Variant report

Variant	esv2600511
Chromosome Location	chr1:120101844-120140670
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	chr1:120112658-120112932	K562	blood:	n/a	chr1:120112801-120112814
7	CEBPB	chr1:120112719-120112961	K562	blood:	n/a	chr1:120112801-120112814
8	CEBPB	chr1:120123093-120123321	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr1:120107417-120107689	HepG2	liver:	n/a	chr1:120107566-120107577 chr1:120107585-120107598
10	CEBPB	chr1:120107540-120107630	K562	blood:	n/a	chr1:120107566-120107577 chr1:120107585-120107598
11	CTCF	chr1:120112900-120113050	GM12875	blood:	n/a	n/a
12	CTCF	chr1:120125540-120125690	BJ	skin:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
13	CTCF	chr1:120125547-120125722	MCF-7	breast:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
14	CTCF	chr1:120125560-120125710	HCPEpiC	choroid plexus:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
15	CTCF	chr1:120125540-120125690	WI-38	lung:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
16	CTCF	chr1:120125560-120125710	AG09319	gingival:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
17	CTCF	chr1:120112939-120113223	GM12891	blood:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
18	CTCF	chr1:120125528-120125716	Pancreas_OC	pancreas:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
19	CTCF	chr1:120112900-120113050	AG09319	gingival:	n/a	n/a
20	CTCF	chr1:120125394-120125831	MCF-7	breast:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
21	CTCF	chr1:120125600-120125750	GM12866	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
22	CTCF	chr1:120125433-120125813	K562	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
23	CTCF	chr1:120125500-120125650	GM12867	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
24	CTCF	chr1:120125560-120125710	AG10803	skin:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
25	CTCF	chr1:120125500-120125650	GM12871	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
26	CTCF	chr1:120125560-120125710	RPTEC	kidney:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
27	CTCF	chr1:120125520-120125670	NHEK	skin:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
28	CTCF	chr1:120112986-120113104	Lung_OC	lung:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
29	CTCF	chr1:120125536-120125697	A549	lung:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
30	CTCF	chr1:120125507-120125785	A549	lung:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
31	CTCF	chr1:120128934-120128965	GM13976	blood:	n/a	n/a
32	CTCF	chr1:120112970-120113184	GM10248	blood:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
33	CTCF	chr1:120125529-120125735	GM12892	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
34	CTCF	chr1:120125543-120125690	GM10248	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
35	CTCF	chr1:120112949-120113249	GM12878	blood:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
36	CTCF	chr1:120112942-120113208	GM19240	blood:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
37	CTCF	chr1:120123434-120123473	GM12878	blood:	n/a	n/a
38	CTCF	chr1:120125540-120125690	GM12873	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
39	CTCF	chr1:120112945-120113204	MCF-7	breast:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
40	CTCF	chr1:120112949-120113220	MCF-7	breast:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
41	CTCF	chr1:120125528-120125710	SK-N-SH_RA	brain:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
42	CTCF	chr1:120112880-120113030	GM12867	blood:	n/a	n/a
43	CTCF	chr1:120125560-120125710	GM12872	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
44	CTCF	chr1:120112964-120113208	Medullo	brain:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
45	CTCF	chr1:120125560-120125710	AG04449	skin:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
46	CTCF	chr1:120125443-120125730	HepG2	liver:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
47	CTCF	chr1:120125474-120125833	H1-hESC	embryonic stem cell:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
48	CTCF	chr1:120125520-120125670	AoAF	blood vessel:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
49	CTCF	chr1:120125580-120125730	GM12874	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
50	CTCF	chr1:120125500-120125750	HUVEC	blood vessel:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638

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
2	lnc-ZNF697-1	chr1:120140325-120141914	NONHSAT005570
3	lnc-ZNF697-1	chr1:120140325-120141894	ENSG00000260941.1

