	chr6:29382566-29382584 chr6:29382568-29382589
40	CTCF	chr6:29382501-29382649	Pancreas_OC	pancreas:	n/a	chr6:29382566-29382584 chr6:29382568-29382589
41	CTCF	chr6:29382480-29382630	MCF-7	breast:	n/a	chr6:29382566-29382584 chr6:29382568-29382589
42	CTCF	chr6:29382500-29382650	RPTEC	kidney:	n/a	chr6:29382566-29382584 chr6:29382568-29382589
43	CTCF	chr6:29382514-29382627	Kidney_OC	kidney:	n/a	chr6:29382566-29382584 chr6:29382568-29382589
44	CTCF	chr6:29382520-29382670	HEEpiC	esophagus:	n/a	chr6:29382566-29382584 chr6:29382568-29382589
45	CTCF	chr6:29382480-29382630	SAEC	small airway:	n/a	chr6:29382566-29382584 chr6:29382568-29382589
46	CTCF	chr6:29382500-29382650	HCT-116	colon:	n/a	chr6:29382566-29382584 chr6:29382568-29382589
47	CTCF	chr6:29382510-29382621	HepG2	liver:	n/a	chr6:29382566-29382584 chr6:29382568-29382589
48	CTCF	chr6:29382420-29382570	RPTEC	kidney:	n/a	n/a
49	CTCF	chr6:29382630-29382633	Kidney_OC	kidney:	n/a	n/a
50	CTCF	chr6:29377563-29377601	GM20000	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29365287-29365337	HCF	heart:	n/a
2	chr6:29365287-29365337	HCF	heart:	n/a
3	chr6:29365261-29365311	HL-60	blood:	n/a
4	chr6:29365287-29365337	Caco-2	colon:	n/a
5	chr6:29365287-29365337	ovcar-3	ovarian:	n/a
6	chr6:29365287-29365337	BE2_C	brain:	n/a
7	chr6:29365261-29365311	HRE	kidney:	n/a
8	chr6:29365261-29365311	Caco-2	colon:	n/a
9	chr6:29365287-29365337	Hepatocyte	liver:	n/a
10	chr6:29365261-29365311	NB4	blood:	n/a
11	chr6:29365261-29365311	HRCEpiC	kidney:	n/a
12	chr6:29365261-29365311	T-47D	breast:	n/a
13	chr6:29365287-29365337	HCPEpiC	choroid plexus:	n/a
14	chr6:29365261-29365311	HCF	heart:	n/a
15	chr6:29365287-29365337	HPAEpiC	pulmonary alveolar:	n/a
16	chr6:29365287-29365337	HRE	kidney:	n/a
17	chr6:29365287-29365337	HCM	heart:	n/a
18	chr6:29365287-29365337	MCF-7	breast:	n/a
19	chr6:29365261-29365311	ECC-1	luminal epithelium:	n/a
20	chr6:29365287-29365337	AoSMC	blood vessel:	n/a
21	chr6:29365261-29365311	IMR90	lung:	fetal
22	chr6:29365287-29365337	K562	blood:	n/a
23	chr6:29365261-29365311	RPTEC	kidney:	n/a
24	chr6:29365261-29365311	MCF10A-Er-Src	breast:	n/a
25	chr6:29365287-29365337	AG09309	skin:	n/a
26	chr6:29365287-29365337	PrEC	prostate:	n/a
27	chr6:29365261-29365311	GM12878	blood:	n/a
28	chr6:29365287-29365337	ECC-1	luminal epithelium:	n/a
29	chr6:29365261-29365311	PANC-1	pancreas:	n/a
30	chr6:29365261-29365311	ProgFib	skin:	n/a
31	chr6:29365261-29365311	SAEC	small airway:	n/a
32	chr6:29365261-29365311	HCM	heart:	n/a
33	chr6:29365261-29365311	BE2_C	brain:	n/a
34	chr6:29365287-29365337	CMK	blood:	n/a
35	chr6:29365261-29365311	BJ	skin:	n/a
36	chr6:29365261-29365311	NH-A	brain:	n/a
37	chr6:29365287-29365337	AG04450	lung:	fetal
38	chr6:29365287-29365337	IMR90	lung:	fetal
39	chr6:29365261-29365311	Hepatocyte	liver:	n/a
40	chr6:29365261-29365311	HCPEpiC	choroid plexus:	n/a
41	chr6:29365261-29365311	GM06990	blood:	n/a
42	chr6:29365287-29365337	PANC-1	pancreas:	n/a
43	chr6:29365261-29365311	Hela-S3	cervix:	n/a
44	chr6:29365287-29365337	HAEpiC	amniotic membrane:	n/a
45	chr6:29365287-29365337	HUVEC	blood vessel:	n/a
46	chr6:29365287-29365337	NT2-D1	testis:	n/a
47	chr6:29365261-29365311	HIPEpiC	eye:	n/a
48	chr6:29365287-29365337	GM06990	blood:	n/a
49	chr6:29365261-29365311	SK-N-SH	brain:	n/a
50	chr6:29365287-29365337	MCF10A-Er-Src	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:29376659..29379322-chr6:29394557..29397459,3	K562	blood:
2	chr2:189553470..189554187-chr6:29381441..29382421,2	MCF-7	breast:
3	chr6:29382100..29382616-chr6:29556898..29557418,2	MCF-7	breast:
4	chr6:29382118..29383047-chr6:29556881..29557810,6	MCF-7	breast:

