Variant report

Variant	nsv872520
Chromosome Location	chr1:166546851-166590046
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:251)
CpG islands
(count:122)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:166555984-166555985	K562	blood:	n/a	n/a
2	ARID3A	chr1:166549726-166549735	K562	blood:	n/a	n/a
3	ARID3A	chr1:166554164-166554757	K562	blood:	n/a	n/a
4	ARID3A	chr1:166567973-166568032	K562	blood:	n/a	n/a
5	ATF1	chr1:166554199-166554710	K562	blood:	n/a	n/a
6	ATF1	chr1:166549456-166549773	K562	blood:	n/a	n/a
7	BACH1	chr1:166554084-166554626	K562	blood:	n/a	n/a
8	BACH1	chr1:166585472-166585825	K562	blood:	n/a	n/a
9	BACH1	chr1:166583164-166583219	K562	blood:	n/a	n/a
10	BACH1	chr1:166585471-166585771	H1-hESC	embryonic stem cell:	n/a	n/a
11	BHLHE40	chr1:166548205-166548329	K562	blood:	n/a	n/a
12	BHLHE40	chr1:166554131-166554801	K562	blood:	n/a	n/a
13	CBX3	chr1:166554160-166554714	K562	blood:	n/a	n/a
14	CBX3	chr1:166554065-166554902	K562	blood:	n/a	n/a
15	CCNT2	chr1:166554158-166554688	K562	blood:	n/a	n/a
16	CEBPB	chr1:166554118-166554758	K562	blood:	n/a	n/a
17	CEBPB	chr1:166572326-166572939	MCF-7	breast:	n/a	chr1:166572450-166572463 chr1:166572452-166572463 chr1:166572452-166572463
18	CEBPB	chr1:166554114-166554825	K562	blood:	n/a	n/a
19	CEBPB	chr1:166584502-166584549	K562	blood:	n/a	n/a
20	CEBPB	chr1:166570981-166571218	K562	blood:	n/a	n/a
21	CEBPB	chr1:166572416-166572866	MCF-7	breast:	n/a	chr1:166572450-166572463 chr1:166572452-166572463 chr1:166572452-166572463
22	CEBPB	chr1:166587229-166587284	HepG2	liver:	n/a	n/a
23	CEBPB	chr1:166589724-166589993	K562	blood:	n/a	n/a
24	CEBPB	chr1:166551307-166551346	K562	blood:	n/a	n/a
25	CEBPB	chr1:166554389-166554670	K562	blood:	n/a	n/a
26	CEBPD	chr1:166554203-166554831	K562	blood:	n/a	n/a
27	CEBPD	chr1:166554144-166554854	K562	blood:	n/a	n/a
28	CTCF	chr1:166552280-166552430	GM12873	blood:	n/a	n/a
29	CTCF	chr1:166565980-166566130	GM12878	blood:	n/a	n/a
30	CTCF	chr1:166587278-166587336	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr1:166554265-166554352	K562	blood:	n/a	n/a
32	CTCF	chr1:166554142-166554793	K562	blood:	n/a	n/a
33	CTCF	chr1:166554168-166554459	K562	blood:	n/a	n/a
34	CTCF	chr1:166554240-166554390	K562	blood:	n/a	n/a
35	CUX1	chr1:166582185-166582312	K562	blood:	n/a	n/a
36	CUX1	chr1:166554102-166554899	K562	blood:	n/a	n/a
37	CUX1	chr1:166549357-166549673	K562	blood:	n/a	n/a
38	CUX1	chr1:166574478-166574564	K562	blood:	n/a	n/a
39	E2F4	chr1:166572547-166572893	MCF10A-Er-Src	breast:	n/a	n/a
40	E2F4	chr1:166555629-166556082	MCF10A-Er-Src	breast:	n/a	n/a
41	E2F4	chr1:166558120-166558538	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F6	chr1:166579805-166579979	K562	blood:	n/a	n/a
43	EGR1	chr1:166572440-166572910	MCF-7	breast:	n/a	n/a
44	EGR1	chr1:166572326-166572860	MCF-7	breast:	n/a	n/a
45	ELF1	chr1:166572385-166572898	MCF-7	breast:	n/a	n/a
46	EP300	chr1:166572432-166572956	MCF-7	breast:	n/a	n/a
47	EP300	chr1:166549355-166549689	K562	blood:	n/a	chr1:166549440-166549447
48	EP300	chr1:166582244-166582413	K562	blood:	n/a	n/a
49	EP300	chr1:166554101-166554822	K562	blood:	n/a	n/a
50	EP300	chr1:166550321-166550409	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:166571691-166571741	Jurkat	blood:	n/a
2	chr1:166571691-166571741	HRPEpiC	eye:	n/a
3	chr1:166571691-166571741	ProgFib	skin:	n/a
4	chr1:166571691-166571741	NHBE	bronchial:	n/a
5	chr1:166572716-166572766	HCM	heart:	n/a
6	chr1:166571691-166571741	AG04449	skin:	fetal
7	chr1:166571691-166571741	SKMC	muscle:	n/a
8	chr1:166572716-166572766	HNPCEpiC	eye:	n/a
9	chr1:166571691-166571741	Caco-2	colon:	n/a
10	chr1:166571691-166571741	SK-N-SH_RA	brain:	n/a
11	chr1:166571691-166571741	HIPEpiC	eye:	n/a
12	chr1:166572716-166572766	SK-N-MC	brain:	n/a
13	chr1:166572716-166572766	HMEC	breast:	n/a
14	chr1:166572716-166572766	HEK293	kidney:	embryo
15	chr1:166572716-166572766	GM19239	blood:	n/a
16	chr1:166572716-166572766	SKMC	muscle:	n/a
17	chr1:166572716-166572766	AG10803	skin:	n/a
18	chr1:166572716-166572766	SK-N-SH_RA	brain:	n/a
19	chr1:166572716-166572766	NHDF-neo	bronchial:	n/a
20	chr1:166571691-166571741	ECC-1	luminal epithelium:	n/a
21	chr1:166572716-166572766	BE2_C	brain:	n/a
22	chr1:166571691-166571741	CMK	blood:	n/a
23	chr1:166572716-166572766	PANC-1	pancreas:	n/a
24	chr1:166571691-166571741	H1-hESC	embryonic stem cell:	embryo
25	chr1:166571691-166571741	GM12878	blood:	n/a
26	chr1:166572716-166572766	HIPEpiC	eye:	n/a
27	chr1:166572716-166572766	HCF	heart:	n/a
28	chr1:166572716-166572766	Hela-S3	cervix:	n/a
