Variant report

Variant	esv3407721
Chromosome Location	chr1:120103335-120140798
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	chr1:120123093-120123321	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr1:120107540-120107630	K562	blood:	n/a	chr1:120107566-120107577 chr1:120107585-120107598
9	CEBPB	chr1:120112719-120112961	K562	blood:	n/a	chr1:120112801-120112814
10	CEBPB	chr1:120107417-120107689	HepG2	liver:	n/a	chr1:120107566-120107577 chr1:120107585-120107598
11	CTCF	chr1:120112969-120113164	GM13976	blood:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
12	CTCF	chr1:120125840-120125990	WERI-Rb-1	eye:	n/a	n/a
13	CTCF	chr1:120125500-120125650	GM12871	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
14	CTCF	chr1:120125580-120125730	BJ	skin:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
15	CTCF	chr1:120125560-120125710	HPF	lung:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
16	CTCF	chr1:120125540-120125690	WI-38	lung:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
17	CTCF	chr1:120125560-120125710	GM12868	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
18	CTCF	chr1:120112970-120113184	GM10248	blood:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
19	CTCF	chr1:120125560-120125710	NHLF	lung:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
20	CTCF	chr1:120125502-120125797	SK-N-SH_RA	brain:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
21	CTCF	chr1:120125560-120125710	NHEK	skin:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
22	CTCF	chr1:120112900-120113050	HCPEpiC	choroid plexus:	n/a	n/a
23	CTCF	chr1:120125580-120125730	Hela-S3	cervix:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
24	CTCF	chr1:120125560-120125710	BE2_C	brain:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
25	CTCF	chr1:120125488-120125733	LNCaP	prostate:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
26	CTCF	chr1:120125517-120125747	HepG2	liver:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
27	CTCF	chr1:120112943-120113202	MCF-7	breast:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
28	CTCF	chr1:120112942-120113208	GM19240	blood:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
29	CTCF	chr1:120112949-120113085	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr1:120112880-120113030	HA-sp	spinal cord:	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	chr1:120125560-120125710	HCPEpiC	choroid plexus:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
33	CTCF	chr1:120125820-120125970	GM12864	blood:	n/a	n/a
34	CTCF	chr1:120125560-120125710	HMEC	breast:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
35	CTCF	chr1:120125580-120125730	HAc	cerebellar:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
36	CTCF	chr1:120125507-120125785	A549	lung:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
37	CTCF	chr1:120112964-120113194	ProgFib	skin:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
38	CTCF	chr1:120125535-120125679	GM13977	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
39	CTCF	chr1:120125532-120125689	Spleen_OC	spleen:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
40	CTCF	chr1:120112942-120113235	GM19238	blood:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
41	CTCF	chr1:120112900-120113299	K562	blood:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
42	CTCF	chr1:120125540-120125690	GM12878	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
43	CTCF	chr1:120125503-120125747	NHEK	skin:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
44	CTCF	chr1:120125541-120125710	GM19239	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
45	CTCF	chr1:120112989-120113061	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr1:120125540-120125690	AG09319	gingival:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
47	CTCF	chr1:120112900-120113050	AG04450	lung:	n/a	n/a
48	CTCF	chr1:120112880-120113030	GM12870	blood:	n/a	n/a
49	CTCF	chr1:120125540-120125690	HPAF	blood vessel:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
50	CTCF	chr1:120125620-120125770	GM12871	blood:	n/a	n/a

