Variant report

Variant	esv3444288
Chromosome Location	chr1:153195950-153202182
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	chr1:153198164-153198257	HepG2	liver:	n/a	n/a
2	CTCF	chr1:153201651-153201712	GM13977	blood:	n/a	n/a
3	CTCF	chr1:153201760-153201910	HFF-Myc	foreskin:	n/a	n/a
4	CTCF	chr1:153196420-153196570	AG09309	skin:	n/a	n/a
5	CTCF	chr1:153196060-153196210	AG09319	gingival:	n/a	n/a
6	CTCF	chr1:153201620-153202106	GM12892	blood:	n/a	chr1:153201922-153201943 chr1:153201928-153201944 chr1:153201934-153201942 chr1:153201927-153201945 chr1:153201929-153201942
7	CTCF	chr1:153196012-153196093	Gliobla	brain:	n/a	n/a
8	CTCF	chr1:153201760-153201910	HRE	kidney:	n/a	n/a
9	CTCF	chr1:153201880-153202030	HEK293	kidney:	n/a	chr1:153201922-153201943 chr1:153201928-153201944 chr1:153201934-153201942 chr1:153201927-153201945 chr1:153201929-153201942
10	CTCF	chr1:153196460-153196610	GM12873	blood:	n/a	n/a
11	CTCF	chr1:153196301-153196302	GM19239	blood:	n/a	n/a
12	CTCF	chr1:153201840-153201990	AoAF	blood vessel:	n/a	chr1:153201922-153201943 chr1:153201928-153201944 chr1:153201934-153201942 chr1:153201927-153201945 chr1:153201929-153201942
13	CTCF	chr1:153201780-153201930	HVMF	connective:	n/a	n/a
14	CTCF	chr1:153196260-153196410	HepG2	liver:	n/a	n/a
15	CTCF	chr1:153201740-153201890	HFF-Myc	foreskin:	n/a	n/a
16	CTCF	chr1:153201860-153202010	AG10803	skin:	n/a	chr1:153201922-153201943 chr1:153201928-153201944 chr1:153201934-153201942 chr1:153201927-153201945 chr1:153201929-153201942
17	CTCF	chr1:153201780-153201930	GM12875	blood:	n/a	n/a
18	CTCF	chr1:153196240-153196390	WERI-Rb-1	eye:	n/a	n/a
19	CTCF	chr1:153201760-153201910	HRPEpiC	eye:	n/a	n/a
20	CTCF	chr1:153201880-153202030	BJ	skin:	n/a	chr1:153201922-153201943 chr1:153201928-153201944 chr1:153201934-153201942 chr1:153201927-153201945 chr1:153201929-153201942
21	CTCF	chr1:153196120-153196270	NHDF-neo	bronchial:	n/a	n/a
22	CTCF	chr1:153202000-153202150	HA-sp	spinal cord:	n/a	n/a
23	CTCF	chr1:153201638-153202118	Gliobla	brain:	n/a	chr1:153201922-153201943 chr1:153201928-153201944 chr1:153201934-153201942 chr1:153201927-153201945 chr1:153201929-153201942
24	CTCF	chr1:153196028-153196089	GM12892	blood:	n/a	n/a
25	CTCF	chr1:153201800-153201950	GM12866	blood:	n/a	chr1:153201922-153201943 chr1:153201928-153201944 chr1:153201934-153201942 chr1:153201927-153201945 chr1:153201929-153201942
26	CTCF	chr1:153196160-153196310	GM12872	blood:	n/a	n/a
27	CTCF	chr1:153196025-153196108	Kidney_OC	kidney:	n/a	n/a
28	CTCF	chr1:153201780-153201930	WERI-Rb-1	eye:	n/a	n/a
29	CTCF	chr1:153201880-153202030	GM12873	blood:	n/a	chr1:153201922-153201943 chr1:153201928-153201944 chr1:153201934-153201942 chr1:153201927-153201945 chr1:153201929-153201942
30	CTCF	chr1:153201880-153202030	SK-N-SH_RA	brain:	n/a	chr1:153201922-153201943 chr1:153201928-153201944 chr1:153201934-153201942 chr1:153201927-153201945 chr1:153201929-153201942
31	CTCF	chr1:153201880-153202030	AG04449	skin:	n/a	chr1:153201922-153201943 chr1:153201928-153201944 chr1:153201934-153201942 chr1:153201927-153201945 chr1:153201929-153201942
32	CTCF	chr1:153201780-153201930	GM12864	blood:	n/a	n/a
33	CTCF	chr1:153201880-153202030	GM12875	blood:	n/a	chr1:153201922-153201943 chr1:153201928-153201944 chr1:153201934-153201942 chr1:153201927-153201945 chr1:153201929-153201942
34	CTCF	chr1:153201760-153201910	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr1:153201760-153201910	HBMEC	blood vessel:	n/a	n/a
36	CTCF	chr1:153196013-153196106	GM20000	blood:	n/a	n/a
37	CTCF	chr1:153201800-153201950	HCT-116	colon:	n/a	chr1:153201922-153201943 chr1:153201928-153201944 chr1:153201934-153201942 chr1:153201927-153201945 chr1:153201929-153201942
38	CTCF	chr1:153201807-153202073	GM13976	blood:	n/a	chr1:153201922-153201943 chr1:153201928-153201944 chr1:153201934-153201942 chr1:153201927-153201945 chr1:153201929-153201942
39	CTCF	chr1:153201800-153201950	GM12870	blood:	n/a	chr1:153201922-153201943 chr1:153201928-153201944 chr1:153201934-153201942 chr1:153201927-153201945 chr1:153201929-153201942
40	CTCF	chr1:153200580-153200730	AG10803	skin:	n/a	n/a
41	CTCF	chr1:153201647-153201678	Medullo	brain:	n/a	n/a
42	CTCF	chr1:153201627-153202102	GM12891	blood:	n/a	chr1:153201922-153201943 chr1:153201928-153201944 chr1:153201934-153201942 chr1:153201927-153201945 chr1:153201929-153201942
43	CTCF	chr1:153195972-153196082	Medullo	brain:	n/a	n/a
44	CTCF	chr1:153201780-153201930	AG09309	skin:	n/a	n/a
45	CTCF	chr1:153201760-153201910	GM12878	blood:	n/a	n/a
46	CTCF	chr1:153201880-153202030	HepG2	liver:	n/a	chr1:153201922-153201943 chr1:153201928-153201944 chr1:153201934-153201942 chr1:153201927-153201945 chr1:153201929-153201942
47	CTCF	chr1:153201780-153202097	A549	lung:	n/a	chr1:153201922-153201943 chr1:153201928-153201944 chr1:153201934-153201942 chr1:153201927-153201945 chr1:153201929-153201942
48	CTCF	chr1:153201760-153201910	SAEC	small airway:	n/a	n/a
49	CTCF	chr1:153201760-153201910	GM12869	blood:	n/a	n/a
50	CTCF	chr1:153201740-153201890	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:152842274..152842902-chr1:153195531..153196166,2	K562	blood:
2	chr1:153199630..153201590-chr1:153203722..153207210,3	K562	blood:
3	chr1:152842126..152842930-chr1:153201547..153202193,2	K562	blood:
4	chr1:152841961..152842705-chr1:153201839..153202398,2	MCF-7	breast:
5	chr1:152890154..152890898-chr1:153195415..153196086,2	K562	blood:
6	chr1:153162642..153163332-chr1:153195160..153195963,2	MCF-7	breast:
7	chr1:153188340..153191053-chr1:153194176..153196753,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230779	TF binding region
ENSG00000203783	chromatin interactions