29	chr1:166571691-166571741	T-47D	breast:	n/a
30	chr1:166572716-166572766	HPAEpiC	pulmonary alveolar:	n/a
31	chr1:166571691-166571741	Hela-S3	cervix:	n/a
32	chr1:166571691-166571741	A549	lung:	n/a
33	chr1:166571691-166571741	HepG2	liver:	n/a
34	chr1:166571691-166571741	PANC-1	pancreas:	n/a
35	chr1:166572716-166572766	HRE	kidney:	n/a
36	chr1:166571691-166571741	IMR90	lung:	fetal
37	chr1:166571691-166571741	PrEC	prostate:	n/a
38	chr1:166572716-166572766	GM12878	blood:	n/a
39	chr1:166571691-166571741	GM19239	blood:	n/a
40	chr1:166571691-166571741	BJ	skin:	n/a
41	chr1:166571691-166571741	Hepatocyte	liver:	n/a
42	chr1:166571691-166571741	GM06990	blood:	n/a
43	chr1:166572716-166572766	AG04450	lung:	fetal
44	chr1:166572716-166572766	AG04449	skin:	fetal
45	chr1:166571691-166571741	HRCEpiC	kidney:	n/a
46	chr1:166572716-166572766	K562	blood:	n/a
47	chr1:166572716-166572766	MCF-7	breast:	n/a
48	chr1:166572716-166572766	PFSK-1	brain:	n/a
49	chr1:166572716-166572766	Caco-2	colon:	n/a
50	chr1:166572716-166572766	NT2-D1	testis:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:166553441..166555941-chr1:166692722..166694602,2	K562	blood:
2	chr1:166546817..166549594-chr1:166554279..166555815,3	K562	blood:
3	chr1:166538818..166541010-chr1:166552416..166555173,2	K562	blood:
4	chr1:166526359..166528969-chr1:166551076..166553291,2	K562	blood:
5	chr1:166552621..166555359-chr1:166806304..166809167,2	K562	blood:
6	chr1:166566883..166568406-chr1:166568618..166571458,2	MCF-7	breast:
7	chr1:166548285..166550394-chr1:166561795..166564014,2	K562	blood:
8	chr1:166582556..166584274-chr1:166807960..166809715,2	MCF-7	breast:
9	chr1:166557976..166561372-chr1:166563125..166565685,3	K562	blood:
10	chr1:166555656..166557626-chr1:166807250..166809697,2	K562	blood:
11	chr1:166589682..166592157-chr1:166593940..166597259,3	K562	blood:
12	chr1:166557976..166561372-chr1:166563125..166565685,3	K562	blood:
13	chr1:166552002..166554385-chr1:166564291..166566907,2	K562	blood:
14	chr1:166559872..166561580-chr1:166564185..166567051,2	K562	blood:
15	chr1:166541145..166543068-chr1:166552578..166555523,2	K562	blood:
16	chr1:166545251..166548120-chr6:140575352..140577699,2	MCF-7	breast:
17	chr1:166548285..166550394-chr1:166561795..166564014,2	K562	blood:
18	chr1:166563481..166565697-chr1:166594929..166597318,2	K562	blood:
19	chr1:166552002..166554385-chr1:166564291..166566907,2	K562	blood:
20	chr1:166566883..166568406-chr1:166568618..166571458,2	MCF-7	breast:
21	chr1:166546817..166549594-chr1:166554279..166555815,3	K562	blood:
22	chr1:166584740..166586661-chr1:166593653..166596420,2	K562	blood:
23	chr1:166559872..166561580-chr1:166564185..166567051,2	K562	blood:

No data

Variant related genes	Relation type
FMO9P	TF binding region
FMO9P	CpG island
ENSG00000143157	chromatin interactions

Extended variants
information (count: 1523 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1523 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534928690	chr1:166547276-166547277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185614104	chr1:166547279-166547280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77579372	chr1:166547287-166547288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577935369	chr1:166547315-166547316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374269423	chr1:166547325-166547326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569663850	chr1:166547364-166547365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563458627	chr1:166547365-166547366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577335319	chr1:166547424-166547425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573725439	chr1:166547471-166547472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542310741	chr1:166547484-166547485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188481361	chr1:166547506-166547507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6427018	chr1:166547554-166547555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs547704033	chr1:166547557-166547558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532030979	chr1:166547593-166547594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564464516	chr1:166547594-166547595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533428788	chr1:166547601-166547602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550000374	chr1:166547619-166547620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570149502	chr1:166547626-166547627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535948750	