Variant report

Variant	nsv946191
Chromosome Location	chr1:120617494-120696675
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	ARID3A	chr1:120688541-120688741	K562	blood:	n/a	n/a
2	ARID3A	chr1:120688393-120688593	HepG2	liver:	n/a	n/a
3	ATF1	chr1:120688395-120688588	K562	blood:	n/a	n/a
4	BATF	chr1:120664789-120665384	GM12878	blood:	n/a	n/a
5	BATF	chr1:120659836-120660635	GM12878	blood:	n/a	n/a
6	BATF	chr1:120692171-120692558	GM12878	blood:	n/a	n/a
7	BATF	chr1:120666351-120666651	GM12878	blood:	n/a	n/a
8	BATF	chr1:120665653-120665859	GM12878	blood:	n/a	chr1:120665799-120665807
9	BATF	chr1:120630584-120630904	GM12878	blood:	n/a	n/a
10	BATF	chr1:120692197-120692553	GM12878	blood:	n/a	n/a
11	BATF	chr1:120623707-120624030	GM12878	blood:	n/a	n/a
12	BATF	chr1:120659829-120660651	GM12878	blood:	n/a	n/a
13	BATF	chr1:120686713-120687012	GM12878	blood:	n/a	n/a
14	BATF	chr1:120685303-120685789	GM12878	blood:	n/a	n/a
15	BATF	chr1:120666326-120666799	GM12878	blood:	n/a	n/a
16	BATF	chr1:120647892-120648169	GM12878	blood:	n/a	n/a
17	BATF	chr1:120664375-120665407	GM12878	blood:	n/a	n/a
18	BATF	chr1:120664423-120664787	GM12878	blood:	n/a	n/a
19	BATF	chr1:120685180-120685832	GM12878	blood:	n/a	n/a
20	BCL11A	chr1:120665116-120665397	GM12878	blood:	n/a	n/a
21	BCL11A	chr1:120660435-120660597	GM12878	blood:	n/a	n/a
22	BCL11A	chr1:120674480-120674736	GM12878	blood:	n/a	n/a
23	BCL11A	chr1:120685242-120685825	GM12878	blood:	n/a	chr1:120685742-120685751
24	BCL11A	chr1:120666411-120666653	GM12878	blood:	n/a	n/a
25	BCL11A	chr1:120659797-120660633	GM12878	blood:	n/a	chr1:120660239-120660248
26	BCL11A	chr1:120666303-120666781	GM12878	blood:	n/a	n/a
27	BCL11A	chr1:120664779-120665397	GM12878	blood:	n/a	n/a
28	BCL11A	chr1:120664393-120664764	GM12878	blood:	n/a	n/a
29	BCL11A	chr1:120685322-120685786	GM12878	blood:	n/a	chr1:120685742-120685751
30	BCL11A	chr1:120659920-120660385	GM12878	blood:	n/a	chr1:120660239-120660248
31	BCL11A	chr1:120664455-120665094	GM12878	blood:	n/a	n/a
32	BCLAF1	chr1:120685430-120685722	GM12878	blood:	n/a	n/a
33	BCLAF1	chr1:120685469-120685698	GM12878	blood:	n/a	n/a
34	BHLHE40	chr1:120688462-120688582	GM12878	blood:	n/a	n/a
35	BHLHE40	chr1:120685445-120685700	GM12878	blood:	n/a	n/a
36	BHLHE40	chr1:120660109-120660288	GM12878	blood:	n/a	n/a
37	BRCA1	chr1:120688569-120688572	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr1:120619540-120619850	K562	blood:	n/a	chr1:120619660-120619671
39	CEBPB	chr1:120617619-120617856	IMR90	lung:	n/a	chr1:120617743-120617754
40	CEBPB	chr1:120660027-120660417	GM12878	blood:	n/a	n/a
41	CEBPB	chr1:120645816-120646057	HepG2	liver:	n/a	chr1:120645892-120645903 chr1:120645893-120645904
42	CEBPB	chr1:120619578-120619734	H1-hESC	embryonic stem cell:	n/a	chr1:120619660-120619671
43	CEBPB	chr1:120645848-120646048	Hela-S3	cervix:	n/a	chr1:120645892-120645903 chr1:120645893-120645904
44	CEBPB	chr1:120688348-120688764	K562	blood:	n/a	n/a
45	CEBPB	chr1:120630691-120630910	IMR90	lung:	n/a	n/a
46	CEBPB	chr1:120645819-120646050	A549	lung:	n/a	chr1:120645892-120645903 chr1:120645893-120645904
47	CEBPB	chr1:120619545-120619730	Hela-S3	cervix:	n/a	chr1:120619660-120619671
48	CEBPB	chr1:120619486-120619844	IMR90	lung:	n/a	chr1:120619660-120619671
49	CEBPB	chr1:120687301-120687524	K562	blood:	n/a	n/a
50	CEBPB	chr1:120688569-120688681	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:120428266..120429110-chr1:120688084..120688752,2	MCF-7	breast:
2	chr1:120691948..120694351-chr1:145121998..145123840,2	K562	blood:
3	chr1:120688084..120688694-chr1:145126764..145127269,2	MCF-7	breast:
4	chr1:120490968..120491810-chr1:120688066..120688661,3	MCF-7	breast:
5	chr1:120413136..120413983-chr1:120688071..120688676,2	MCF-7	breast:
6	chr1:120691335..120693666-chr1:145121579..145124482,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NOTCH2-4	chr1:120693320-120697146	ENSG00000273131.1
2	lnc-FAM72B-9	chr1:120619223-120619698	ENSG00000273406.1
3	lnc-FAM72B-8	chr1:120696205-120697130	NONHSAT005589
4	lnc-NOTCH2-3	chr1:120637309-120637563	expReg_chr1_13425_-
5	lnc-NOTCH2-2	chr1:120617808-120619716	XLOC_000986
6	lnc-FAM72B-8	chr1:120693320-120696076	NONHSAT005589
7	lnc-FAM72B-4	chr1:120637415-120638073	XLOC_000373

