Variant report

Variant	esv14340
Chromosome Location	chr1:120104966-120113946
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	ATF2	chr1:120107169-120107553	GM12878	blood:	n/a	n/a
2	BATF	chr1:120107245-120107513	GM12878	blood:	n/a	n/a
3	BCL3	chr1:120107142-120107447	GM12878	blood:	n/a	chr1:120107299-120107308
4	CEBPB	chr1:120112658-120112932	K562	blood:	n/a	chr1:120112801-120112814
5	CEBPB	chr1:120107417-120107689	HepG2	liver:	n/a	chr1:120107566-120107577 chr1:120107585-120107598
6	CEBPB	chr1:120112719-120112961	K562	blood:	n/a	chr1:120112801-120112814
7	CEBPB	chr1:120107540-120107630	K562	blood:	n/a	chr1:120107566-120107577 chr1:120107585-120107598
8	CTCF	chr1:120112860-120113010	A549	lung:	n/a	n/a
9	CTCF	chr1:120112951-120113203	GM10266	blood:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
10	CTCF	chr1:120112986-120113104	Lung_OC	lung:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
11	CTCF	chr1:120112949-120113249	GM12878	blood:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
12	CTCF	chr1:120112930-120113222	K562	blood:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
13	CTCF	chr1:120112945-120113210	GM12892	blood:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
14	CTCF	chr1:120112880-120113030	GM12870	blood:	n/a	n/a
15	CTCF	chr1:120112900-120113050	HEK293	kidney:	n/a	n/a
16	CTCF	chr1:120112900-120113050	HBMEC	blood vessel:	n/a	n/a
17	CTCF	chr1:120112880-120113030	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr1:120112920-120113070	BE2_C	brain:	n/a	n/a
19	CTCF	chr1:120112905-120113200	A549	lung:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
20	CTCF	chr1:120112989-120113061	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr1:120113001-120113172	A549	lung:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
22	CTCF	chr1:120112880-120113030	BE2_C	brain:	n/a	n/a
23	CTCF	chr1:120112920-120113070	HCT-116	colon:	n/a	n/a
24	CTCF	chr1:120112957-120113203	Fibrobl	skin:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
25	CTCF	chr1:120112900-120113050	HCPEpiC	choroid plexus:	n/a	n/a
26	CTCF	chr1:120112900-120113050	HRPEpiC	eye:	n/a	n/a
27	CTCF	chr1:120112982-120113171	Kidney_OC	kidney:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
28	CTCF	chr1:120112880-120113030	SAEC	small airway:	n/a	n/a
29	CTCF	chr1:120112900-120113299	K562	blood:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
30	CTCF	chr1:120113053-120113124	Spleen_OC	spleen:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
31	CTCF	chr1:120112920-120113070	RPTEC	kidney:	n/a	n/a
32	CTCF	chr1:120112900-120113050	GM12872	blood:	n/a	n/a
33	CTCF	chr1:120112970-120113184	GM10248	blood:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
34	CTCF	chr1:120112945-120113147	GM20000	blood:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
35	CTCF	chr1:120112900-120113050	GM12866	blood:	n/a	n/a
36	CTCF	chr1:120112942-120113235	GM19238	blood:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
37	CTCF	chr1:120112900-120113050	GM12878	blood:	n/a	n/a
38	CTCF	chr1:120112920-120113070	MCF-7	breast:	n/a	n/a
39	CTCF	chr1:120112949-120113203	GM19239	blood:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
40	CTCF	chr1:120112880-120113030	GM12873	blood:	n/a	n/a
41	CTCF	chr1:120112920-120113070	NB4	blood:	n/a	n/a
42	CTCF	chr1:120112920-120113070	GM12872	blood:	n/a	n/a
43	CTCF	chr1:120112941-120113220	MCF-7	breast:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
44	CTCF	chr1:120112959-120113198	A549	lung:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
45	CTCF	chr1:120112901-120113235	K562	blood:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
46	CTCF	chr1:120112900-120113050	AG09319	gingival:	n/a	n/a
47	CTCF	chr1:120112880-120113030	GM12867	blood:	n/a	n/a
48	CTCF	chr1:120112880-120113030	GM12871	blood:	n/a	n/a
49	CTCF	chr1:120112943-120113202	MCF-7	breast:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
50	CTCF	chr1:120112949-120113085	SK-N-SH_RA	brain:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF697-3	chr1:120111655-120111668	NONHSAT005569

Variant related genes	Relation type
HSD3BP4	TF binding region
GAPDHP27	TF binding region

