Variant report

Variant	nsv527619
Chromosome Location	chr1:158168563-158170546
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	CEBPB	chr1:158169713-158170064	ECC-1	luminal epithelium:	n/a	chr1:158169846-158169855 chr1:158169846-158169855 chr1:158169846-158169855
2	CEBPB	chr1:158169682-158170019	HepG2	liver:	n/a	chr1:158169846-158169855 chr1:158169846-158169855 chr1:158169846-158169855
3	CEBPB	chr1:158169723-158169950	H1-hESC	embryonic stem cell:	n/a	chr1:158169846-158169855 chr1:158169846-158169855 chr1:158169846-158169855
4	CEBPB	chr1:158169687-158169961	ECC-1	luminal epithelium:	n/a	chr1:158169846-158169855 chr1:158169846-158169855 chr1:158169846-158169855
5	CEBPB	chr1:158169667-158170032	IMR90	lung:	n/a	chr1:158169846-158169855 chr1:158169846-158169855 chr1:158169846-158169855
6	CEBPB	chr1:158169628-158170039	K562	blood:	n/a	chr1:158169846-158169855 chr1:158169846-158169855 chr1:158169846-158169855
7	CEBPB	chr1:158169610-158170075	MCF-7	breast:	n/a	chr1:158169846-158169855 chr1:158169846-158169855 chr1:158169846-158169855
8	CEBPB	chr1:158169625-158170135	A549	lung:	n/a	chr1:158169846-158169855 chr1:158169846-158169855 chr1:158169846-158169855
9	CEBPB	chr1:158169708-158169982	K562	blood:	n/a	chr1:158169846-158169855 chr1:158169846-158169855 chr1:158169846-158169855
10	CEBPB	chr1:158169696-158170016	MCF-7	breast:	n/a	chr1:158169846-158169855 chr1:158169846-158169855 chr1:158169846-158169855
11	CEBPB	chr1:158169661-158170021	A549	lung:	n/a	chr1:158169846-158169855 chr1:158169846-158169855 chr1:158169846-158169855
12	CEBPB	chr1:158169662-158170038	K562	blood:	n/a	chr1:158169846-158169855 chr1:158169846-158169855 chr1:158169846-158169855
13	CEBPB	chr1:158169666-158170030	Hela-S3	cervix:	n/a	chr1:158169846-158169855 chr1:158169846-158169855 chr1:158169846-158169855
14	CEBPB	chr1:158169635-158170037	A549	lung:	n/a	chr1:158169846-158169855 chr1:158169846-158169855 chr1:158169846-158169855
15	FOS	chr1:158169660-158169979	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr1:158169669-158170002	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr1:158169673-158169978	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr1:158169664-158169980	MCF10A-Er-Src	breast:	n/a	n/a
19	FOXM1	chr1:158168426-158168704	GM12878	blood:	n/a	n/a
20	GATA1	chr1:158170143-158170874	PBDE	blood:	n/a	n/a
21	IRF1	chr1:158170480-158170928	K562	blood:	n/a	n/a
22	IRF1	chr1:158170434-158170953	K562	blood:	n/a	n/a
23	MAFF	chr1:158170350-158170626	HepG2	liver:	n/a	chr1:158170473-158170491
24	MAFF	chr1:158170322-158170671	K562	blood:	n/a	chr1:158170473-158170491
25	MAFK	chr1:158170336-158170642	IMR90	lung:	n/a	chr1:158170475-158170490
26	MAFK	chr1:158170313-158170661	HepG2	liver:	n/a	chr1:158170475-158170490
27	MAFK	chr1:158170420-158170654	HepG2	liver:	n/a	chr1:158170475-158170490
28	MAFK	chr1:158170323-158170658	K562	blood:	n/a	chr1:158170475-158170490
29	MYC	chr1:158169670-158169953	NB4	blood:	n/a	n/a
30	RUNX3	chr1:158169725-158170074	GM12878	blood:	n/a	n/a
31	RUNX3	chr1:158168447-158168702	GM12878	blood:	n/a	n/a
32	STAT3	chr1:158169672-158169984	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr1:158169806-158169935	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr1:158169744-158169944	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr1:158169696-158169974	MCF10A-Er-Src	breast:	n/a	n/a
36	TAL1	chr1:158170407-158170651	K562	blood:	n/a	n/a
37	TEAD4	chr1:158170368-158170681	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CD1B-1	chr1:158167712-158169625	ENSG00000176320

