Variant report

Variant	esv1815450
Chromosome Location	chr1:246676039-246687763
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	CBX3	chr1:246678327-246679192	K562	blood:	n/a	n/a
2	CBX3	chr1:246678364-246679339	K562	blood:	n/a	n/a
3	CBX3	chr1:246678484-246679166	HCT-116	colon:	n/a	n/a
4	CBX3	chr1:246678506-246679153	HCT-116	colon:	n/a	n/a
5	CTCF	chr1:246683706-246683740	GM10266	blood:	n/a	n/a
6	CTCF	chr1:246685009-246685072	LNCaP	prostate:	n/a	n/a
7	E2F6	chr1:246675979-246676333	K562	blood:	n/a	chr1:246676107-246676119 chr1:246676111-246676118 chr1:246676111-246676118 chr1:246676111-246676118
8	EBF1	chr1:246677399-246677568	GM12878	blood:	n/a	chr1:246677450-246677461
9	FOSL2	chr1:246677728-246677984	HepG2	liver:	n/a	n/a
10	IRF1	chr1:246677721-246677918	K562	blood:	n/a	chr1:246677859-246677873 chr1:246677821-246677835 chr1:246677826-246677837 chr1:246677823-246677837 chr1:246677826-246677838 chr1:246677825-246677839 chr1:246677819-246677839 chr1:246677815-246677836 chr1:246677862-246677875 chr1:246677825-246677836 chr1:246677861-246677872 chr1:246677821-246677838 chr1:246677824-246677838
11	IRF1	chr1:246677677-246677979	K562	blood:	n/a	chr1:246677859-246677873 chr1:246677821-246677835 chr1:246677826-246677837 chr1:246677823-246677837 chr1:246677826-246677838 chr1:246677825-246677839 chr1:246677819-246677839 chr1:246677815-246677836 chr1:246677862-246677875 chr1:246677825-246677836 chr1:246677861-246677872 chr1:246677821-246677838 chr1:246677824-246677838
12	IRF1	chr1:246677645-246678002	K562	blood:	n/a	chr1:246677859-246677873 chr1:246677821-246677835 chr1:246677826-246677837 chr1:246677823-246677837 chr1:246677826-246677838 chr1:246677825-246677839 chr1:246677819-246677839 chr1:246677815-246677836 chr1:246677862-246677875 chr1:246677825-246677836 chr1:246677861-246677872 chr1:246677821-246677838 chr1:246677824-246677838
13	JUN	chr1:246678757-246679003	K562	blood:	n/a	n/a
14	KAP1	chr1:246678618-246679071	U2OS	brain:	n/a	n/a
15	KAP1	chr1:246678300-246679429	K562	blood:	n/a	n/a
16	MAX	chr1:246675989-246676486	K562	blood:	n/a	chr1:246676302-246676312
17	MAX	chr1:246676168-246676452	HepG2	liver:	n/a	chr1:246676302-246676312
18	MAX	chr1:246676269-246676312	NB4	blood:	n/a	chr1:246676302-246676312
19	MYC	chr1:246678796-246678914	K562	blood:	n/a	n/a
20	POU2F2	chr1:246678786-246679079	GM12878	blood:	n/a	n/a
21	POU2F2	chr1:246678805-246678941	GM12878	blood:	n/a	n/a
22	RCOR1	chr1:246678483-246679279	IMR90	lung:	n/a	n/a
23	SETDB1	chr1:246679814-246680908	K562	blood:	n/a	n/a
24	SETDB1	chr1:246678377-246679115	K562	blood:	n/a	n/a
25	SETDB1	chr1:246678163-246679572	K562	blood:	n/a	n/a
26	SETDB1	chr1:246678303-246679323	U2OS	brain:	n/a	n/a
27	SP1	chr1:246678755-246679027	GM12878	blood:	n/a	n/a
28	SP1	chr1:246678833-246679072	GM12878	blood:	n/a	n/a
29	TCF12	chr1:246678798-246679009	GM12878	blood:	n/a	n/a
30	TCF12	chr1:246678423-246679317	A549	lung:	n/a	n/a
31	TCF12	chr1:246678816-246679012	GM12878	blood:	n/a	n/a
32	TRIM28	chr1:246678511-246679201	K562	blood:	n/a	n/a
33	TRIM28	chr1:246678671-246679072	K562	blood:	n/a	n/a
34	USF1	chr1:246678646-246679067	ECC-1	luminal epithelium:	n/a	n/a
35	USF1	chr1:246678807-246679024	GM12878	blood:	n/a	n/a
36	USF1	chr1:246678737-246679068	A549	lung:	n/a	n/a
37	USF1	chr1:246678674-246679008	K562	blood:	n/a	n/a
38	ZNF143	chr1:246678744-246679035	GM12878	blood:	n/a	n/a
39	ZNF143	chr1:246678706-246679033	K562	blood:	n/a	n/a
40	ZNF143	chr1:246678748-246679021	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:246684329-246684379	PFSK-1	brain:	n/a
2	chr1:246684329-246684379	PFSK-1	brain:	n/a
3	chr1:246684113-246684163	SK-N-SH_RA	brain:	n/a
4	chr1:246684113-246684163	PrEC	prostate:	n/a
5	chr1:246684113-246684163	GM19239	blood:	n/a
6	chr1:246684329-246684379	NB4	blood:	n/a
7	chr1:246684113-246684163	K562	blood:	n/a
8	chr1:246684113-246684163	HRE	kidney:	n/a
9	chr1:246684113-246684163	Hepatocyte	liver:	n/a
10	chr1:246684329-246684379	HRPEpiC	eye:	n/a
11	chr1:246684329-246684379	HepG2	liver:	n/a
12	chr1:246684329-246684379	AG09309	skin:	n/a
13	chr1:246684329-246684379	GM12878	blood:	n/a
14	chr1:246684329-246684379	PANC-1	pancreas:	n/a
15	chr1:246684329-246684379	IMR90	lung:	fetal
16	chr1:246684113-246684163	HIPEpiC	eye:	n/a
