Variant report

Variant	nsv547986
Chromosome Location	chr1:158520205-158556839
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	chr1:158550607-158550868	H1-hESC	embryonic stem cell:	n/a	chr1:158550707-158550716
2	CEBPB	chr1:158531505-158531787	A549	lung:	n/a	n/a
3	CEBPB	chr1:158532712-158532872	K562	blood:	n/a	n/a
4	CEBPB	chr1:158531479-158531802	HepG2	liver:	n/a	n/a
5	CEBPB	chr1:158550555-158550871	IMR90	lung:	n/a	chr1:158550707-158550716
6	CEBPB	chr1:158545076-158545334	K562	blood:	n/a	chr1:158545192-158545205 chr1:158545192-158545203
7	CEBPB	chr1:158550590-158550868	HepG2	liver:	n/a	chr1:158550707-158550716
8	CEBPB	chr1:158545062-158545335	A549	lung:	n/a	chr1:158545192-158545205 chr1:158545192-158545203
9	CEBPB	chr1:158545033-158545344	IMR90	lung:	n/a	chr1:158545192-158545205 chr1:158545192-158545203
10	CEBPB	chr1:158550599-158550839	A549	lung:	n/a	chr1:158550707-158550716
11	CEBPB	chr1:158532609-158532840	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr1:158545031-158545371	HepG2	liver:	n/a	chr1:158545192-158545205 chr1:158545192-158545203
13	CEBPB	chr1:158550605-158550872	K562	blood:	n/a	chr1:158550707-158550716
14	CEBPB	chr1:158545112-158545258	H1-hESC	embryonic stem cell:	n/a	chr1:158545192-158545205 chr1:158545192-158545203
15	CTCF	chr1:158549100-158549250	HEK293	kidney:	n/a	n/a
16	CTCF	chr1:158549160-158549310	GM12871	blood:	n/a	n/a
17	CTCF	chr1:158549060-158549210	HL-60	blood:	n/a	n/a
18	CTCF	chr1:158549220-158549370	HVMF	connective:	n/a	n/a
19	E2F4	chr1:158540127-158540234	MCF10A-Er-Src	breast:	n/a	n/a
20	EP300	chr1:158525648-158525848	GM12878	blood:	n/a	n/a
21	FOS	chr1:158553834-158554139	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr1:158553852-158554051	MCF10A-Er-Src	breast:	n/a	n/a
23	GATA2	chr1:158534202-158534495	SH-SY5Y	brain:	n/a	n/a
24	GATA3	chr1:158534235-158534402	SH-SY5Y	brain:	n/a	n/a
25	IRF1	chr1:158520619-158520627	K562	blood:	n/a	n/a
26	JUN	chr1:158521090-158521284	K562	blood:	n/a	n/a
27	JUN	chr1:158529879-158530008	HepG2	liver:	n/a	chr1:158529978-158529990 chr1:158529919-158529928 chr1:158529981-158529992
28	JUND	chr1:158549716-158549998	HepG2	liver:	n/a	chr1:158549720-158549730 chr1:158549871-158549880 chr1:158549720-158549730
29	JUND	chr1:158529806-158530052	HepG2	liver:	n/a	chr1:158529978-158529990 chr1:158529919-158529928 chr1:158529981-158529992
30	MAFF	chr1:158520260-158520451	HepG2	liver:	n/a	n/a
31	MAFF	chr1:158549577-158549907	HepG2	liver:	n/a	chr1:158549712-158549730
32	MAFF	chr1:158541577-158541715	HepG2	liver:	n/a	chr1:158541649-158541667
33	MAFF	chr1:158520698-158520848	HepG2	liver:	n/a	n/a
34	MAFK	chr1:158530242-158530394	HepG2	liver:	n/a	chr1:158530249-158530263
35	MAFK	chr1:158549581-158549881	HepG2	liver:	n/a	chr1:158549714-158549730 chr1:158549714-158549729
36	MAFK	chr1:158520227-158520427	HepG2	liver:	n/a	chr1:158520329-158520345 chr1:158520330-158520341 chr1:158520328-158520342 chr1:158520329-158520340 chr1:158520329-158520340
37	MAFK	chr1:158549555-158549896	HepG2	liver:	n/a	chr1:158549714-158549730 chr1:158549714-158549729
38	MAFK	chr1:158541597-158541741	HepG2	liver:	n/a	chr1:158541655-158541666 chr1:158541650-158541665 chr1:158541655-158541666 chr1:158541654-158541665 chr1:158541653-158541667
39	MAFK	chr1:158556832-158557064	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAFK	chr1:158541536-158541695	HepG2	liver:	n/a	chr1:158541655-158541666 chr1:158541650-158541665 chr1:158541655-158541666 chr1:158541654-158541665 chr1:158541653-158541667
41	MAFK	chr1:158549576-158549889	IMR90	lung:	n/a	chr1:158549714-158549730 chr1:158549714-158549729
42	POLR2A	chr1:158526474-158526671	K562	blood:	n/a	n/a
43	POLR2A	chr1:158525162-158525182	K562	blood:	n/a	n/a
44	POLR2A	chr1:158545654-158545757	K562	blood:	n/a	n/a
45	POLR2A	chr1:158542140-158542151	K562	blood:	n/a	n/a
46	POLR2A	chr1:158556787-158557250	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr1:158525602-158525608	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr1:158522934-158523057	K562	blood:	n/a	n/a
49	POLR2A	chr1:158533883-158533933	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr1:158530596-158530663	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:158550705-158550755	NHDF-neo	bronchial:	n/a
2	chr1:158533225-158533275	AG04450	lung:	fetal
3	chr1:158550705-158550755	SAEC	small airway:	n/a
4	chr1:158534143-158534193	Hepatocyte	liver:	n/a
5	chr1:158550705-158550755	HCM	heart:	n/a
6	chr1:158532613-158532663	HAEpiC	amniotic membrane:	n/a
7	chr1:158549277-158549327	HCPEpiC	choroid plexus:	n/a
