Variant report

Variant	nsv1003179
Chromosome Location	chr1:158660064-158689952
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:105)
CpG islands
(count:610)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:105 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:158661717-158663024	K562	blood:	n/a	n/a
2	ATF2	chr1:158685997-158686610	GM12878	blood:	n/a	n/a
3	ATF2	chr1:158685985-158686572	GM12878	blood:	n/a	n/a
4	BATF	chr1:158686205-158686468	GM12878	blood:	n/a	n/a
5	BCL11A	chr1:158686138-158686476	GM12878	blood:	n/a	chr1:158686264-158686273 chr1:158686265-158686274
6	BCLAF1	chr1:158686191-158686569	GM12878	blood:	n/a	chr1:158686264-158686273 chr1:158686265-158686274
7	BHLHE40	chr1:158664562-158664735	K562	blood:	n/a	n/a
8	CCNT2	chr1:158661758-158662042	K562	blood:	n/a	n/a
9	CEBPB	chr1:158680689-158680944	IMR90	lung:	n/a	chr1:158680816-158680827
10	CEBPB	chr1:158664592-158664615	K562	blood:	n/a	n/a
11	CEBPB	chr1:158689483-158689802	K562	blood:	n/a	n/a
12	CEBPB	chr1:158680686-158680988	A549	lung:	n/a	chr1:158680816-158680827
13	CEBPB	chr1:158661727-158662494	K562	blood:	n/a	n/a
14	CEBPB	chr1:158662761-158663125	K562	blood:	n/a	n/a
15	CEBPB	chr1:158662771-158663096	K562	blood:	n/a	n/a
16	CEBPB	chr1:158680693-158680923	K562	blood:	n/a	chr1:158680816-158680827
17	CEBPB	chr1:158680660-158680979	HepG2	liver:	n/a	chr1:158680816-158680827
18	CEBPD	chr1:158661791-158662138	K562	blood:	n/a	n/a
19	CEBPD	chr1:158661650-158662098	K562	blood:	n/a	n/a
20	CTCF	chr1:158684660-158684810	GM12873	blood:	n/a	n/a
21	CTCF	chr1:158684800-158684950	NHEK	skin:	n/a	n/a
22	CTCF	chr1:158684680-158684830	GM12873	blood:	n/a	n/a
23	CTCF	chr1:158684720-158684870	GM12875	blood:	n/a	n/a
24	CTCF	chr1:158669880-158670030	GM12865	blood:	n/a	n/a
25	CTCF	chr1:158684660-158684810	GM12872	blood:	n/a	n/a
26	CTCF	chr1:158669730-158669755	ProgFib	skin:	n/a	n/a
27	CTCF	chr1:158684600-158684750	K562	blood:	n/a	n/a
28	CUX1	chr1:158661765-158662074	K562	blood:	n/a	n/a
29	CUX1	chr1:158664483-158664607	K562	blood:	n/a	n/a
30	E2F4	chr1:158686002-158686276	MCF10A-Er-Src	breast:	n/a	n/a
31	EBF1	chr1:158686165-158686470	GM12878	blood:	n/a	n/a
32	EP300	chr1:158686175-158686557	GM12878	blood:	n/a	chr1:158686489-158686496 chr1:158686265-158686274
33	EP300	chr1:158661696-158662113	K562	blood:	n/a	n/a
34	EP300	chr1:158669238-158669278	K562	blood:	n/a	n/a
35	EP300	chr1:158664003-158664004	GM12878	blood:	n/a	n/a
36	EP300	chr1:158661927-158661956	GM12878	blood:	n/a	n/a
37	EP300	chr1:158663571-158663698	K562	blood:	n/a	n/a
38	EP300	chr1:158661674-158662230	K562	blood:	n/a	n/a
39	EP300	chr1:158666572-158666589	GM12878	blood:	n/a	n/a
40	EP300	chr1:158686199-158686421	GM12878	blood:	n/a	chr1:158686265-158686274
41	EP300	chr1:158686114-158686554	GM12878	blood:	n/a	chr1:158686265-158686274 chr1:158686489-158686496
42	FOS	chr1:158686077-158686505	MCF10A-Er-Src	breast:	n/a	chr1:158686265-158686272 chr1:158686265-158686273 chr1:158686265-158686274
43	FOS	chr1:158687235-158687446	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr1:158687273-158687411	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr1:158686080-158686443	MCF10A-Er-Src	breast:	n/a	chr1:158686265-158686272 chr1:158686265-158686273 chr1:158686265-158686274
46	FOS	chr1:158686093-158686297	HUVEC	blood vessel:	n/a	chr1:158686265-158686272 chr1:158686265-158686273 chr1:158686265-158686274
47	FOS	chr1:158686100-158686437	MCF10A-Er-Src	breast:	n/a	chr1:158686265-158686272 chr1:158686265-158686273 chr1:158686265-158686274
48	FOS	chr1:158686072-158686443	MCF10A-Er-Src	breast:	n/a	chr1:158686265-158686272 chr1:158686265-158686273 chr1:158686265-158686274
49	FOS	chr1:158687170-158687297	MCF10A-Er-Src	breast:	n/a	n/a
50	FOXM1	chr1:158686093-158686591	GM12878	blood:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:158671873-158671923	GM12892	blood:	n/a
2	chr1:158688926-158688976	HCM	heart:	n/a
3	chr1:158689263-158689313	ECC-1	luminal epithelium:	n/a
4	chr1:158670124-158670174	HEEpiC	esophagus:	n/a
5	chr1:158688775-158688825	LNCaP	prostate:	n/a
6	chr1:158688804-158688854	HRCEpiC	kidney:	n/a
7	chr1:158688926-158688976	T-47D	breast:	n/a
8	chr1:158688775-158688825	K562	blood:	n/a
9	chr1:158689141-158689191	PFSK-1	brain:	n/a