Variant related genes	Relation type
ENSG00000229914	TF binding region

Extended variants
information (count: 96 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7548147	chr1:158168563-158168564	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561363402	chr1:158168657-158168658	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs670766	chr1:158168665-158168666	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs7527282	chr1:158168689-158168690	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs563548819	chr1:158168761-158168762	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs146603530	chr1:158168795-158168796	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs549183153	chr1:158168871-158168872	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs7527480	chr1:158168876-158168877	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs529386714	chr1:158168877-158168878	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs547616883	chr1:158168882-158168883	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs143382279	chr1:158168887-158168888	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs146116395	chr1:158168904-158168905	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs671710	chr1:158168915-158168916	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs369771970	chr1:158168920-158168921	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs373536996	chr1:158168931-158168932	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs12063566	chr1:158168990-158168991	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs12121750	chr1:158168991-158168992	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs12063567	chr1:158168992-158168993	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs12132066	chr1:158168993-158168994	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs557174048	chr1:158168994-158168995	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs545378780	chr1:158169018-158169019	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs191426408	chr1:158169030-158169031	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs555923282	chr1:158169059-158169060	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs672631	chr1:158169079-158169080	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs574189937	chr1:158169082-158169083	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs7550767	chr1:158169085-158169086	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs183941728	chr1:158169098-158169099	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs577692421	chr1:158169100-158169101	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs370346692	chr1:158169101-158169102	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs544988702	chr1:158169123-158169124	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs7550836	chr1:158169125-158169126	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs138017019	chr1:158169132-158169133	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs143480710	chr1:158169157-158169158	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs561129405	chr1:158169158-158169159	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs528226180	chr1:158169162-158169163	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs146399955	chr1:158169182-158169183	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs71630693	chr1:158169188-158169189	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs111492146	chr1:158169189-158169190	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs201463108	chr1:158169192-158169193	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs2763203	chr1:158169193-158169194	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs691540	chr1:158169194-158169195	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs866355	chr1:158169195-158169196	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs2453252	chr1:158169207-158169208	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs546793661	chr1:158169211-158169212	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs673448	chr1:158169234-158169235	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs691542	chr1:158169237-158169238	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs566005516	chr1:158169311-158169312	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs147203308	chr1:158169326-158169327	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs551338056	chr1:158169352-158169353	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs673963	chr1:158169360-158169361	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	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
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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158164000-158172800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr1:158166000-158168600	Weak transcription	Thymus	Thymus
3	chr1:158166000-158169800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:158167200-158169200	Genic enhancers	Dnd41	blood
5	chr1:158167200-158169400	Strong transcription	Fetal Thymus	thymus
6	chr1:158167200-158170400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:158168000-158172800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:158168400-158168800	Enhancers	Fetal Lung	lung
9	chr1:158168600-158168800	Genic enhancers	Thymus	Thymus
10	chr1:158168800-158169600	Strong transcription	Thymus	Thymus
11	chr1:158169200-158169600	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr1:158169200-158170600	Transcr. at gene 5' and 3'	Dnd41	blood
13	chr1:158169400-158170200	Weak transcription	Fetal Thymus	thymus
14	chr1:158169600-158169800	Active TSS	Thymus	Thymus
15	chr1:158169600-158170000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr1:158169600-158170400	Active TSS	Primary T cells from cord blood	blood
17	chr1:158169600-158170600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:158169800-158170000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:158169800-158170000	Enhancers	Fetal Lung	lung
20	chr1:158169800-158170000	Flanking Active TSS	Thymus	Thymus
21	chr1:158170000-158170800	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr1:158170000-158171400	Active TSS	Thymus	Thymus
23	chr1:158170200-158173800	Active TSS	Fetal Thymus	thymus
24	chr1:158170400-158170800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr1:158170400-158171400	Enhancers	Primary T cells from cord blood	blood

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