Variant related genes	Relation type
RNU6-465P	TF binding region
ENSG00000273406	TF binding region
ENSG00000226446	chromatin interactions

Extended variants
information (count: 2530 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:2530 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587678182	chr1:120617501-120617502	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs587722263	chr1:120617514-120617515	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs587623553	chr1:120617526-120617527	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71832709	chr1:120617562-120617563	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs587678687	chr1:120617595-120617596	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs587760281	chr1:120617597-120617598	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs587637643	chr1:120617657-120617658	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs2794179	chr1:120617665-120617666	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs3909004	chr1:120617700-120617701	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs587729178	chr1:120617720-120617721	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs587621073	chr1:120617730-120617731	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs3880037	chr1:120617770-120617771	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs376573792	chr1:120617788-120617789	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs587698421	chr1:120617825-120617826	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs587755975	chr1:120617864-120617865	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs587655169	chr1:120617913-120617914	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs587689608	chr1:120617951-120617952	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs587770386	chr1:120617985-120617986	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs376832851	chr1:120618036-120618037	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs182200578	chr1:120618062-120618063	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs144009732	chr1:120618076-120618077	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs372879547	chr1:120618101-120618102	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs587720100	chr1:120618111-120618112	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs148752582	chr1:120618116-120618117	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs587759071	chr1:120618142-120618143	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs587641209	chr1:120618170-120618171	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs587727588	chr1:120618182-120618183	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs188039764	chr1:120618227-120618228	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs587623432	chr1:120618259-120618260	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs587682685	chr1:120618289-120618290	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs373945576	chr1:120618340-120618341	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs370205454	chr1:120618341-120618342	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs113799030	chr1:120618358-120618359	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs587739753	chr1:120618408-120618409	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs202120631	chr1:120618451-120618452	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs200445899	chr1:120618458-120618459	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs587615334	chr1:120618502-120618503	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs587673989	chr1:120618507-120618508	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs61787467	chr1:120618529-120618530	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs370199790	chr1:120618554-120618555	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs587740215	chr1:120618672-120618673	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs587619709	chr1:120618814-120618815	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs2604027	chr1:120618838-120618839	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs587671772	chr1:120618929-120618930	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs200463610	chr1:120618978-120618979	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs3866822	chr1:120619018-120619019	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs371128896	chr1:120619049-120619050	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs375291953	chr1:120619081-120619082	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs587634568	chr1:120619157-120619158	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs2799271	chr1:120619161-120619162	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Aetanephric adenomas	20802469	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:761 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120612400-120624000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:120612400-120624200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:120612400-120624200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:120612400-120624200	Weak transcription	Osteobl	bone
5	chr1:120612400-120627800	Weak transcription	Primary B cells from cord blood	blood
6	chr1:120613600-120619000	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr1:120614000-120619400	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr1:120614000-120619600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:120615800-120617600	Strong transcription	Primary B cells from peripheral blood	blood
10	chr1:120617400-120618000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:120617400-120618200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:120617400-120618200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:120617600-120623800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr1:120618200-120624000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:120618200-120625200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:120619000-120620200	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr1:120619400-120619800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:120619600-120619800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:120619800-120621600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr1:120619800-120623800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:120620200-120621400	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr1:120621400-120622000	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr1:120621600-120622000	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr1:120622000-120624000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr1:120622000-120624000	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr1:120623800-120624000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:120623800-120624000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:120623800-120624000	Enhancers	Dnd41	blood
29	chr1:120623800-120624400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:120623800-120624400	Genic enhancers	Primary B cells from peripheral blood	blood
31	chr1:120623800-120624400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:120623800-120624600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr1:120624000-120624200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:120624000-120624400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:120624000-120624400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:120624000-120624400	Enhancers	Primary hematopoietic stem cells	blood
37	chr1:120624000-120624400	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr1:120624000-120624400	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr1:120624000-120624400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr1:120624000-120624400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:120624000-120624400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr1:120624000-120624400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:120624000-120624400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:120624000-120624400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr1:120624000-120624400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:120624000-120624400	Enhancers	Fetal Heart	heart
47	chr1:120624000-120624400	Enhancers	Placenta	Placenta
48	chr1:120624000-120624400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr1:120624000-120624600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:120624000-120624600	Enhancers	Primary T cells from cord blood	blood

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