10	chr1:158671873-158671923	GM06990	blood:	n/a
11	chr1:158670124-158670174	SKMC	muscle:	n/a
12	chr1:158688775-158688825	HRCEpiC	kidney:	n/a
13	chr1:158688775-158688825	AoSMC	blood vessel:	n/a
14	chr1:158687431-158687481	AG09319	gingival:	n/a
15	chr1:158670397-158670447	AG09309	skin:	n/a
16	chr1:158670617-158670667	HCT-116	colon:	n/a
17	chr1:158688775-158688825	ovcar-3	ovarian:	n/a
18	chr1:158671873-158671923	HRPEpiC	eye:	n/a
19	chr1:158671873-158671923	ovcar-3	ovarian:	n/a
20	chr1:158670397-158670447	Hela-S3	cervix:	n/a
21	chr1:158688926-158688976	NHDF-neo	bronchial:	n/a
22	chr1:158689141-158689191	HRCEpiC	kidney:	n/a
23	chr1:158688804-158688854	Hepatocyte	liver:	n/a
24	chr1:158670397-158670447	GM12878	blood:	n/a
25	chr1:158688804-158688854	NHBE	bronchial:	n/a
26	chr1:158670397-158670447	MCF10A-Er-Src	breast:	n/a
27	chr1:158689263-158689313	A549	lung:	n/a
28	chr1:158689263-158689313	HCF	heart:	n/a
29	chr1:158670397-158670447	MCF-7	breast:	n/a
30	chr1:158688804-158688854	HepG2	liver:	n/a
31	chr1:158688775-158688825	Hela-S3	cervix:	n/a
32	chr1:158688804-158688854	SAEC	small airway:	n/a
33	chr1:158689263-158689313	SAEC	small airway:	n/a
34	chr1:158688775-158688825	HL-60	blood:	n/a
35	chr1:158670617-158670667	Hepatocyte	liver:	n/a
36	chr1:158689141-158689191	K562	blood:	n/a
37	chr1:158687431-158687481	CMK	blood:	n/a
38	chr1:158689141-158689191	T-47D	breast:	n/a
39	chr1:158670397-158670447	T-47D	breast:	n/a
40	chr1:158670617-158670667	AG10803	skin:	n/a
41	chr1:158689141-158689191	HUVEC	blood vessel:	n/a
42	chr1:158670617-158670667	SK-N-MC	brain:	n/a
43	chr1:158689141-158689191	MCF10A-Er-Src	breast:	n/a
44	chr1:158687431-158687481	AoSMC	blood vessel:	n/a
45	chr1:158670617-158670667	ECC-1	luminal epithelium:	n/a
46	chr1:158670397-158670447	ECC-1	luminal epithelium:	n/a
47	chr1:158688775-158688825	MCF-7	breast:	n/a
48	chr1:158689141-158689191	SKMC	muscle:	n/a
49	chr1:158670397-158670447	ProgFib	skin:	n/a
50	chr1:158670397-158670447	U87	brain:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:158659297..158661841-chr1:158675200..158677714,2	K562	blood:
2	chr1:158659297..158661841-chr1:158675200..158677714,2	K562	blood:
3	chr1:158659639..158662606-chr1:158667652..158670080,3	K562	blood:
4	chr1:158661667..158663696-chr1:158666950..158669041,2	K562	blood:
5	chr1:158684463..158686914-chr1:158687743..158690259,2	K562	blood:
6	chr1:158674913..158677154-chr1:158686436..158687990,2	K562	blood:
7	chr1:158669887..158672800-chr1:158674715..158677591,2	K562	blood:
8	chr1:158676105..158677828-chr1:158684515..158686089,2	K562	blood:
9	chr1:158661667..158663696-chr1:158666950..158669041,2	K562	blood:
10	chr1:158676105..158677828-chr1:158684515..158686089,2	K562	blood:
11	chr1:158659639..158662606-chr1:158667652..158670080,3	K562	blood:

No data

Variant related genes	Relation type
OR6K1P	TF binding region
OR6K2	TF binding region
SPTA1	TF binding region
OR6K3	TF binding region
OR6K1P	CpG island
OR6K2	CpG island
SPTA1	CpG island
OR6K3	CpG island
ENSG00000203757	chromatin interactions
ENSG00000196171	chromatin interactions

Extended variants
information (count: 700 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:700 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2435286	chr1:158660097-158660098	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184014224	chr1:158660098-158660099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144988508	chr1:158660119-158660120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553187717	chr1:158660167-158660168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs56376941	chr1:158660178-158660179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs397779673	chr1:158660186-158660187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs71084282	chr1:158660205-158660206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs386368444	chr1:158660206-158660207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs397764458	chr1:158660208-158660209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527462779	chr1:158660209-158660210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374643449	chr1:158660214-158660215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs56143597	