Variant report

Variant	nsv1003595
Chromosome Location	chr1:120110499-120140011
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	BRCA1	chr1:120125543-120125709	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr1:120112658-120112932	K562	blood:	n/a	chr1:120112801-120112814
4	CEBPB	chr1:120112719-120112961	K562	blood:	n/a	chr1:120112801-120112814
5	CEBPB	chr1:120123093-120123321	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr1:120125540-120125690	WERI-Rb-1	eye:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
7	CTCF	chr1:120125520-120125670	GM12872	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
8	CTCF	chr1:120123434-120123473	GM12878	blood:	n/a	n/a
9	CTCF	chr1:120125600-120125750	HFF-Myc	foreskin:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
10	CTCF	chr1:120125500-120125730	K562	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
11	CTCF	chr1:120125540-120125690	AG09319	gingival:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
12	CTCF	chr1:120112920-120113070	GM12870	blood:	n/a	n/a
13	CTCF	chr1:120125540-120125690	GM12869	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
14	CTCF	chr1:120112964-120113208	Medullo	brain:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
15	CTCF	chr1:120125236-120125917	SK-N-SH	brain:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
16	CTCF	chr1:120112972-120113135	A549	lung:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
17	CTCF	chr1:120112900-120113299	K562	blood:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
18	CTCF	chr1:120112935-120113098	H1-hESC	embryonic stem cell:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094
19	CTCF	chr1:120112900-120113050	HMEC	breast:	n/a	n/a
20	CTCF	chr1:120125560-120125710	HVMF	connective:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
21	CTCF	chr1:120112900-120113050	GM12866	blood:	n/a	n/a
22	CTCF	chr1:120123439-120123494	GM19240	blood:	n/a	n/a
23	CTCF	chr1:120125536-120125697	A549	lung:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
24	CTCF	chr1:120112900-120113050	GM12878	blood:	n/a	n/a
25	CTCF	chr1:120125500-120125650	GM12871	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
26	CTCF	chr1:120125560-120125710	Hela-S3	cervix:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
27	CTCF	chr1:120125540-120125690	GM12864	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
28	CTCF	chr1:120112900-120113050	HRPEpiC	eye:	n/a	n/a
29	CTCF	chr1:120112900-120113050	HCPEpiC	choroid plexus:	n/a	n/a
30	CTCF	chr1:120125560-120125710	HRPEpiC	eye:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
31	CTCF	chr1:120112945-120113210	GM12892	blood:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
32	CTCF	chr1:120125560-120125710	GM12870	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
33	CTCF	chr1:120112955-120113100	H1-hESC	embryonic stem cell:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
34	CTCF	chr1:120125500-120125650	HEK293	kidney:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
35	CTCF	chr1:120125560-120125710	HEK293	kidney:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
36	CTCF	chr1:120112900-120113050	GM12874	blood:	n/a	n/a
37	CTCF	chr1:120125540-120125690	NB4	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
38	CTCF	chr1:120125560-120125710	HFF	foreskin:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
39	CTCF	chr1:120125431-120125805	GM12878	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
40	CTCF	chr1:120125500-120125750	HUVEC	blood vessel:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
41	CTCF	chr1:120112982-120113171	Kidney_OC	kidney:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
42	CTCF	chr1:120112920-120113070	HVMF	connective:	n/a	n/a
43	CTCF	chr1:120112969-120113164	GM13976	blood:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
44	CTCF	chr1:120125580-120125730	HCFaa	heart:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
45	CTCF	chr1:120125509-120125738	K562	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
46	CTCF	chr1:120112964-120113194	ProgFib	skin:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
47	CTCF	chr1:120125560-120125710	Caco-2	colon:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
48	CTCF	chr1:120125560-120125710	AG10803	skin:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
49	CTCF	chr1:120112900-120113050	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr1:120125560-120125710	HCPEpiC	choroid plexus:	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

Variant related genes	Relation type
HSD3BP4	TF binding region
GAPDHP33	TF binding region
HSD3BP5	TF binding region

