Variant report

Variant	nsv547616
Chromosome Location	chr1:120099044-120123642
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	chr1:120112719-120112961	K562	blood:	n/a	chr1:120112801-120112814
5	CEBPB	chr1:120107417-120107689	HepG2	liver:	n/a	chr1:120107566-120107577 chr1:120107585-120107598
6	CEBPB	chr1:120107540-120107630	K562	blood:	n/a	chr1:120107566-120107577 chr1:120107585-120107598
7	CEBPB	chr1:120112658-120112932	K562	blood:	n/a	chr1:120112801-120112814
8	CEBPB	chr1:120123093-120123321	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr1:120112901-120113235	K562	blood:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
10	CTCF	chr1:120112920-120113070	HFF-Myc	foreskin:	n/a	n/a
11	CTCF	chr1:120112920-120113070	MCF-7	breast:	n/a	n/a
12	CTCF	chr1:120112969-120113164	GM13976	blood:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
13	CTCF	chr1:120112949-120113249	GM12878	blood:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
14	CTCF	chr1:120112900-120113050	HBMEC	blood vessel:	n/a	n/a
15	CTCF	chr1:120112970-120113169	Pancreas_OC	pancreas:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
16	CTCF	chr1:120112951-120113203	GM10266	blood:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
17	CTCF	chr1:120112964-120113208	Medullo	brain:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
18	CTCF	chr1:120112880-120113030	SAEC	small airway:	n/a	n/a
19	CTCF	chr1:120123439-120123494	GM19240	blood:	n/a	n/a
20	CTCF	chr1:120103859-120103968	GM10266	blood:	n/a	n/a
21	CTCF	chr1:120112900-120113050	GM12875	blood:	n/a	n/a
22	CTCF	chr1:120112945-120113204	MCF-7	breast:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
23	CTCF	chr1:120112940-120113090	GM12875	blood:	n/a	n/a
24	CTCF	chr1:120112880-120113030	GM12869	blood:	n/a	n/a
25	CTCF	chr1:120112880-120113030	GM12871	blood:	n/a	n/a
26	CTCF	chr1:120112920-120113070	GM12873	blood:	n/a	n/a
27	CTCF	chr1:120112900-120113050	HPAF	blood vessel:	n/a	n/a
28	CTCF	chr1:120112965-120113174	LNCaP	prostate:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
29	CTCF	chr1:120112900-120113050	GM12874	blood:	n/a	n/a
30	CTCF	chr1:120101225-120101337	GM10248	blood:	n/a	n/a
31	CTCF	chr1:120112873-120113214	K562	blood:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
32	CTCF	chr1:120112880-120113030	HPF	lung:	n/a	n/a
33	CTCF	chr1:120113053-120113124	Spleen_OC	spleen:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
34	CTCF	chr1:120123443-120123482	A549	lung:	n/a	n/a
35	CTCF	chr1:120112900-120113050	HRPEpiC	eye:	n/a	n/a
36	CTCF	chr1:120112920-120113070	HFF	foreskin:	n/a	n/a
37	CTCF	chr1:120112972-120113135	A549	lung:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
38	CTCF	chr1:120112900-120113050	WERI-Rb-1	eye:	n/a	n/a
39	CTCF	chr1:120112943-120113202	MCF-7	breast:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
40	CTCF	chr1:120112989-120113061	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr1:120112935-120113215	Hela-S3	cervix:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
42	CTCF	chr1:120112900-120113050	GM12865	blood:	n/a	n/a
43	CTCF	chr1:120112900-120113050	NHEK	skin:	n/a	n/a
44	CTCF	chr1:120112920-120113070	NB4	blood:	n/a	n/a
45	CTCF	chr1:120112949-120113085	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr1:120112950-120113248	HepG2	liver:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
47	CTCF	chr1:120112880-120113030	K562	blood:	n/a	n/a
48	CTCF	chr1:120112880-120113030	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr1:120112905-120113200	A549	lung:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
50	CTCF	chr1:120113012-120113216	K562	blood:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099

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: 1049 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1049 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10923859	chr1:120099044-120099045	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs587760323	chr1:120099053-120099054	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs187928293	chr1:120099110-120099111	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs192146453	chr1:120099115-120099116	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs587771561	chr1:120099130-120099131	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs34291690	chr1:120099137-120099138	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs112210228	chr1:120099262-120099263	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs184538472	chr1:120099358-120099359	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs372981197	chr1:120099374-120099375	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs12405517	chr1:120099386-120099387	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs369005220	chr1:120099440-120099441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189314522	chr1:120099472-120099473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192872878	chr1:120099491-120099492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs587656926	chr1:120099503-120099504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10923860	chr1:120099537-120099538	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs587594395	chr1:120099555-120099556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17023965	chr1:120099611-120099612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10923861	chr1:120099620-120099621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs587702780	chr1:120099657-120099658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs587601682	chr1:120099658-120099659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145646132	chr1:120099710-120099711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs587764414	chr1:120099729-120099730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs587635753	