Variant report

Variant	esv3369229
Chromosome Location	chr1:46969115-46973113
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:66)
CpG islands
(count:183)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:66 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:46972101-46972482	K562	blood:	n/a	n/a
2	ARID3A	chr1:46971554-46971754	K562	blood:	n/a	n/a
3	ATF1	chr1:46972163-46972502	K562	blood:	n/a	n/a
4	BHLHE40	chr1:46972228-46972471	K562	blood:	n/a	n/a
5	BHLHE40	chr1:46972740-46972748	K562	blood:	n/a	n/a
6	CBX3	chr1:46972035-46972533	K562	blood:	n/a	n/a
7	CCNT2	chr1:46972122-46972709	K562	blood:	n/a	n/a
8	CEBPB	chr1:46972179-46972269	A549	lung:	n/a	n/a
9	CEBPB	chr1:46972015-46972487	K562	blood:	n/a	n/a
10	CEBPB	chr1:46972035-46972406	K562	blood:	n/a	n/a
11	CEBPB	chr1:46972046-46972370	IMR90	lung:	n/a	n/a
12	CEBPB	chr1:46972124-46972301	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr1:46972078-46972352	K562	blood:	n/a	n/a
14	CEBPD	chr1:46971945-46972883	K562	blood:	n/a	n/a
15	CEBPD	chr1:46972048-46972589	K562	blood:	n/a	n/a
16	CUX1	chr1:46972063-46972506	K562	blood:	n/a	n/a
17	E2F4	chr1:46972148-46972301	MCF10A-Er-Src	breast:	n/a	n/a
18	EGR1	chr1:46972186-46972793	K562	blood:	n/a	n/a
19	EGR1	chr1:46972298-46972628	K562	blood:	n/a	n/a
20	EP300	chr1:46972153-46972500	K562	blood:	n/a	n/a
21	EP300	chr1:46971515-46971781	K562	blood:	n/a	n/a
22	FOS	chr1:46972000-46972422	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr1:46972004-46972389	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr1:46972049-46972358	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr1:46971998-46972415	MCF10A-Er-Src	breast:	n/a	n/a
26	GATA1	chr1:46971929-46972642	K562	blood:	n/a	n/a
27	GATA2	chr1:46972058-46972543	K562	blood:	n/a	n/a
28	HDAC2	chr1:46972224-46972497	K562	blood:	n/a	n/a
29	HMGN3	chr1:46972257-46972459	K562	blood:	n/a	n/a
30	HMGN3	chr1:46972747-46972905	K562	blood:	n/a	n/a
31	IRF1	chr1:46972174-46972480	K562	blood:	n/a	n/a
32	IRF1	chr1:46972212-46972484	K562	blood:	n/a	n/a
33	JUND	chr1:46971521-46971710	K562	blood:	n/a	n/a
34	JUND	chr1:46972115-46972503	K562	blood:	n/a	n/a
35	MAFF	chr1:46972131-46972430	K562	blood:	n/a	n/a
36	MAZ	chr1:46972253-46972634	K562	blood:	n/a	n/a
37	MYC	chr1:46972173-46972558	K562	blood:	n/a	n/a
38	MYC	chr1:46972232-46972477	K562	blood:	n/a	n/a
39	NR2F2	chr1:46972097-46972557	K562	blood:	n/a	n/a
40	NR2F2	chr1:46972036-46972595	K562	blood:	n/a	n/a
41	POLR2A	chr1:46972200-46972473	K562	blood:	n/a	n/a
42	POLR2A	chr1:46972310-46972479	K562	blood:	n/a	n/a
43	RCOR1	chr1:46971475-46971740	K562	blood:	n/a	n/a
44	RCOR1	chr1:46972088-46972608	K562	blood:	n/a	n/a
45	RCOR1	chr1:46972136-46972575	K562	blood:	n/a	n/a
46	RCOR1	chr1:46971543-46971658	K562	blood:	n/a	n/a
47	SRF	chr1:46972284-46972568	K562	blood:	n/a	n/a
48	SRF	chr1:46972226-46972529	K562	blood:	n/a	n/a
49	STAT3	chr1:46972097-46972265	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr1:46972020-46972364	MCF10A-Er-Src	breast:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:46972736-46972786	SAEC	small airway:	n/a
2	chr1:46972183-46972233	Caco-2	colon:	n/a
3	chr1:46972736-46972786	AoSMC	blood vessel:	n/a
4	chr1:46972736-46972786	HCM	heart:	n/a
5	chr1:46972470-46972520	HRE	kidney:	n/a
6	chr1:46972470-46972520	HepG2	liver:	n/a
7	chr1:46972470-46972520	GM19239	blood:	n/a
8	chr1:46972470-46972520	HUVEC	blood vessel:	n/a
9	chr1:46972736-46972786	Hepatocyte	liver:	n/a
10	chr1:46972736-46972786	PANC-1	pancreas:	n/a
11	chr1:46972470-46972520	MCF10A-Er-Src	breast:	n/a
12	chr1:46972470-46972520	HNPCEpiC	eye:	n/a
13	chr1:46972736-46972786	HEEpiC	esophagus:	n/a
14	chr1:46972470-46972520	GM12892	blood:	n/a
15	chr1:46972183-46972233	PANC-1	pancreas:	n/a
16	chr1:46972736-46972786	BJ	skin:	n/a
17	chr1:46972736-46972786	GM12878	blood:	n/a
18	chr1:46972736-46972786	NH-A	brain:	n/a
19	chr1:46972470-46972520	LNCaP	prostate:	n/a
20	chr1:46972470-46972520	H1-hESC	embryonic stem cell:	embryo
21	chr1:46972470-46972520	AG04450	lung:	fetal
22	chr1:46972736-46972786	HEK293	kidney:	embryo
23	chr1:46972183-46972233	LNCaP	prostate:	n/a
24	chr1:46972470-46972520	NHDF-neo	bronchial:	n/a
25	chr1:46972183-46972233	HPAEpiC	pulmonary alveolar:	n/a
26	chr1:46972183-46972233	ECC-1	luminal epithelium:	n/a
27	chr1:46972736-46972786	Caco-2	colon:	n/a
28	chr1:46972736-46972786	MCF-7	breast:	n/a
29	chr1:46972183-46972233	AoSMC	blood vessel:	n/a
30	chr1:46972183-46972233	HRPEpiC	eye:	n/a
31	chr1:46972470-46972520	SK-N-MC	brain:	n/a
32	chr1:46972736-46972786	HL-60	blood:	n/a
33	chr1:46972736-46972786	AG10803	skin:	n/a
34	chr1:46972736-46972786	AG09309	skin:	n/a
35	chr1:46972470-46972520	BE2_C	brain:	n/a
36	chr1:46972183-46972233	HCM	heart:	n/a
37	chr1:46972470-46972520	HEEpiC	esophagus:	n/a
38	chr1:46972736-46972786	GM19239	blood:	n/a
39	chr1:46972470-46972520	SAEC	small airway:	n/a
40	chr1:46972470-46972520	HCT-116	colon:	n/a
41	chr1:46972470-46972520	HRCEpiC	kidney:	n/a
42	chr1:46972470-46972520	NHBE	bronchial:	n/a
43	chr1:46972736-46972786	HAEpiC	amniotic membrane:	n/a
44	chr1:46972183-46972233	AG04450	lung:	fetal
45	chr1:46972183-46972233	HCF	heart:	n/a
46	chr1:46972183-46972233	SK-N-MC	brain:	n/a
47	chr1:46972470-46972520	HIPEpiC	eye:	n/a
48	chr1:46972183-46972233	HCPEpiC	choroid plexus:	n/a
49	chr1:46972470-46972520	RPTEC	kidney:	n/a
50	chr1:46972736-46972786	SK-N-SH	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:46962918..46964501-chr1:46967653..46969211,2	K562	blood:
2	chr1:46960989..46962798-chr1:46967712..46970240,2	K562	blood:
3	chr1:46961899..46964418-chr1:46966041..46969211,3	K562	blood:

No data

Variant related genes	Relation type
DMBX1	TF binding region
DMBX1	CpG island

Extended variants
information (count: 137 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12067566	chr1:46969142-46969143	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567640651	chr1:46969287-46969288	Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs12071150	chr1:46969303-46969304	Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs149171379	chr1:46969422-46969423	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs77283743	chr1:46969423-46969424	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs568257156	chr1:46969477-46969478	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574847065	chr1:46969537-46969538	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12031107	chr1:46969578-46969579	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs12031111	chr1:46969613-46969614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201965734	chr1:46969641-46969642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527911385	chr1:46969652-46969653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552726322	chr1:46969653-46969654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534145955	chr1:46969655-46969656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371340038	chr1:46969657-46969658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187884040	chr1:46969678-46969679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191000411	chr1:46969681-46969682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568528663	chr1:46969686-46969687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74802410	chr1:46969687-46969688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182765985	chr1:46969715-46969716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376200463	chr1:46969766-46969767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566547757	chr1:46969891-46969892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374449607	chr1:46969894-46969895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369671491	chr1:46969943-46969944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558716512	chr1:46969960-46969961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576919797	chr1:46970001-46970002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538149576	chr1:46970004-46970005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556465191	chr1:46970013-46970014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574912208	chr1:46970101-46970102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542225653	chr1:46970104-46970105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560606944	chr1:46970105-46970106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572497562	chr1:46970259-46970260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545929381	chr1:46970297-46970298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35452063	chr1:46970400-46970401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs36074980	chr1:46970428-46970429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564710670	chr1:46970648-46970649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373283193	chr1:46970677-46970678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188088569	chr1:46970716-46970717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61783063	chr1:46970766-46970767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61783064	chr1:46970790-46970791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531777259	chr1:46970865-46970866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200424051	chr1:46970985-46970986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562022920	chr1:46971003-46971004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529675595	chr1:46971020-46971021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs55929143	chr1:46971165-46971166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370276856	chr1:46971189-46971190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376046881	chr1:46971279-46971280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558250569	chr1:46971289-46971290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11803425	chr1:46971342-46971343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs61783065	chr1:46971369-46971370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570644829	chr1:46971372-46971373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Neuroblastoma	21899760	CNVD
Uveal melanoma	20484589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Glioblastoma	20031968	CNVD
Leukemia	18688285	CNVD
Rett syndrome	21593744	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46966800-46969200	Weak transcription	K562	blood
2	chr1:46969200-46969400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:46969200-46969600	Bivalent Enhancer	Right Atrium	heart
4	chr1:46969200-46969600	Enhancers	K562	blood
5	chr1:46969400-46972600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:46969600-46971400	Weak transcription	K562	blood
7	chr1:46969600-46972600	Weak transcription	Right Atrium	heart
8	chr1:46971400-46975600	Enhancers	K562	blood
9	chr1:46972200-46973200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:46972200-46973200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:46972600-46972800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
12	chr1:46972600-46972800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr1:46972600-46972800	Strong transcription	Right Atrium	heart
14	chr1:46972600-46973000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr1:46972600-46973000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:46972600-46973000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:46972600-46973200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:46972600-46973200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
19	chr1:46972600-46973400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:46972600-46974000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:46972600-46974200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:46972800-46973200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
23	chr1:46972800-46973200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr1:46972800-46974000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr1:46972800-46986000	Weak transcription	Right Atrium	heart
26	chr1:46973000-46974000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:46973000-46977200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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