chr1:158660218-158660219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201623520	chr1:158660228-158660229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs56280024	chr1:158660229-158660230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs55731727	chr1:158660233-158660234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78045636	chr1:158660238-158660239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531344873	chr1:158660242-158660243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147560140	chr1:158660250-158660251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529934008	chr1:158660263-158660264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2482952	chr1:158660282-158660283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370176904	chr1:158660290-158660291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575079493	chr1:158660291-158660292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2427802	chr1:158660313-158660314	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs2482953	chr1:158660327-158660328	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs560595820	chr1:158660374-158660375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149725789	chr1:158660409-158660410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188850709	chr1:158660442-158660443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs71579627	chr1:158660445-158660446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2427804	chr1:158660446-158660447	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs61828503	chr1:158660447-158660448	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs563997623	chr1:158660488-158660489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192058963	chr1:158660508-158660509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185415597	chr1:158660509-158660510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371001431	chr1:158660521-158660522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10908688	chr1:158660530-158660531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535086382	chr1:158660540-158660541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10908689	chr1:158660586-158660587	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs10908690	chr1:158660611-158660612	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs140518713	chr1:158660618-158660619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556918755	chr1:158660620-158660621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2511195	chr1:158660632-158660633	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs112790715	chr1:158660645-158660646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2482954	chr1:158660652-158660653	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs2511196	chr1:158660662-158660663	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs539914828	chr1:158660706-158660707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564997286	chr1:158660722-158660723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540223468	chr1:158660741-158660742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545579176	chr1:158660755-158660756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11586270	chr1:158660832-158660833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs190042623	chr1:158660851-158660852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158660000-158660800	Enhancers	K562	blood
2	chr1:158660800-158661600	Weak transcription	K562	blood
3	chr1:158661600-158661800	Active TSS	K562	blood
4	chr1:158661800-158662000	Flanking Active TSS	K562	blood
5	chr1:158662000-158662200	Active TSS	K562	blood
6	chr1:158662200-158662400	Flanking Active TSS	K562	blood
7	chr1:158662400-158665000	Enhancers	K562	blood
8	chr1:158665000-158667200	Weak transcription	K562	blood
9	chr1:158669800-158670000	ZNF genes & repeats	Pancreas	Pancrea
10	chr1:158676800-158677200	Enhancers	K562	blood
11	chr1:158686600-158687600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:158687000-158687600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:158687000-158687600	Enhancers	HMEC	breast
14	chr1:158687200-158687600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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