17	chr1:246684329-246684379	SK-N-SH	brain:	n/a
18	chr1:246684113-246684163	HRCEpiC	kidney:	n/a
19	chr1:246684113-246684163	BJ	skin:	n/a
20	chr1:246684329-246684379	Jurkat	blood:	n/a
21	chr1:246684329-246684379	NH-A	brain:	n/a
22	chr1:246684329-246684379	U87	brain:	n/a
23	chr1:246684113-246684163	HUVEC	blood vessel:	n/a
24	chr1:246684329-246684379	LNCaP	prostate:	n/a
25	chr1:246684113-246684163	T-47D	breast:	n/a
26	chr1:246684329-246684379	HCM	heart:	n/a
27	chr1:246684329-246684379	PrEC	prostate:	n/a
28	chr1:246684113-246684163	ovcar-3	ovarian:	n/a
29	chr1:246684329-246684379	HCT-116	colon:	n/a
30	chr1:246684113-246684163	GM12878	blood:	n/a
31	chr1:246684329-246684379	HRE	kidney:	n/a
32	chr1:246684329-246684379	HEK293	kidney:	embryo
33	chr1:246684113-246684163	A549	lung:	n/a
34	chr1:246684329-246684379	T-47D	breast:	n/a
35	chr1:246684113-246684163	AoSMC	blood vessel:	n/a
36	chr1:246684329-246684379	AG04449	skin:	fetal
37	chr1:246684113-246684163	SK-N-MC	brain:	n/a
38	chr1:246684329-246684379	HIPEpiC	eye:	n/a
39	chr1:246684329-246684379	ECC-1	luminal epithelium:	n/a
40	chr1:246684113-246684163	HNPCEpiC	eye:	n/a
41	chr1:246684113-246684163	Jurkat	blood:	n/a
42	chr1:246684113-246684163	HCF	heart:	n/a
43	chr1:246684329-246684379	A549	lung:	n/a
44	chr1:246684113-246684163	SKMC	muscle:	n/a
45	chr1:246684329-246684379	HCF	heart:	n/a
46	chr1:246684329-246684379	HMEC	breast:	n/a
47	chr1:246684113-246684163	HCPEpiC	choroid plexus:	n/a
48	chr1:246684113-246684163	RPTEC	kidney:	n/a
49	chr1:246684329-246684379	MCF10A-Er-Src	breast:	n/a
50	chr1:246684329-246684379	NT2-D1	testis:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:246675941..246677837-chr1:246690243..246691977,2	K562	blood:
2	chr1:246669150..246672151-chr1:246672470..246677945,5	K562	blood:
3	chr1:246685591..246688881-chr1:246727054..246730014,3	K562	blood:
4	chr1:246679194..246683104-chr1:246689621..246693878,4	K562	blood:
5	chr1:246680075..246681714-chr1:246684033..246686969,2	K562	blood:

Variant related genes	Relation type
ENSG00000227728	TF binding region
ENSG00000242042	TF binding region
ENSG00000230813	TF binding region
ENSG00000227728	CpG island
ENSG00000242042	CpG island
ENSG00000230813	CpG island
ENSG00000227728	chromatin interactions
ENSG00000162852	chromatin interactions
ENSG00000185420	chromatin interactions
ENSG00000162851	chromatin interactions
ENSG00000230813	chromatin interactions
ENSG00000229112	chromatin interactions

Extended variants
information (count: 479 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:479 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12122591	chr1:246676039-246676040	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141535402	chr1:246676042-246676043	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs535946374	chr1:246676048-246676049	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs555431538	chr1:246676073-246676074	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs566053946	chr1:246676086-246676087	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs535049065	chr1:246676136-246676137	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs558072006	chr1:246676163-246676164	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs578011970	chr1:246676165-246676166	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs537217606	chr1:246676192-246676193	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs150873043	chr1:246676194-246676195	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs573614566	chr1:246676198-246676199	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs200100003	chr1:246676210-246676211	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs369815155	chr1:246676212-246676213	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs542697485	chr1:246676221-246676222	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs531005138	chr1:246676226-246676227	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs559230280	chr1:246676243-246676244	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs35025015	chr1:246676276-246676277	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs189630939	chr1:246676288-246676289	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs544637276	chr1:246676293-246676294	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs564404444	