Variant report

Variant	nsv818400
Chromosome Location	chr1:120091434-120126990
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	chr1:120096485-120096507	K562	blood:	n/a	n/a
2	ATF1	chr1:120125462-120125747	K562	blood:	n/a	n/a
3	ATF2	chr1:120107169-120107553	GM12878	blood:	n/a	n/a
4	BATF	chr1:120107245-120107513	GM12878	blood:	n/a	n/a
5	BCL3	chr1:120107142-120107447	GM12878	blood:	n/a	chr1:120107299-120107308
6	BHLHE40	chr1:120092455-120092575	GM12878	blood:	n/a	n/a
7	BHLHE40	chr1:120092351-120092541	K562	blood:	n/a	n/a
8	BRCA1	chr1:120125543-120125709	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr1:120123093-120123321	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr1:120107540-120107630	K562	blood:	n/a	chr1:120107566-120107577 chr1:120107585-120107598
11	CEBPB	chr1:120107417-120107689	HepG2	liver:	n/a	chr1:120107566-120107577 chr1:120107585-120107598
12	CEBPB	chr1:120112658-120112932	K562	blood:	n/a	chr1:120112801-120112814
13	CEBPB	chr1:120112719-120112961	K562	blood:	n/a	chr1:120112801-120112814
14	CTCF	chr1:120092324-120092325	A549	lung:	n/a	n/a
15	CTCF	chr1:120125580-120125730	HCFaa	heart:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
16	CTCF	chr1:120125452-120125688	ECC-1	luminal epithelium:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
17	CTCF	chr1:120092360-120092510	AG10803	skin:	n/a	chr1:120092432-120092450 chr1:120092433-120092449 chr1:120092434-120092455
18	CTCF	chr1:120112986-120113104	Lung_OC	lung:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
19	CTCF	chr1:120112930-120113222	K562	blood:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
20	CTCF	chr1:120092326-120092573	A549	lung:	n/a	chr1:120092432-120092450 chr1:120092433-120092449 chr1:120092434-120092455
21	CTCF	chr1:120092254-120092531	GM13976	blood:	n/a	chr1:120092432-120092450 chr1:120092433-120092449 chr1:120092434-120092455
22	CTCF	chr1:120092400-120092550	GM12872	blood:	n/a	chr1:120092432-120092450 chr1:120092433-120092449 chr1:120092434-120092455
23	CTCF	chr1:120097080-120097230	HBMEC	blood vessel:	n/a	chr1:120097100-120097109
24	CTCF	chr1:120092400-120092550	HEEpiC	esophagus:	n/a	chr1:120092432-120092450 chr1:120092433-120092449 chr1:120092434-120092455
25	CTCF	chr1:120092362-120092678	MCF-7	breast:	n/a	chr1:120092432-120092450 chr1:120092433-120092449 chr1:120092434-120092455
26	CTCF	chr1:120125600-120125750	HCT-116	colon:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
27	CTCF	chr1:120092253-120092537	HepG2	liver:	n/a	chr1:120092432-120092450 chr1:120092433-120092449 chr1:120092434-120092455
28	CTCF	chr1:120092400-120092550	AG10803	skin:	n/a	chr1:120092432-120092450 chr1:120092433-120092449 chr1:120092434-120092455
29	CTCF	chr1:120125560-120125710	GM06990	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
30	CTCF	chr1:120125443-120125730	HepG2	liver:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
31	CTCF	chr1:120112920-120113070	HFF	foreskin:	n/a	n/a
32	CTCF	chr1:120125540-120125690	GM12878	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
33	CTCF	chr1:120092300-120092450	HPF	lung:	n/a	chr1:120092432-120092450 chr1:120092433-120092449
34	CTCF	chr1:120092380-120092530	GM12866	blood:	n/a	chr1:120092432-120092450 chr1:120092433-120092449 chr1:120092434-120092455
35	CTCF	chr1:120125600-120125750	GM12873	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
36	CTCF	chr1:120125560-120125710	HBMEC	blood vessel:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
37	CTCF	chr1:120112951-120113216	Gliobla	brain:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
38	CTCF	chr1:120091700-120091850	HPAF	blood vessel:	n/a	n/a
39	CTCF	chr1:120092310-120092551	MCF-7	breast:	n/a	chr1:120092432-120092450 chr1:120092433-120092449 chr1:120092434-120092455
40	CTCF	chr1:120092400-120092550	GM12869	blood:	n/a	chr1:120092432-120092450 chr1:120092433-120092449 chr1:120092434-120092455
41	CTCF	chr1:120125520-120125670	GM12801	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
42	CTCF	chr1:120092380-120092530	NB4	blood:	n/a	chr1:120092432-120092450 chr1:120092433-120092449 chr1:120092434-120092455
43	CTCF	chr1:120112942-120113208	GM19240	blood:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
44	CTCF	chr1:120092360-120092510	HCFaa	heart:	n/a	chr1:120092432-120092450 chr1:120092433-120092449 chr1:120092434-120092455
45	CTCF	chr1:120092172-120092642	A549	lung:	n/a	chr1:120092432-120092450 chr1:120092433-120092449 chr1:120092434-120092455
46	CTCF	chr1:120125660-120125810	HAc	cerebellar:	n/a	n/a
