Variant report

Variant	nsv1009984
Chromosome Location	chr1:188947107-189037864
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	chr1:188967459-188967540	K562	blood:	n/a	n/a
2	BACH1	chr1:188957759-188958083	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr1:189015268-189015468	H1-hESC	embryonic stem cell:	n/a	chr1:189015393-189015406 chr1:189015395-189015404 chr1:189015395-189015404 chr1:189015395-189015406 chr1:189015395-189015404 chr1:189015393-189015404 chr1:189015395-189015404 chr1:189015393-189015406
4	CEBPB	chr1:188996604-188997110	MCF-7	breast:	n/a	chr1:188996869-188996880 chr1:188996869-188996882 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880
5	CEBPB	chr1:189022503-189022761	A549	lung:	n/a	n/a
6	CEBPB	chr1:188984517-188984825	A549	lung:	n/a	chr1:188984670-188984681
7	CEBPB	chr1:188996683-188997056	HepG2	liver:	n/a	chr1:188996869-188996880 chr1:188996869-188996882 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880
8	CEBPB	chr1:188984512-188984824	IMR90	lung:	n/a	chr1:188984670-188984681
9	CEBPB	chr1:188998528-188998788	A549	lung:	n/a	n/a
10	CEBPB	chr1:188996686-188997062	K562	blood:	n/a	chr1:188996869-188996880 chr1:188996869-188996882 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880
11	CEBPB	chr1:188996687-188997065	IMR90	lung:	n/a	chr1:188996869-188996880 chr1:188996869-188996882 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880
12	CEBPB	chr1:188990601-188991154	A549	lung:	n/a	chr1:188990820-188990833
13	CEBPB	chr1:188969322-188969657	IMR90	lung:	n/a	chr1:188969500-188969511
14	CEBPB	chr1:188996578-188997249	A549	lung:	n/a	chr1:188996869-188996880 chr1:188996869-188996882 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880
15	CEBPB	chr1:188962787-188963036	HepG2	liver:	n/a	chr1:188962894-188962905
16	CEBPB	chr1:188996688-188997020	A549	lung:	n/a	chr1:188996869-188996880 chr1:188996869-188996882 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880
17	CEBPB	chr1:188996683-188997077	A549	lung:	n/a	chr1:188996869-188996880 chr1:188996869-188996882 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880
18	CEBPB	chr1:188984681-188984698	K562	blood:	n/a	n/a
19	CEBPB	chr1:188996699-188997084	ECC-1	luminal epithelium:	n/a	chr1:188996869-188996880 chr1:188996869-188996882 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880
20	CEBPB	chr1:189022473-189022756	IMR90	lung:	n/a	n/a
21	CEBPB	chr1:188969322-188969673	HepG2	liver:	n/a	chr1:188969500-188969511
22	CEBPB	chr1:188967494-188967801	HepG2	liver:	n/a	chr1:188967651-188967664 chr1:188967652-188967663 chr1:188967651-188967664
23	CEBPB	chr1:189015259-189015572	A549	lung:	n/a	chr1:189015393-189015406 chr1:189015395-189015404 chr1:189015395-189015404 chr1:189015395-189015406 chr1:189015395-189015404 chr1:189015393-189015404 chr1:189015395-189015404 chr1:189015393-189015406
24	CEBPB	chr1:189015222-189015587	HepG2	liver:	n/a	chr1:189015393-189015406 chr1:189015395-189015404 chr1:189015395-189015404 chr1:189015395-189015406 chr1:189015395-189015404 chr1:189015393-189015404 chr1:189015395-189015404 chr1:189015393-189015406
25	CEBPB	chr1:188967502-188967750	H1-hESC	embryonic stem cell:	n/a	chr1:188967651-188967664 chr1:188967652-188967663 chr1:188967651-188967664
26	CEBPB	chr1:188969376-188969576	K562	blood:	n/a	chr1:188969500-188969511
27	CEBPB	chr1:188996669-188997064	H1-hESC	embryonic stem cell:	n/a	chr1:188996869-188996880 chr1:188996869-188996882 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880
28	CEBPB	chr1:188969492-188969518	H1-hESC	embryonic stem cell:	n/a	chr1:188969500-188969511
29	CEBPB	chr1:189015218-189015571	Hela-S3	cervix:	n/a	chr1:189015393-189015406 chr1:189015395-189015404 chr1:189015395-189015404 chr1:189015395-189015406 chr1:189015395-189015404 chr1:189015393-189015404 chr1:189015395-189015404 chr1:189015393-189015406
30	CEBPB	chr1:188962765-188962986	H1-hESC	embryonic stem cell:	n/a	chr1:188962894-188962905
31	CEBPB	chr1:188996654-188997063	ECC-1	luminal epithelium:	n/a	chr1:188996869-188996880 chr1:188996869-188996882 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880
32	CEBPB	chr1:188996676-188997003	MCF-7	breast:	n/a	chr1:188996869-188996880 chr1:188996869-188996882 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880
33	CEBPB	chr1:188969395-188969554	A549	lung:	n/a	chr1:188969500-188969511
34	CEBPB	chr1:188967506-188967795	IMR90	lung:	n/a	chr1:188967651-188967664 chr1:188967652-188967663 chr1:188967651-188967664