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: 1705 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1705 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587688044	chr1:120101865-120101866	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs587764660	chr1:120101954-120101955	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs185854403	chr1:120101962-120101963	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs146715608	chr1:120101968-120101969	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs190475764	chr1:120101981-120101982	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs183047507	chr1:120102001-120102002	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs116628217	chr1:120102022-120102023	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs587768981	chr1:120102048-120102049	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs587641359	chr1:120102067-120102068	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs587705957	chr1:120102089-120102090	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs79732498	chr1:120102105-120102106	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs587638582	chr1:120102113-120102114	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs61332695	chr1:120102115-120102116	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs587597395	chr1:120102130-120102131	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs115080282	chr1:120102140-120102141	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs587609008	chr1:120102141-120102142	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs587659669	chr1:120102161-120102162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76821934	chr1:120102172-120102173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs587641870	chr1:120102173-120102174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73003166	chr1:120102185-120102186	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs111602536	chr1:120102213-120102214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370205888	chr1:120102216-120102217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187754416	chr1:120102225-120102226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs587692365	chr1:120102270-120102271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs587744433	chr1:120102294-120102295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs587626158	chr1:120102313-120102314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs587683652	chr1:120102327-120102328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs587765975	chr1:120102381-120102382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs587638822	chr1:120102397-120102398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs587720683	chr1:120102448-120102449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374464564	chr1:120102449-120102450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs193238489	chr1:120102452-120102453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184012612	chr1:120102501-120102502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs17023741	chr1:120102545-120102546	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs375114119	chr1:120102567-120102568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140613755	chr1:120102617-120102618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs587744191	chr1:120102628-120102629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376453108	chr1:120102698-120102699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs587678554	chr1:120102746-120102747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs587619384	chr1:120102828-120102829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144239857	chr1:120102879-120102880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11484963	chr1:120102939-120102940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187859231	chr1:120102940-120102941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368389912	chr1:120102994-120102995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs587727206	chr1:120103051-120103052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs587618944	chr1:120103149-120103150	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs587683932	chr1:120103155-120103156	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs371948893	chr1:120103177-120103178	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs192494375	chr1:120103227-120103228	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs1059009	chr1:120103233-120103234	Weak transcription Enhancers	TF binding region	2 gene(s)	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:276 , 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	chr1:120097000-120105400	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	chr1:120100600-120102200	Enhancers	Ovary	ovary
6	chr1:120100800-120105000	Weak transcription	Fetal Lung	lung
7	chr1:120102200-120105400	Weak transcription	Ovary	ovary
8	chr1:120103200-120103400	Enhancers	GM12878-XiMat	blood
9	chr1:120103400-120106600	Weak transcription	GM12878-XiMat	blood
10	chr1:120104000-120104200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:120104200-120105400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:120105000-120108000	Enhancers	Fetal Lung	lung
13	chr1:120105000-120108800	Enhancers	Fetal Intestine Large	intestine
14	chr1:120105200-120105800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:120105200-120108600	Enhancers	Fetal Intestine Small	intestine
16	chr1:120105400-120105800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:120105400-120105800	Enhancers	Placenta	Placenta
18	chr1:120105400-120106800	Enhancers	Ovary	ovary
19	chr1:120105600-120106400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:120105800-120106800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:120105800-120106800	Weak transcription	Placenta	Placenta
22	chr1:120106200-120106800	Enhancers	Fetal Stomach	stomach
23	chr1:120106200-120107200	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr1:120106200-120107400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr1:120106600-120106800	Enhancers	Lung	lung
26	chr1:120106600-120106800	Enhancers	Right Atrium	heart
27	chr1:120106600-120107400	Enhancers	GM12878-XiMat	blood
28	chr1:120106800-120107000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:120106800-120107600	Weak transcription	Right Atrium	heart
30	chr1:120106800-120108600	Weak transcription	Ovary	ovary
31	chr1:120106800-120111600	Weak transcription	Lung	lung
32	chr1:120106800-120112400	Enhancers	Placenta	Placenta
33	chr1:120107000-120107400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:120107000-120107600	Enhancers	Primary hematopoietic stem cells	blood
35	chr1:120107000-120109200	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr1:120107000-120109200	Enhancers	Primary B cells from peripheral blood	blood
37	chr1:120107200-120108600	Enhancers	Primary B cells from cord blood	blood
38	chr1:120107200-120108600	Enhancers	Brain Substantia Nigra	brain
39	chr1:120107200-120110000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr1:120107200-120110600	Enhancers	HMEC	breast
41	chr1:120107400-120107800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr1:120107400-120107800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:120107400-120108000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:120107400-120108200	Flanking Active TSS	GM12878-XiMat	blood
45	chr1:120107400-120108600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:120107400-120108600	Enhancers	Brain Cingulate Gyrus	brain
47	chr1:120107400-120108800	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr1:120107400-120108800	Enhancers	Brain Hippocampus Middle	brain
49	chr1:120107400-120109400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:120107400-120109600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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