47	CTCF	chr1:120092360-120092510	GM06990	blood:	n/a	chr1:120092432-120092450 chr1:120092433-120092449 chr1:120092434-120092455
48	CTCF	chr1:120112900-120113050	AoAF	blood vessel:	n/a	n/a
49	CTCF	chr1:120112880-120113030	HPF	lung:	n/a	n/a
50	CTCF	chr1:120112982-120113171	Kidney_OC	kidney:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099

No.	Distal block	Cell Line	Cell type
1	chr1:120090713..120092396-chr1:120094225..120096675,2	MCF-7	breast:
2	chr1:120091994..120092796-chr1:120217663..120218739,3	K562	blood:
3	chr1:120125219..120126121-chr1:120153919..120154547,2	MCF-7	breast:
4	chr1:120092305..120093953-chr1:120095014..120096664,2	MCF-7	breast:
5	chr1:120090713..120092396-chr1:120094225..120096675,2	MCF-7	breast:
6	chr1:120091982..120092950-chr1:120156090..120157044,3	MCF-7	breast:
7	chr1:120091982..120092921-chr1:120150180..120150935,3	MCF-7	breast:
8	chr1:120092305..120093953-chr1:120095014..120096664,2	MCF-7	breast:
9	chr1:120125200..120126107-chr1:120217588..120218409,3	K562	blood:

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: 1518 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1518 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10802112	chr1:120091434-120091435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189217053	chr1:120091454-120091455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78747648	chr1:120091463-120091464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370408979	chr1:120091472-120091473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75145046	chr1:120091499-120091500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115708548	chr1:120091517-120091518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189535739	chr1:120091525-120091526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138875866	chr1:120091527-120091528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs587761253	chr1:120091531-120091532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs587629061	chr1:120091534-120091535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141325837	chr1:120091547-120091548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143730217	chr1:120091560-120091561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377521128	chr1:120091601-120091602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4659197	chr1:120091616-120091617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375162078	chr1:120091652-120091653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368382782	chr1:120091689-120091690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs587612899	chr1:120091702-120091703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182273196	chr1:120091737-120091738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28510068	chr1:120091748-120091749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs57062846	chr1:120091773-120091774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186887054	chr1:120091793-120091794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113406935	chr1:120091837-120091838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111922777	chr1:120091855-120091856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191621846	chr1:120091873-120091874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115854525	chr1:120091897-120091898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148108464	chr1:120091935-120091936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs587717567	chr1:120091939-120091940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141878172	chr1:120091974-120091975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114891631	chr1:120091998-120091999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150619170	chr1:120092012-120092013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs587682029	chr1:120092043-120092044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185005755	chr1:120092086-120092087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs587638241	chr1:120092096-120092097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188372166	chr1:120092104-120092105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193197980	chr1:120092133-120092134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs587657341	chr1:120092135-120092136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs587716221	chr1:120092142-120092143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185411637	chr1:120092156-120092157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371898353	