Extended variants
information (count: 1370 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1370 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587645755	chr1:120110539-120110540	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs587723692	chr1:120110573-120110574	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs587757224	chr1:120110586-120110587	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs187254960	chr1:120110599-120110600	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs587688126	chr1:120110664-120110665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12745167	chr1:120110685-120110686	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs190937833	chr1:120110695-120110696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12745178	chr1:120110708-120110709	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs139909616	chr1:120110711-120110712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs587755634	chr1:120110712-120110713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149818923	chr1:120110724-120110725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs71485804	chr1:120110725-120110726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12746441	chr1:120110726-120110727	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs375796313	chr1:120110732-120110733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370231537	chr1:120110733-120110734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374122525	chr1:120110734-120110735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376570075	chr1:120110738-120110739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189906372	chr1:120110739-120110740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs71519736	chr1:120110742-120110743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12727820	chr1:120110747-120110748	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs12731874	chr1:120110755-120110756	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs12746459	chr1:120110768-120110769	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs372058063	chr1:120110771-120110772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12727832	chr1:120110774-120110775	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs371485564	chr1:120110779-120110780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs71519738	chr1:120110781-120110782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368575847	chr1:120110783-120110784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs587697916	chr1:120110847-120110848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs587755902	chr1:120110869-120110870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115089960	chr1:120110911-120110912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs587673802	chr1:120110917-120110918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115910027	chr1:120110919-120110920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs587650976	chr1:120110920-120110921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs587684261	chr1:120110924-120110925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182500690	chr1:120110955-120110956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10802113	chr1:120111002-120111003	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs368503144	chr1:120111034-120111035	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs587730777	chr1:120111082-120111083	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs587709898	chr1:120111096-120111097	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs188023599	chr1:120111107-120111108	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs587666365	chr1:120111134-120111135	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs193019449	chr1:120111161-120111162	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs587621193	chr1:120111191-120111192	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs587669931	chr1:120111196-120111197	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs113263264	chr1:120111200-120111201	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs371590874	chr1:120111211-120111212	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs374275870	chr1:120111214-120111215	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs368385272	chr1:120111219-120111220	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs12032931	chr1:120111235-120111236	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs587742947	chr1:120111242-120111243	Weak transcription Enhancers Flanking Active TSS	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:217 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120092800-120116600	Weak transcription	Spleen	Spleen
2	chr1:120106800-120111600	Weak transcription	Lung	lung
3	chr1:120106800-120112400	Enhancers	Placenta	Placenta
4	chr1:120107200-120110600	Enhancers	HMEC	breast
5	chr1:120107400-120110600	Enhancers	NHEK	skin
6	chr1:120107600-120111400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:120107800-120111200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:120107800-120111600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:120108000-120111200	Weak transcription	Fetal Lung	lung
10	chr1:120108000-120111600	Weak transcription	Right Atrium	heart
11	chr1:120108600-120111200	Weak transcription	Primary B cells from cord blood	blood
12	chr1:120108800-120111000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:120108800-120111800	Weak transcription	Ovary	ovary
14	chr1:120109200-120111400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr1:120109200-120111400	Weak transcription	GM12878-XiMat	blood
16	chr1:120109600-120117200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:120110400-120110600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:120110400-120110600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr1:120110400-120111400	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr1:120110400-120111600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:120110400-120112800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:120110600-120111000	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr1:120110600-120111600	Weak transcription	NHEK	skin
24	chr1:120111000-120112400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr1:120111000-120112400	Enhancers	Fetal Thymus	thymus
26	chr1:120111000-120112800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr1:120111200-120112000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:120111200-120112400	Enhancers	Primary B cells from cord blood	blood
29	chr1:120111200-120112600	Enhancers	Fetal Lung	lung
30	chr1:120111400-120112000	Enhancers	Primary B cells from peripheral blood	blood
31	chr1:120111400-120112200	Enhancers	Adipose Nuclei	Adipose
32	chr1:120111400-120112200	Enhancers	Placenta Amnion	Placenta Amnion
33	chr1:120111400-120112400	Enhancers	Primary hematopoietic stem cells	blood
34	chr1:120111400-120112400	Enhancers	GM12878-XiMat	blood
35	chr1:120111400-120112800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr1:120111600-120111800	Enhancers	Left Ventricle	heart
37	chr1:120111600-120111800	Enhancers	NHEK	skin
38	chr1:120111600-120112000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
39	chr1:120111600-120112000	Enhancers	Fetal Muscle Trunk	muscle
40	chr1:120111600-120112000	Enhancers	Lung	lung
41	chr1:120111600-120112000	Enhancers	Right Atrium	heart
42	chr1:120111600-120112200	Enhancers	Fetal Muscle Leg	muscle
43	chr1:120111600-120112400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:120111600-120112400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:120111800-120112000	Enhancers	Ovary	ovary
46	chr1:120111800-120129800	Weak transcription	Left Ventricle	heart
47	chr1:120112000-120112600	Enhancers	HUVEC	blood vessel
48	chr1:120112000-120114000	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr1:120112000-120116400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:120112000-120129600	Weak transcription	Right Atrium	heart

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