8	chr1:158549410-158549460	ECC-1	luminal epithelium:	n/a
9	chr1:158533225-158533275	AG09309	skin:	n/a
10	chr1:158549277-158549327	CMK	blood:	n/a
11	chr1:158549277-158549327	T-47D	breast:	n/a
12	chr1:158532613-158532663	HMEC	breast:	n/a
13	chr1:158533225-158533275	NHDF-neo	bronchial:	n/a
14	chr1:158533225-158533275	HL-60	blood:	n/a
15	chr1:158534143-158534193	HL-60	blood:	n/a
16	chr1:158549410-158549460	SKMC	muscle:	n/a
17	chr1:158549410-158549460	AG09309	skin:	n/a
18	chr1:158532613-158532663	PANC-1	pancreas:	n/a
19	chr1:158533225-158533275	PrEC	prostate:	n/a
20	chr1:158549410-158549460	Jurkat	blood:	n/a
21	chr1:158549410-158549460	HCF	heart:	n/a
22	chr1:158549277-158549327	HRCEpiC	kidney:	n/a
23	chr1:158534143-158534193	HCT-116	colon:	n/a
24	chr1:158534679-158534729	K562	blood:	n/a
25	chr1:158550705-158550755	CMK	blood:	n/a
26	chr1:158534143-158534193	NT2-D1	testis:	n/a
27	chr1:158534679-158534729	HRPEpiC	eye:	n/a
28	chr1:158532613-158532663	SK-N-SH	brain:	n/a
29	chr1:158533225-158533275	HMEC	breast:	n/a
30	chr1:158532613-158532663	HRCEpiC	kidney:	n/a
31	chr1:158550705-158550755	A549	lung:	n/a
32	chr1:158534143-158534193	HEK293	kidney:	embryo
33	chr1:158549410-158549460	PFSK-1	brain:	n/a
34	chr1:158550705-158550755	RPTEC	kidney:	n/a
35	chr1:158534679-158534729	NB4	blood:	n/a
36	chr1:158549410-158549460	HL-60	blood:	n/a
37	chr1:158549277-158549327	NT2-D1	testis:	n/a
38	chr1:158534143-158534193	T-47D	breast:	n/a
39	chr1:158549277-158549327	H1-hESC	embryonic stem cell:	embryo
40	chr1:158532613-158532663	PrEC	prostate:	n/a
41	chr1:158534143-158534193	SK-N-MC	brain:	n/a
42	chr1:158533225-158533275	NH-A	brain:	n/a
43	chr1:158532613-158532663	HCT-116	colon:	n/a
44	chr1:158534143-158534193	HIPEpiC	eye:	n/a
45	chr1:158532613-158532663	HIPEpiC	eye:	n/a
46	chr1:158532613-158532663	GM19239	blood:	n/a
47	chr1:158550705-158550755	Caco-2	colon:	n/a
48	chr1:158550705-158550755	MCF-7	breast:	n/a
49	chr1:158533225-158533275	HCT-116	colon:	n/a
50	chr1:158534143-158534193	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:158473786..158476018-chr1:158544430..158546259,2	K562	blood:
2	chr1:158532774..158535778-chr1:158538255..158542320,4	K562	blood:
3	chr1:158540560..158542927-chr1:158543550..158545260,2	K562	blood:
4	chr1:158540560..158542927-chr1:158543550..158545260,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR10X1-1	chr1:158544880-158545106	expReg_chr1_16860_-
2	lnc-OR10X1-2	chr1:158543681-158543918	expReg_chr1_16855_-

Variant related genes	Relation type
OR10X1	TF binding region
OR6P1	TF binding region
OR6Y1	TF binding region
OR10X1	CpG island
OR6P1	CpG island
OR6Y1	CpG island
ENSG00000186440	chromatin interactions

Extended variants
information (count: 527 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:527 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191236221	chr1:158520252-158520253	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs561723916	chr1:158520260-158520261	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs573740127	chr1:158520325-158520326	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs574067359	chr1:158520366-158520367	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs114261718	chr1:158520372-158520373	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs543029852	chr1:158520398-158520399	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs183826704	chr1:158520403-158520404	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs9804005	chr1:158520414-158520415	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs542503730	chr1:158520427-158520428	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs151011555	chr1:158520440-158520441	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs564815672	chr1:158520446-158520447	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs555589531	chr1:158520717-158520718	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs6697656	chr1:158520737-158520738	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs113267175	chr1:158521114-158521115	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs150407267	chr1:158521209-158521210	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs564480501	chr1:158521247-158521248	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs531682953	chr1:158521263-158521264	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs181456155	chr1:158521278-158521279	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs180816743	chr1:158522331-158522332	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs570952500	chr1:158522345-158522346	