Variant report

Variant	nsv547626
Chromosome Location	chr1:120651448-120676626
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	BATF	chr1:120666351-120666651	GM12878	blood:	n/a	n/a
2	BATF	chr1:120664789-120665384	GM12878	blood:	n/a	n/a
3	BATF	chr1:120666326-120666799	GM12878	blood:	n/a	n/a
4	BATF	chr1:120664423-120664787	GM12878	blood:	n/a	n/a
5	BATF	chr1:120659836-120660635	GM12878	blood:	n/a	n/a
6	BATF	chr1:120659829-120660651	GM12878	blood:	n/a	n/a
7	BATF	chr1:120664375-120665407	GM12878	blood:	n/a	n/a
8	BATF	chr1:120665653-120665859	GM12878	blood:	n/a	chr1:120665799-120665807
9	BCL11A	chr1:120659920-120660385	GM12878	blood:	n/a	chr1:120660239-120660248
10	BCL11A	chr1:120660435-120660597	GM12878	blood:	n/a	n/a
11	BCL11A	chr1:120666411-120666653	GM12878	blood:	n/a	n/a
12	BCL11A	chr1:120664779-120665397	GM12878	blood:	n/a	n/a
13	BCL11A	chr1:120659797-120660633	GM12878	blood:	n/a	chr1:120660239-120660248
14	BCL11A	chr1:120674480-120674736	GM12878	blood:	n/a	n/a
15	BCL11A	chr1:120664393-120664764	GM12878	blood:	n/a	n/a
16	BCL11A	chr1:120666303-120666781	GM12878	blood:	n/a	n/a
17	BCL11A	chr1:120664455-120665094	GM12878	blood:	n/a	n/a
18	BCL11A	chr1:120665116-120665397	GM12878	blood:	n/a	n/a
19	BHLHE40	chr1:120660109-120660288	GM12878	blood:	n/a	n/a
20	CEBPB	chr1:120660027-120660417	GM12878	blood:	n/a	n/a
21	CTCF	chr1:120662046-120662089	LNCaP	prostate:	n/a	n/a
22	CTCF	chr1:120673300-120673450	AG10803	skin:	n/a	n/a
23	CTCF	chr1:120661860-120662010	GM12874	blood:	n/a	n/a
24	CTCF	chr1:120672100-120672250	GM12870	blood:	n/a	n/a
25	CTCF	chr1:120674920-120675070	AG04450	lung:	n/a	n/a
26	CTCF	chr1:120671860-120672010	HRE	kidney:	n/a	n/a
27	CTCF	chr1:120674940-120675090	HPAF	blood vessel:	n/a	n/a
28	CTCF	chr1:120663094-120663129	Fibrobl	skin:	n/a	n/a
29	EBF1	chr1:120664444-120664724	GM12878	blood:	n/a	n/a
30	EBF1	chr1:120653618-120653884	GM12878	blood:	n/a	n/a
31	EBF1	chr1:120666381-120666650	GM12878	blood:	n/a	n/a
32	EBF1	chr1:120665486-120665701	GM12878	blood:	n/a	n/a
33	EBF1	chr1:120659990-120660564	GM12878	blood:	n/a	n/a
34	EBF1	chr1:120664729-120665396	GM12878	blood:	n/a	n/a
35	EBF1	chr1:120664788-120665097	GM12878	blood:	n/a	n/a
36	EBF1	chr1:120674421-120674810	GM12878	blood:	n/a	n/a
37	EBF1	chr1:120653634-120653887	GM12878	blood:	n/a	n/a
38	EBF1	chr1:120660002-120660390	GM12878	blood:	n/a	n/a
39	EBF1	chr1:120665176-120665383	GM12878	blood:	n/a	n/a
40	EBF1	chr1:120666370-120666777	GM12878	blood:	n/a	n/a
41	EP300	chr1:120666341-120666774	GM12878	blood:	n/a	n/a
42	EP300	chr1:120660009-120660184	SK-N-SH_RA	brain:	n/a	n/a
43	EP300	chr1:120660012-120660186	SK-N-SH_RA	brain:	n/a	n/a
44	EP300	chr1:120664814-120665099	GM12878	blood:	n/a	n/a
45	EP300	chr1:120664474-120664673	GM12878	blood:	n/a	n/a
46	EP300	chr1:120674535-120674728	GM12878	blood:	n/a	n/a
47	EP300	chr1:120659843-120660508	GM12878	blood:	n/a	chr1:120660308-120660318
48	EP300	chr1:120659931-120660312	GM12878	blood:	n/a	n/a
49	EP300	chr1:120666435-120666616	GM12878	blood:	n/a	n/a
50	FOSL2	chr1:120654238-120654778	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
RNU6-465P	TF binding region

