Variant report

Variant	nsv1007488
Chromosome Location	chr1:120098719-120140011
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	ATF1	chr1:120125462-120125747	K562	blood:	n/a	n/a
2	ATF2	chr1:120107169-120107553	GM12878	blood:	n/a	n/a
3	BATF	chr1:120107245-120107513	GM12878	blood:	n/a	n/a
4	BCL3	chr1:120107142-120107447	GM12878	blood:	n/a	chr1:120107299-120107308
5	BRCA1	chr1:120125543-120125709	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr1:120107540-120107630	K562	blood:	n/a	chr1:120107566-120107577 chr1:120107585-120107598
7	CEBPB	chr1:120123093-120123321	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr1:120112719-120112961	K562	blood:	n/a	chr1:120112801-120112814
9	CEBPB	chr1:120112658-120112932	K562	blood:	n/a	chr1:120112801-120112814
10	CEBPB	chr1:120107417-120107689	HepG2	liver:	n/a	chr1:120107566-120107577 chr1:120107585-120107598
11	CTCF	chr1:120125477-120125728	Medullo	brain:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
12	CTCF	chr1:120125459-120125732	GM20000	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
13	CTCF	chr1:120125580-120125730	NHDF-neo	bronchial:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
14	CTCF	chr1:120112939-120113223	GM12891	blood:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
15	CTCF	chr1:120125560-120125710	HCPEpiC	choroid plexus:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
16	CTCF	chr1:120125560-120125710	GM12870	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
17	CTCF	chr1:120125515-120125729	Hela-S3	cervix:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
18	CTCF	chr1:120123450-120123473	GM12892	blood:	n/a	n/a
19	CTCF	chr1:120112959-120113198	A549	lung:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
20	CTCF	chr1:120125600-120125750	HCT-116	colon:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
21	CTCF	chr1:120125540-120125690	GM12873	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
22	CTCF	chr1:120125431-120125805	GM12878	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
23	CTCF	chr1:120125529-120125735	GM12892	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
24	CTCF	chr1:120112900-120113050	GM12866	blood:	n/a	n/a
25	CTCF	chr1:120125560-120125710	Caco-2	colon:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
26	CTCF	chr1:120125560-120125710	HA-sp	spinal cord:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
27	CTCF	chr1:120125560-120125710	GM12873	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
28	CTCF	chr1:120125508-120125722	MCF-7	breast:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
29	CTCF	chr1:120125560-120125710	NHEK	skin:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
30	CTCF	chr1:120125540-120125690	K562	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
31	CTCF	chr1:120125560-120125710	HVMF	connective:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
32	CTCF	chr1:120125580-120125730	Hela-S3	cervix:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
33	CTCF	chr1:120125560-120125710	GM06990	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
34	CTCF	chr1:120112920-120113070	GM12872	blood:	n/a	n/a
35	CTCF	chr1:120125509-120125738	K562	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
36	CTCF	chr1:120112920-120113070	RPTEC	kidney:	n/a	n/a
37	CTCF	chr1:120125600-120125750	GM12874	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
38	CTCF	chr1:120125560-120125710	GM12872	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
39	CTCF	chr1:120112955-120113100	H1-hESC	embryonic stem cell:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
40	CTCF	chr1:120112920-120113070	HCT-116	colon:	n/a	n/a
41	CTCF	chr1:120125480-120125630	GM12870	blood:	n/a	n/a
42	CTCF	chr1:120112900-120113050	AG04450	lung:	n/a	n/a
43	CTCF	chr1:120125500-120125750	HUVEC	blood vessel:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
44	CTCF	chr1:120125500-120125730	K562	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
45	CTCF	chr1:120112965-120113174	LNCaP	prostate:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
46	CTCF	chr1:120112970-120113184	GM10248	blood:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
47	CTCF	chr1:120125560-120125710	WERI-Rb-1	eye:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
48	CTCF	chr1:120125500-120125650	GM12867	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
49	CTCF	chr1:120125700-120125850	A549	lung:	n/a	n/a
50	CTCF	chr1:120128467-120128522	GM13976	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:120125200..120126107-chr1:120217588..120218409,3	K562	blood:
2	chr1:120125219..120126121-chr1:120153919..120154547,2	MCF-7	breast:

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
GAPDHP33	TF binding region
HSD3BP5	TF binding region