Variant related genes	Relation type
OR12D1	TF binding region
OR12D1	CpG island
ENSG00000204694	chromatin interactions

Extended variants
information (count: 277 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:277 , 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	rs528647518	chr6:29376679-29376680	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs181755156	chr6:29376755-29376756	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs186228395	chr6:29376762-29376763	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs560571291	chr6:29376814-29376815	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs376160193	chr6:29376833-29376834	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs150456520	chr6:29376872-29376873	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs138304344	chr6:29376914-29376915	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs386698367	chr6:29376939-29376940	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs115937906	chr6:29376941-29376942	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs573015992	chr6:29376989-29376990	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs566226879	chr6:29376999-29377000	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs116291089	chr6:29377003-29377004	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs190690732	chr6:29377030-29377031	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs149222043	chr6:29377047-29377048	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs73747309	chr6:29377060-29377061	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs1592407	chr6:29377066-29377067	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs117896961	chr6:29377093-29377094	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs543362973	chr6:29377116-29377117	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs117472007	chr6:29377183-29377184	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs114594078	chr6:29377189-29377190	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs569184770	chr6:29377209-29377210	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs565040423	chr6:29377253-29377254	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs375025433	chr6:29377254-29377255	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs3128848	chr6:29377296-29377297	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs371511582	chr6:29377355-29377356	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs370522921	chr6:29377356-29377357	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs534092912	chr6:29377357-29377358	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs145209118	chr6:29377358-29377359	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs535819563	chr6:29377359-29377360	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs375734333	chr6:29377362-29377363	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs377449631	chr6:29377364-29377365	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs1592406	chr6:29377375-29377376	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs113674205	chr6:29377383-29377384	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs376684913	chr6:29377384-29377385	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs557460987	chr6:29377405-29377406	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs574109327	chr6:29377437-29377438	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs543025214	chr6:29377438-29377439	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs186488691	chr6:29377454-29377455	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs573457527	chr6:29377462-29377463	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs545638772	chr6:29377509-29377510	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs574143020	chr6:29377558-29377559	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs115433235	chr6:29377594-29377595	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs563175789	chr6:29377614-29377615	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs142384897	chr6:29377651-29377652	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs144673563	chr6:29377749-29377750	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs191275757	chr6:29377824-29377825	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs566416394	chr6:29377887-29377888	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs182648901	chr6:29377894-29377895	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs141851813	chr6:29377975-29377976	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs202041861	chr6:29378016-29378017	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD
Melanoma	17363583	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29381400-29381600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:29381600-29386600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:29385200-29385600	Enhancers	Pancreas	Pancrea

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