chr1:120099828-120099829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138175389	chr1:120099832-120099833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184164008	chr1:120099861-120099862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs587630105	chr1:120099874-120099875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs587683271	chr1:120099876-120099877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs58999264	chr1:120099889-120099890	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs587697245	chr1:120099905-120099906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374341014	chr1:120099908-120099909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs587772899	chr1:120099925-120099926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188911027	chr1:120099926-120099927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181580638	chr1:120099944-120099945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149640575	chr1:120099976-120099977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4659200	chr1:120099980-120099981	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs587716487	chr1:120099981-120099982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114376025	chr1:120099994-120099995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143390859	chr1:120100005-120100006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs587607463	chr1:120100017-120100018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148360922	chr1:120100018-120100019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs587740133	chr1:120100032-120100033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs587617215	chr1:120100048-120100049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112735111	chr1:120100057-120100058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs587735066	chr1:120100058-120100059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186085353	chr1:120100109-120100110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs587668266	chr1:120100112-120100113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114816294	chr1:120100239-120100240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs587624476	chr1:120100265-120100266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs587703959	chr1:120100269-120100270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs587763786	chr1:120100452-120100453	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:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120092800-120116600	Weak transcription	Spleen	Spleen
2	chr1:120097000-120099600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:120097000-120105400	Weak transcription	Placenta	Placenta
4	chr1:120097200-120101200	Weak transcription	Pancreas	Pancrea
5	chr1:120097200-120107400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:120097600-120107400	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:120097800-120100000	Weak transcription	Fetal Lung	lung
8	chr1:120098000-120100600	Weak transcription	Ovary	ovary
9	chr1:120098800-120099400	Bivalent Enhancer	HSMMtube	muscle
10	chr1:120098800-120099600	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr1:120099000-120099600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr1:120100000-120100800	Enhancers	Fetal Lung	lung
13	chr1:120100600-120102200	Enhancers	Ovary	ovary
14	chr1:120100800-120105000	Weak transcription	Fetal Lung	lung
15	chr1:120102200-120105400	Weak transcription	Ovary	ovary
16	chr1:120103200-120103400	Enhancers	GM12878-XiMat	blood
17	chr1:120103400-120106600	Weak transcription	GM12878-XiMat	blood
18	chr1:120104000-120104200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:120104200-120105400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:120105000-120108000	Enhancers	Fetal Lung	lung
21	chr1:120105000-120108800	Enhancers	Fetal Intestine Large	intestine
22	chr1:120105200-120105800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:120105200-120108600	Enhancers	Fetal Intestine Small	intestine
24	chr1:120105400-120105800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:120105400-120105800	Enhancers	Placenta	Placenta
26	chr1:120105400-120106800	Enhancers	Ovary	ovary
27	chr1:120105600-120106400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:120105800-120106800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:120105800-120106800	Weak transcription	Placenta	Placenta
30	chr1:120106200-120106800	Enhancers	Fetal Stomach	stomach
31	chr1:120106200-120107200	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr1:120106200-120107400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr1:120106600-120106800	Enhancers	Lung	lung
34	chr1:120106600-120106800	Enhancers	Right Atrium	heart
35	chr1:120106600-120107400	Enhancers	GM12878-XiMat	blood
36	chr1:120106800-120107000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:120106800-120107600	Weak transcription	Right Atrium	heart
38	chr1:120106800-120108600	Weak transcription	Ovary	ovary
39	chr1:120106800-120111600	Weak transcription	Lung	lung
40	chr1:120106800-120112400	Enhancers	Placenta	Placenta
41	chr1:120107000-120107400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:120107000-120107600	Enhancers	Primary hematopoietic stem cells	blood
43	chr1:120107000-120109200	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr1:120107000-120109200	Enhancers	Primary B cells from peripheral blood	blood
45	chr1:120107200-120108600	Enhancers	Primary B cells from cord blood	blood
46	chr1:120107200-120108600	Enhancers	Brain Substantia Nigra	brain
47	chr1:120107200-120110000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr1:120107200-120110600	Enhancers	HMEC	breast
49	chr1:120107400-120107800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr1:120107400-120107800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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