Extended variants
information (count: 424 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:424 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587627666	chr1:120104987-120104988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs58717709	chr1:120104991-120104992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs587680595	chr1:120104992-120104993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149146328	chr1:120105034-120105035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142285464	chr1:120105046-120105047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs587691278	chr1:120105048-120105049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs151239793	chr1:120105049-120105050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs732623	chr1:120105058-120105059	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs141871588	chr1:120105151-120105152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368043148	chr1:120105225-120105226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs587769088	chr1:120105233-120105234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs587643054	chr1:120105245-120105246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147102202	chr1:120105294-120105295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189413230	chr1:120105313-120105314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138509325	chr1:120105362-120105363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs587709576	chr1:120105418-120105419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs180907688	chr1:120105491-120105492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185518473	chr1:120105519-120105520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142529397	chr1:120105525-120105526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370546886	chr1:120105541-120105542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs587623500	chr1:120105580-120105581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373664402	chr1:120105595-120105596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs587682424	chr1:120105612-120105613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113826872	chr1:120105650-120105651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76347042	chr1:120105802-120105803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190332189	chr1:120105812-120105813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368106441	chr1:120105841-120105842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs587738255	chr1:120105881-120105882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs587617751	chr1:120105942-120105943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs587697738	chr1:120105983-120105984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73003178	chr1:120105999-120106000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375811508	chr1:120106024-120106025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111579543	chr1:120106068-120106069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78398470	chr1:120106153-120106154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs587763779	chr1:120106188-120106189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11805487	chr1:120106228-120106229	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs587690531	chr1:120106268-120106269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs587765116	chr1:120106297-120106298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs587644559	chr1:120106361-120106362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116035619	chr1:120106430-120106431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs587617454	chr1:120106433-120106434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs587675003	chr1:120106454-120106455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs587731555	chr1:120106466-120106467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79623939	chr1:120106553-120106554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs587657386	chr1:120106595-120106596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181385492	chr1:120106618-120106619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs587595934	chr1:120106634-120106635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs587673443	chr1:120106643-120106644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186010983	chr1:120106659-120106660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs587626332	chr1:120106660-120106661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Wilms tumour	21544195	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
Glioblastoma multiforme	21080181	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
Papillary thyroid carcinoma	21436994	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
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	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
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Aetanephric adenomas	20802469	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Systemic lupus erythematosus	21956041	CNVD
Breast cancer	21804112	CNVD
Mental retardation	21062444	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Cancer	21272361	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120092800-120116600	Weak transcription	Spleen	Spleen
2	chr1:120097000-120105400	Weak transcription	Placenta	Placenta
3	chr1:120097200-120107400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:120097600-120107400	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:120100800-120105000	Weak transcription	Fetal Lung	lung
6	chr1:120102200-120105400	Weak transcription	Ovary	ovary
7	chr1:120103400-120106600	Weak transcription	GM12878-XiMat	blood
8	chr1:120104200-120105400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:120105000-120108000	Enhancers	Fetal Lung	lung
10	chr1:120105000-120108800	Enhancers	Fetal Intestine Large	intestine
11	chr1:120105200-120105800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:120105200-120108600	Enhancers	Fetal Intestine Small	intestine
13	chr1:120105400-120105800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:120105400-120105800	Enhancers	Placenta	Placenta
15	chr1:120105400-120106800	Enhancers	Ovary	ovary
16	chr1:120105600-120106400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:120105800-120106800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:120105800-120106800	Weak transcription	Placenta	Placenta
19	chr1:120106200-120106800	Enhancers	Fetal Stomach	stomach
20	chr1:120106200-120107200	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr1:120106200-120107400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr1:120106600-120106800	Enhancers	Lung	lung
23	chr1:120106600-120106800	Enhancers	Right Atrium	heart
24	chr1:120106600-120107400	Enhancers	GM12878-XiMat	blood
25	chr1:120106800-120107000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:120106800-120107600	Weak transcription	Right Atrium	heart
27	chr1:120106800-120108600	Weak transcription	Ovary	ovary
28	chr1:120106800-120111600	Weak transcription	Lung	lung
29	chr1:120106800-120112400	Enhancers	Placenta	Placenta
30	chr1:120107000-120107400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:120107000-120107600	Enhancers	Primary hematopoietic stem cells	blood
32	chr1:120107000-120109200	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr1:120107000-120109200	Enhancers	Primary B cells from peripheral blood	blood
34	chr1:120107200-120108600	Enhancers	Primary B cells from cord blood	blood
35	chr1:120107200-120108600	Enhancers	Brain Substantia Nigra	brain
36	chr1:120107200-120110000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr1:120107200-120110600	Enhancers	HMEC	breast
38	chr1:120107400-120107800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
39	chr1:120107400-120107800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:120107400-120108000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:120107400-120108200	Flanking Active TSS	GM12878-XiMat	blood
42	chr1:120107400-120108600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:120107400-120108600	Enhancers	Brain Cingulate Gyrus	brain
44	chr1:120107400-120108800	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr1:120107400-120108800	Enhancers	Brain Hippocampus Middle	brain
46	chr1:120107400-120109400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:120107400-120109600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:120107400-120110600	Enhancers	NHEK	skin
49	chr1:120107600-120108000	Enhancers	Right Atrium	heart
50	chr1:120107600-120108600	Enhancers	Brain Inferior Temporal Lobe	brain

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