Extended variants
information (count: 273 )
Associated
traits (count: 130 )

Variant overlapped rSNPs/rCNVs (count:273 , 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	rs560060749	chr1:153195970-153195971	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs66775546	chr1:153196019-153196020	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs3058228	chr1:153196022-153196023	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs369138840	chr1:153196077-153196078	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs537938162	chr1:153196079-153196080	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs549170083	chr1:153196112-153196113	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs35713450	chr1:153196223-153196224	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs531455074	chr1:153196231-153196232	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs551528168	chr1:153196233-153196234	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs571347792	chr1:153196255-153196256	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs533813974	chr1:153196261-153196262	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs547414864	chr1:153196269-153196270	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs567177670	chr1:153196274-153196275	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs535736508	chr1:153196275-153196276	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs143281129	chr1:153196301-153196302	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs575721219	chr1:153196305-153196306	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs77035569	chr1:153196320-153196321	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs73010321	chr1:153196325-153196326	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs577711172	chr1:153196341-153196342	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs78601493	chr1:153196381-153196382	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs374788610	chr1:153196437-153196438	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs146685745	chr1:153196488-153196489	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs573895139	chr1:153196498-153196499	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs542525786	chr1:153196541-153196542	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs562778897	chr1:153196577-153196578	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs140247766	chr1:153196586-153196587	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs535420421	chr1:153196590-153196591	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs80006771	chr1:153196656-153196657	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs61801955	chr1:153196659-153196660	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs565021010	chr1:153196669-153196670	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs572277437	chr1:153196685-153196686	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs118039842	chr1:153196696-153196697	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs150292018	chr1:153196702-153196703	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs565987062	chr1:153196725-153196726	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs533876653	chr1:153196730-153196731	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs569519120	chr1:153196774-153196775	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs112877463	chr1:153196784-153196785	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs564291767	chr1:153196809-153196810	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs373543764	chr1:153196812-153196813	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs192546216	chr1:153196875-153196876	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs34005908	chr1:153196879-153196880	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs184982317	chr1:153196906-153196907	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs145426207	chr1:153196908-153196909	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs188744346	chr1:153196943-153196944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573976554	chr1:153196962-153196963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542991442	chr1:153196976-153196977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114274433	chr1:153197000-153197001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576285712	chr1:153197005-153197006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144626547	chr1:153197051-153197052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545228865	chr1:153197083-153197084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:130)

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
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	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
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	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
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	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
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
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	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
Follicular lymphoma	18703704	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
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153183200-153205000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:153192800-153196600	Enhancers	Ovary	ovary
3	chr1:153196200-153196400	Bivalent Enhancer	Hela-S3	cervix
4	chr1:153196200-153196600	Enhancers	GM12878-XiMat	blood
5	chr1:153197800-153198000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:153198000-153198200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:153201600-153201800	Enhancers	Lung	lung
8	chr1:153201800-153203600	Weak transcription	Lung	lung
9	chr1:153201800-153204400	Enhancers	Primary neutrophils fromperipheralblood	blood

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