35	CEBPB	chr1:189015255-189015563	K562	blood:	n/a	chr1:189015393-189015406 chr1:189015395-189015404 chr1:189015395-189015404 chr1:189015395-189015406 chr1:189015395-189015404 chr1:189015393-189015404 chr1:189015395-189015404 chr1:189015393-189015406
36	CEBPB	chr1:189015228-189015573	IMR90	lung:	n/a	chr1:189015393-189015406 chr1:189015395-189015404 chr1:189015395-189015404 chr1:189015395-189015406 chr1:189015395-189015404 chr1:189015393-189015404 chr1:189015395-189015404 chr1:189015393-189015406
37	CEBPB	chr1:188996683-188997070	Hela-S3	cervix:	n/a	chr1:188996869-188996880 chr1:188996869-188996882 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880 chr1:188996871-188996880
38	CEBPB	chr1:188984499-188984820	HepG2	liver:	n/a	chr1:188984670-188984681
39	CTCF	chr1:188957760-188957910	AG04450	lung:	n/a	n/a
40	CTCF	chr1:188982520-188982670	AG10803	skin:	n/a	n/a
41	CTCF	chr1:188983980-188984019	Lung_OC	lung:	n/a	n/a
42	CTCF	chr1:188966377-188966395	GM10248	blood:	n/a	n/a
43	CTCF	chr1:188957740-188957890	AG04450	lung:	n/a	n/a
44	CTCF	chr1:188992115-188992166	GM13977	blood:	n/a	n/a
45	CTCF	chr1:189011480-189011630	NHDF-neo	bronchial:	n/a	n/a
46	CTCF	chr1:188969060-188969092	MCF-7	breast:	n/a	n/a
47	CTCF	chr1:189022520-189022670	AG09319	gingival:	n/a	n/a
48	CUX1	chr1:188981678-188981692	K562	blood:	n/a	n/a
49	E2F4	chr1:189013753-189013943	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F4	chr1:188977526-188977869	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:189009261..189011290-chr1:189013451..189014951,2	K562	blood:
2	chr1:188973723..188976058-chr1:189233583..189235147,2	K562	blood:
3	chr1:189009261..189011290-chr1:189013451..189014951,2	K562	blood:
4	chr1:188975384..188977741-chr1:188982777..188984574,2	K562	blood:
5	chr1:188975384..188977741-chr1:188982777..188984574,2	K562	blood:
6	chr1:189032912..189034690-chr1:189118689..189120245,2	K562	blood:
7	chr1:189027854..189030529-chr1:189039062..189041811,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLA2G4A-17	chr1:189029259-189029349	refGeneNc_416_NR_033922
2	lnc-PLA2G4A-17	chr1:189035554-189037410	refGeneNc_416_NR_033922
3	lnc-PLA2G4A-6	chr1:189005849-189006393	ENSG00000226486
4	lnc-PLA2G4A-17	chr1:188974191-188974263	refGeneNc_416_NR_033922
5	lnc-FAM5C-14	chr1:189005092-189005575	NONHSAT008482
6	lnc-PLA2G4A-17	chr1:189027267-189027316	refGeneNc_416_NR_033922

Variant related genes	Relation type
CLPTM1LP1	TF binding region

Extended variants
information (count: 790 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:790 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550639970	chr1:188955607-188955608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560780276	chr1:188955668-188955669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374611038	chr1:188955670-188955671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35638418	chr1:188955686-188955687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115073348	chr1:188955696-188955697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79542875	chr1:188955727-188955728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141806643	chr1:188955751-188955752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183552810	chr1:188955754-188955755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540741070	chr1:188955769-188955770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552426355	chr1:188955790-188955791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117107598	chr1:188955798-188955799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537997718	chr1:188955813-188955814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146183175	chr1:188955815-188955816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574795517	chr1:188955823-188955824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73059850	chr1:188955828-188955829	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs553716628	chr1:188955838-188955839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114352679	chr1:188955863-188955864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12759467	chr1:188955897-188955898	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs562987248	chr1:188955906-188955907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138234729	chr1:188955908-188955909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576587478	chr1:188955918-188955919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542010237	