chr1:246676295-246676296	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs4654277	chr1:246676325-246676326	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs368265315	chr1:246676335-246676336	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs545401031	chr1:246676370-246676371	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs563912718	chr1:246676421-246676422	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs73136173	chr1:246676453-246676454	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs143490967	chr1:246676461-246676462	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs566079384	chr1:246676483-246676484	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs371628867	chr1:246676487-246676488	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs534983854	chr1:246676529-246676530	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs147140790	chr1:246676557-246676558	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs185032308	chr1:246676564-246676565	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs537354628	chr1:246676579-246676580	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs74317982	chr1:246676580-246676581	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs573778103	chr1:246676583-246676584	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs374441984	chr1:246676599-246676600	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs536085791	chr1:246676655-246676656	ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs553016563	chr1:246676718-246676719	ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs10737791	chr1:246676735-246676736	ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs544575680	chr1:246676749-246676750	ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs562320275	chr1:246676792-246676793	ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs564540759	chr1:246676813-246676814	ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs577873243	chr1:246676825-246676826	ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs140254603	chr1:246676853-246676854	ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs563871011	chr1:246676856-246676857	ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs113219239	chr1:246676859-246676860	ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs531440001	chr1:246676868-246676869	ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs549330833	chr1:246676889-246676890	ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs371549860	chr1:246676891-246676892	ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs559858435	chr1:246676906-246676907	ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs528602722	chr1:246676926-246676927	ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	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
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	19805367	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246675000-246677400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:246675400-246676600	Enhancers	HepG2	liver
3	chr1:246676000-246676200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:246676600-246677400	Flanking Active TSS	HepG2	liver
5	chr1:246677400-246677600	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr1:246677400-246677800	Enhancers	Primary T cells fromperipheralblood	blood
7	chr1:246677400-246677800	Active TSS	A549	lung
8	chr1:246677400-246677800	Flanking Bivalent TSS/Enh	HepG2	liver
9	chr1:246677800-246678000	Active TSS	HepG2	liver
10	chr1:246678000-246678200	Bivalent/Poised TSS	HepG2	liver
11	chr1:246678200-246678800	ZNF genes & repeats	HepG2	liver
12	chr1:246680200-246682400	Weak transcription	Right Atrium	heart
13	chr1:246680600-246683000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:246681600-246681800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:246685400-246685600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:246685600-246687600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:246686200-246686400	Bivalent Enhancer	HepG2	liver
18	chr1:246687400-246687600	Bivalent Enhancer	HepG2	liver
19	chr1:246687600-246687800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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