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs553254860	chr1:158522346-158522347	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs571487383	chr1:158522356-158522357	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs555724541	chr1:158522510-158522511	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs139286549	chr1:158522517-158522518	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs541329592	chr1:158522560-158522561	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs559591740	chr1:158522573-158522574	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs183128889	chr1:158522583-158522584	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs149402994	chr1:158522642-158522643	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs545183287	chr1:158522647-158522648	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs7526514	chr1:158532405-158532406	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs190353277	chr1:158532425-158532426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200912715	chr1:158532447-158532448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139022609	chr1:158532457-158532458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs41273495	chr1:158532460-158532461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs367957864	chr1:158532502-158532503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370517973	chr1:158532517-158532518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs193300624	chr1:158532522-158532523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184230405	chr1:158532531-158532532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553623913	chr1:158532533-158532534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572177051	chr1:158532574-158532575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374158273	chr1:158532584-158532585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142215019	chr1:158532597-158532598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs115786820	chr1:158532605-158532606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs41273497	chr1:158532607-158532608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368930456	chr1:158532608-158532609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544671346	chr1:158532610-158532611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs41273499	chr1:158532614-158532615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530082510	chr1:158532645-158532646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542560416	chr1:158532659-158532660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189593782	chr1:158532668-158532669	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
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
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	17440070	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158532400-158532800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:158532800-158534200	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr1:158533200-158534000	Enhancers	Primary B cells from cord blood	blood
4	chr1:158533600-158535000	Enhancers	Primary B cells from peripheral blood	blood
5	chr1:158533600-158535200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr1:158533800-158534000	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr1:158534000-158534200	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr1:158534000-158534800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr1:158534200-158534400	Enhancers	Primary B cells from cord blood	blood
10	chr1:158534200-158534600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:158534200-158534800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr1:158534200-158534800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:158534200-158535000	Enhancers	Primary hematopoietic stem cells	blood
14	chr1:158534200-158535000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr1:158534400-158534600	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr1:158534400-158534800	Enhancers	Dnd41	blood
17	chr1:158534600-158535000	Enhancers	Primary B cells from cord blood	blood
18	chr1:158534800-158535000	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr1:158534800-158535000	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr1:158535000-158539200	Weak transcription	Primary B cells from cord blood	blood
21	chr1:158551400-158552000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr1:158551600-158552000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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