chr1:188955930-188955931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563223103	chr1:188955934-188955935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530749778	chr1:188955949-188955950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561059402	chr1:188955951-188955952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529778909	chr1:188955963-188955964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369113630	chr1:188955977-188955978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12733499	chr1:188955985-188955986	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs560166677	chr1:188956012-188956013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78978241	chr1:188956013-188956014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528129081	chr1:188956024-188956025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377590297	chr1:188956071-188956072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111989611	chr1:188956077-188956078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569019739	chr1:188956084-188956085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111809665	chr1:188956085-188956086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192691106	chr1:188956120-188956121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183467054	chr1:188956160-188956161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534014069	chr1:188956165-188956166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79562395	chr1:188956262-188956263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150966702	chr1:188956288-188956289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556817818	chr1:188956303-188956304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576633324	chr1:188956325-188956326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188195052	chr1:188956372-188956373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191544878	chr1:188956415-188956416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184078007	chr1:188956425-188956426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139513874	chr1:188956444-188956445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10801063	chr1:188956465-188956466	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs73059852	chr1:188956480-188956481	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs540138950	chr1:188956501-188956502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560229958	chr1:188956506-188956507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:188955600-188956400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:188955800-188956400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:188955800-188956400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr1:188955800-188956600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:188956200-188956400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:188956200-188956600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr1:188956200-188956800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:188956400-188959200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:188956800-188961400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:188958800-188959400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:188959200-188960000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:188959400-188959600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr1:188959600-188961600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:188961400-188962600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:188961400-188963000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr1:188961600-188963000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr1:188962000-188962600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr1:188962000-188962600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr1:188962200-188962600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr1:188990000-188990800	Enhancers	A549	lung
21	chr1:188990800-188991200	Flanking Active TSS	A549	lung
22	chr1:188991200-188991800	Enhancers	A549	lung
23	chr1:188991800-188996400	Weak transcription	A549	lung
24	chr1:188996400-188996600	Active TSS	A549	lung
25	chr1:188996600-188996800	Flanking Active TSS	A549	lung
26	chr1:188996800-188997000	Enhancers	A549	lung
27	chr1:189008000-189008600	Enhancers	Fetal Lung	lung
28	chr1:189015400-189015800	Enhancers	Fetal Brain Female	brain

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