Extended variants
information (count: 1791 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1791 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192332075	chr1:120098719-120098720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs587772036	chr1:120098734-120098735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6692496	chr1:120098785-120098786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10923857	chr1:120098807-120098808	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs6692504	chr1:120098815-120098816	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs75661487	chr1:120098834-120098835	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs587637212	chr1:120098859-120098860	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs587722502	chr1:120098865-120098866	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs146809341	chr1:120098873-120098874	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs587681519	chr1:120098927-120098928	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs183333358	chr1:120098928-120098929	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs10923858	chr1:120098950-120098951	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs76042473	chr1:120099000-120099001	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs376817306	chr1:120099016-120099017	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs587627801	chr1:120099033-120099034	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs10923859	chr1:120099044-120099045	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs587760323	chr1:120099053-120099054	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs187928293	chr1:120099110-120099111	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs192146453	chr1:120099115-120099116	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs587771561	chr1:120099130-120099131	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs34291690	chr1:120099137-120099138	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs112210228	chr1:120099262-120099263	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs184538472	chr1:120099358-120099359	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs372981197	chr1:120099374-120099375	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs12405517	chr1:120099386-120099387	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs369005220	chr1:120099440-120099441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189314522	chr1:120099472-120099473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192872878	chr1:120099491-120099492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs587656926	chr1:120099503-120099504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10923860	chr1:120099537-120099538	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs587594395	chr1:120099555-120099556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs17023965	chr1:120099611-120099612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10923861	chr1:120099620-120099621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs587702780	chr1:120099657-120099658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs587601682	chr1:120099658-120099659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145646132	chr1:120099710-120099711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs587764414	chr1:120099729-120099730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs587635753	chr1:120099828-120099829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138175389	chr1:120099832-120099833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184164008	chr1:120099861-120099862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs587630105	chr1:120099874-120099875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs587683271	chr1:120099876-120099877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs58999264	chr1:120099889-120099890	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs587697245	chr1:120099905-120099906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374341014	chr1:120099908-120099909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs587772899	chr1:120099925-120099926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188911027	chr1:120099926-120099927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181580638	chr1:120099944-120099945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149640575	chr1:120099976-120099977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4659200	chr1:120099980-120099981	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:88)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120092800-120116600	Weak transcription	Spleen	Spleen
2	chr1:120094800-120098800	Enhancers	HSMMtube	muscle
3	chr1:120095800-120099000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr1:120097000-120098800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr1:120097000-120099600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:120097000-120105400	Weak transcription	Placenta	Placenta
7	chr1:120097200-120101200	Weak transcription	Pancreas	Pancrea
8	chr1:120097200-120107400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:120097600-120107400	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:120097800-120100000	Weak transcription	Fetal Lung	lung
11	chr1:120098000-120100600	Weak transcription	Ovary	ovary
12	chr1:120098800-120099400	Bivalent Enhancer	HSMMtube	muscle
13	chr1:120098800-120099600	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr1:120099000-120099600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr1:120100000-120100800	Enhancers	Fetal Lung	lung
16	chr1:120100600-120102200	Enhancers	Ovary	ovary
17	chr1:120100800-120105000	Weak transcription	Fetal Lung	lung
18	chr1:120102200-120105400	Weak transcription	Ovary	ovary
19	chr1:120103200-120103400	Enhancers	GM12878-XiMat	blood
20	chr1:120103400-120106600	Weak transcription	GM12878-XiMat	blood
21	chr1:120104000-120104200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:120104200-120105400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:120105000-120108000	Enhancers	Fetal Lung	lung
24	chr1:120105000-120108800	Enhancers	Fetal Intestine Large	intestine
25	chr1:120105200-120105800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:120105200-120108600	Enhancers	Fetal Intestine Small	intestine
27	chr1:120105400-120105800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:120105400-120105800	Enhancers	Placenta	Placenta
29	chr1:120105400-120106800	Enhancers	Ovary	ovary
30	chr1:120105600-120106400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:120105800-120106800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:120105800-120106800	Weak transcription	Placenta	Placenta
33	chr1:120106200-120106800	Enhancers	Fetal Stomach	stomach
34	chr1:120106200-120107200	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr1:120106200-120107400	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr1:120106600-120106800	Enhancers	Lung	lung
37	chr1:120106600-120106800	Enhancers	Right Atrium	heart
38	chr1:120106600-120107400	Enhancers	GM12878-XiMat	blood
39	chr1:120106800-120107000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:120106800-120107600	Weak transcription	Right Atrium	heart
41	chr1:120106800-120108600	Weak transcription	Ovary	ovary
42	chr1:120106800-120111600	Weak transcription	Lung	lung
43	chr1:120106800-120112400	Enhancers	Placenta	Placenta
44	chr1:120107000-120107400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:120107000-120107600	Enhancers	Primary hematopoietic stem cells	blood
46	chr1:120107000-120109200	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr1:120107000-120109200	Enhancers	Primary B cells from peripheral blood	blood
48	chr1:120107200-120108600	Enhancers	Primary B cells from cord blood	blood
49	chr1:120107200-120108600	Enhancers	Brain Substantia Nigra	brain
50	chr1:120107200-120110000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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