chr1:120092165-120092166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs587635269	chr1:120092167-120092168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs587721208	chr1:120092194-120092195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs587598545	chr1:120092231-120092232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs587660907	chr1:120092248-120092249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190637019	chr1:120092253-120092254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs587615072	chr1:120092254-120092255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113785945	chr1:120092283-120092284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112300176	chr1:120092288-120092289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs587645645	chr1:120092316-120092317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs587676568	chr1:120092329-120092330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs587739481	chr1:120092339-120092340	Weak transcription	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:265 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120082800-120096000	Weak transcription	Lung	lung
2	chr1:120084200-120095000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:120085600-120092600	Weak transcription	Ovary	ovary
4	chr1:120087000-120092400	Weak transcription	Pancreas	Pancrea
5	chr1:120090800-120092400	Weak transcription	Placenta	Placenta
6	chr1:120092400-120092800	Enhancers	Fetal Muscle Trunk	muscle
7	chr1:120092400-120092800	Enhancers	Placenta	Placenta
8	chr1:120092400-120093600	Enhancers	Fetal Muscle Leg	muscle
9	chr1:120092400-120096000	Weak transcription	Fetal Heart	heart
10	chr1:120092400-120097000	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr1:120092400-120097200	Enhancers	Pancreas	Pancrea
12	chr1:120092600-120093000	Enhancers	Ovary	ovary
13	chr1:120092600-120094000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:120092600-120097800	Enhancers	Fetal Lung	lung
15	chr1:120092800-120093800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr1:120092800-120094200	Weak transcription	Placenta	Placenta
17	chr1:120092800-120116600	Weak transcription	Spleen	Spleen
18	chr1:120093000-120096000	Weak transcription	Ovary	ovary
19	chr1:120093600-120093800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:120093600-120094200	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr1:120093800-120094400	Enhancers	Fetal Muscle Trunk	muscle
22	chr1:120093800-120096400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:120094000-120094400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr1:120094200-120094600	Bivalent Enhancer	HSMMtube	muscle
25	chr1:120094200-120097000	Enhancers	Placenta	Placenta
26	chr1:120094200-120098000	Enhancers	Fetal Muscle Leg	muscle
27	chr1:120094400-120095000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr1:120094400-120095400	Enhancers	Primary B cells from peripheral blood	blood
29	chr1:120094400-120095800	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr1:120094400-120098000	Enhancers	Fetal Intestine Large	intestine
31	chr1:120094600-120095000	Bivalent Enhancer	HSMM	muscle
32	chr1:120094800-120098000	Enhancers	Fetal Intestine Small	intestine
33	chr1:120094800-120098800	Enhancers	HSMMtube	muscle
34	chr1:120095000-120095600	Enhancers	Fetal Muscle Trunk	muscle
35	chr1:120095000-120096400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:120095000-120097200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:120095000-120098000	Enhancers	HSMM	muscle
38	chr1:120095200-120096800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:120095400-120095800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr1:120095600-120096400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr1:120095600-120097400	Enhancers	HMEC	breast
42	chr1:120095800-120097200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:120095800-120097200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr1:120095800-120099000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr1:120096000-120096400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:120096000-120096800	Enhancers	HUVEC	blood vessel
47	chr1:120096000-120097200	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr1:120096000-120097200	Enhancers	Brain Germinal Matrix	brain
49	chr1:120096000-120097200	Enhancers	Lung	lung
50	chr1:120096000-120097200	Enhancers	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links