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

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: 1656 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1656 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146816755	chr1:120103342-120103343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs587666156	chr1:120103348-120103349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs587735585	chr1:120103355-120103356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183843555	chr1:120103366-120103367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11484965	chr1:120103371-120103372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188569211	chr1:120103374-120103375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1853046	chr1:120103377-120103378	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs587595545	chr1:120103448-120103449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76005487	chr1:120103485-120103486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191987198	chr1:120103505-120103506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs587607613	chr1:120103508-120103509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs587663362	chr1:120103583-120103584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs587744816	chr1:120103702-120103703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147378056	chr1:120103709-120103710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184381760	chr1:120103718-120103719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147992372	chr1:120103749-120103750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190114835	chr1:120103808-120103809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs587688456	chr1:120103815-120103816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs587764891	chr1:120103834-120103835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs587666223	chr1:120103851-120103852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182286844	chr1:120103855-120103856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs587773506	chr1:120103856-120103857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs587656212	chr1:120103859-120103860	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs587711698	chr1:120103876-120103877	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs587596119	chr1:120103888-120103889	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs199576028	chr1:120103947-120103948	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs587706698	chr1:120103973-120103974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs587608219	chr1:120103974-120103975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200566115	chr1:120103992-120103993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150501899	chr1:120104032-120104033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs587744966	chr1:120104044-120104045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs587601322	chr1:120104082-120104083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs587677841	chr1:120104120-120104121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs400975	chr1:120104160-120104161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs587730195	chr1:120104192-120104193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs587634057	chr1:120104196-120104197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs587685361	chr1:120104208-120104209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs587747770	chr1:120104309-120104310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139366541	chr1:120104318-120104319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199786484	chr1:120104326-120104327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139299130	chr1:120104347-120104348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs587702959	chr1:120104348-120104349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs587773904	chr1:120104369-120104370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs587635513	chr1:120104373-120104374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375293457	chr1:120104385-120104386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs587694415	chr1:120104414-120104415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs587748336	chr1:120104419-120104420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76656208	chr1:120104430-120104431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs587703558	chr1:120104527-120104528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs587767777	chr1:120104544-120104545	Weak transcription	n/a	n/a	Overlapped CNVs	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:275 , 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	chr1:120100800-120105000	Weak transcription	Fetal Lung	lung
6	chr1:120102200-120105400	Weak transcription	Ovary	ovary
7	chr1:120103200-120103400	Enhancers	GM12878-XiMat	blood
8	chr1:120103400-120106600	Weak transcription	GM12878-XiMat	blood
9	chr1:120104000-120104200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:120104200-120105400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:120105000-120108000	Enhancers	Fetal Lung	lung
12	chr1:120105000-120108800	Enhancers	Fetal Intestine Large	intestine
13	chr1:120105200-120105800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:120105200-120108600	Enhancers	Fetal Intestine Small	intestine
15	chr1:120105400-120105800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:120105400-120105800	Enhancers	Placenta	Placenta
17	chr1:120105400-120106800	Enhancers	Ovary	ovary
18	chr1:120105600-120106400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:120105800-120106800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:120105800-120106800	Weak transcription	Placenta	Placenta
21	chr1:120106200-120106800	Enhancers	Fetal Stomach	stomach
22	chr1:120106200-120107200	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr1:120106200-120107400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr1:120106600-120106800	Enhancers	Lung	lung
25	chr1:120106600-120106800	Enhancers	Right Atrium	heart
26	chr1:120106600-120107400	Enhancers	GM12878-XiMat	blood
27	chr1:120106800-120107000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:120106800-120107600	Weak transcription	Right Atrium	heart
29	chr1:120106800-120108600	Weak transcription	Ovary	ovary
30	chr1:120106800-120111600	Weak transcription	Lung	lung
31	chr1:120106800-120112400	Enhancers	Placenta	Placenta
32	chr1:120107000-120107400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:120107000-120107600	Enhancers	Primary hematopoietic stem cells	blood
34	chr1:120107000-120109200	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr1:120107000-120109200	Enhancers	Primary B cells from peripheral blood	blood
36	chr1:120107200-120108600	Enhancers	Primary B cells from cord blood	blood
37	chr1:120107200-120108600	Enhancers	Brain Substantia Nigra	brain
38	chr1:120107200-120110000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr1:120107200-120110600	Enhancers	HMEC	breast
40	chr1:120107400-120107800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
41	chr1:120107400-120107800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:120107400-120108000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:120107400-120108200	Flanking Active TSS	GM12878-XiMat	blood
44	chr1:120107400-120108600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:120107400-120108600	Enhancers	Brain Cingulate Gyrus	brain
46	chr1:120107400-120108800	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr1:120107400-120108800	Enhancers	Brain Hippocampus Middle	brain
48	chr1:120107400-120109400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:120107400-120109600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:120107400-120110600	Enhancers	NHEK	skin

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