Extended variants
information (count: 718 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:718 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587664437	chr1:120651555-120651556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs587725768	chr1:120651576-120651577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs587774048	chr1:120651597-120651598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs587628958	chr1:120651606-120651607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs587715013	chr1:120651682-120651683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs587597619	chr1:120651726-120651727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs587674001	chr1:120651727-120651728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs587701465	chr1:120651777-120651778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112288613	chr1:120651779-120651780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs587607965	chr1:120651782-120651783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182102972	chr1:120651837-120651838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs587746987	chr1:120651838-120651839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs587618496	chr1:120651841-120651842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186048128	chr1:120651884-120651885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs587737089	chr1:120651889-120651890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs587628826	chr1:120651892-120651893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs587688530	chr1:120651905-120651906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367628738	chr1:120652029-120652030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs587775896	chr1:120652041-120652042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs587645933	chr1:120652044-120652045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs587703338	chr1:120652054-120652055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs3124821	chr1:120652055-120652056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs3121203	chr1:120652074-120652075	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs201550721	chr1:120652107-120652108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs587638003	chr1:120652123-120652124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191146518	chr1:120652151-120652152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2793925	chr1:120652158-120652159	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs182942489	chr1:120652172-120652173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs587708446	chr1:120652184-120652185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143707606	chr1:120652199-120652200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs587665135	chr1:120652206-120652207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs587724428	chr1:120652213-120652214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2603843	chr1:120652238-120652239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2603844	chr1:120652244-120652245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149287395	chr1:120652299-120652300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369388944	chr1:120652312-120652313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs56789485	chr1:120652327-120652328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372801733	chr1:120652334-120652335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs587678116	chr1:120652335-120652336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs587730107	chr1:120652379-120652380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs587612367	chr1:120652383-120652384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs587661739	chr1:120652426-120652427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs587748074	chr1:120652439-120652440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114006969	chr1:120652457-120652458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114850280	chr1:120652482-120652483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs587647701	chr1:120652520-120652521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs587703213	chr1:120652567-120652568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs587762571	chr1:120652671-120652672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs587610312	chr1:120652701-120652702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368438415	chr1:120652708-120652709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Breast cancer	22522925	CNVD

Chromatin state (count:212 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120648600-120651600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr1:120648800-120653400	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr1:120651400-120654400	Enhancers	Primary B cells from cord blood	blood
4	chr1:120651600-120657800	Enhancers	Primary B cells from peripheral blood	blood
5	chr1:120653400-120654200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr1:120653400-120654400	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr1:120653600-120653800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:120653600-120654400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:120653800-120663000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:120654000-120654400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:120654000-120654400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:120654000-120654400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:120654000-120654400	Enhancers	Osteobl	bone
14	chr1:120654200-120655000	Enhancers	Fetal Heart	heart
15	chr1:120654200-120655600	Enhancers	NH-A	brain
16	chr1:120654200-120659200	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr1:120654400-120658000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:120654400-120658400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:120654400-120658400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:120654400-120658400	Weak transcription	Osteobl	bone
21	chr1:120654400-120659200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr1:120654400-120665600	Weak transcription	Primary B cells from cord blood	blood
23	chr1:120657800-120658200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr1:120658000-120660000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:120658200-120661600	Enhancers	Primary B cells from peripheral blood	blood
26	chr1:120658400-120659200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr1:120658400-120659400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:120658400-120659400	Enhancers	NHDF-Ad	bronchial
29	chr1:120658400-120659600	Enhancers	Osteobl	bone
30	chr1:120658400-120660600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:120659000-120659400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:120659000-120659400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:120659200-120660400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:120659200-120660400	Enhancers	Liver	Liver
35	chr1:120659200-120660800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr1:120659200-120661200	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr1:120659400-120659600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:120659400-120666800	Weak transcription	NHDF-Ad	bronchial
39	chr1:120659400-120667400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:120659600-120660000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:120659600-120660000	Weak transcription	Osteobl	bone
42	chr1:120659600-120670400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:120660000-120660400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:120660000-120660400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:120660000-120660600	Enhancers	Osteobl	bone
46	chr1:120660200-120660600	Enhancers	Fetal Muscle Leg	muscle
47	chr1:120660400-120660600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:120660400-120660600	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr1:120660400-120660600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:120660400-120660600	Enhancers	Muscle Satellite Cultured Cells	--

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