chr1:166547635-166547636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549171543	chr1:166547652-166547653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150289885	chr1:166547694-166547695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193142449	chr1:166547695-166547696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558162182	chr1:166547705-166547706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115641356	chr1:166547737-166547738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184932742	chr1:166547783-166547784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs80187981	chr1:166547818-166547819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75293932	chr1:166547905-166547906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188581742	chr1:166547984-166547985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552762173	chr1:166547991-166547992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs137937753	chr1:166548031-166548032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12736635	chr1:166548075-166548076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572869978	chr1:166548095-166548096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544637150	chr1:166548096-166548097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs57788035	chr1:166548107-166548108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556203664	chr1:166548110-166548111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72691909	chr1:166548138-166548139	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs143509532	chr1:166548152-166548153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368845472	chr1:166548162-166548163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563918806	chr1:166548202-166548203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79520729	chr1:166548210-166548211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377110020	chr1:166548217-166548218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576048821	chr1:166548252-166548253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77122677	chr1:166548285-166548286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544953425	chr1:166548287-166548288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12564390	chr1:166548316-166548317	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs1442502	chr1:166548317-166548318	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs536348348	chr1:166548374-166548375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376799474	chr1:166548407-166548408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554650875	chr1:166548437-166548438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181038159	chr1:166548526-166548527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	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
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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
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
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166547200-166549400	Weak transcription	K562	blood
2	chr1:166549400-166550200	Enhancers	K562	blood
3	chr1:166550200-166552400	Weak transcription	K562	blood
4	chr1:166552400-166554600	Enhancers	K562	blood
5	chr1:166553800-166554800	Enhancers	Fetal Heart	heart
6	chr1:166554200-166554400	Enhancers	Left Ventricle	heart
7	chr1:166554200-166554800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:166554400-166555000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:166554600-166555400	Flanking Active TSS	K562	blood
10	chr1:166555400-166556000	Enhancers	K562	blood
11	chr1:166556000-166559400	Weak transcription	K562	blood
12	chr1:166557400-166559000	Enhancers	Hela-S3	cervix
13	chr1:166559400-166559800	Enhancers	K562	blood
14	chr1:166559800-166569800	Weak transcription	K562	blood
15	chr1:166569800-166571400	Enhancers	K562	blood
16	chr1:166571000-166571200	Enhancers	HMEC	breast
17	chr1:166571400-166572400	Weak transcription	HMEC	breast
18	chr1:166571400-166574400	Weak transcription	K562	blood
19	chr1:166572400-166572800	Enhancers	HMEC	breast
20	chr1:166572800-166573000	Enhancers	Left Ventricle	heart
21	chr1:166574400-166575200	Enhancers	Fetal Heart	heart
22	chr1:166574400-166575400	Enhancers	K562	blood
23	chr1:166575000-166575400	Enhancers	Left Ventricle	heart
24	chr1:166575200-166578400	Weak transcription	Fetal Heart	heart
25	chr1:166575400-166579600	Weak transcription	Left Ventricle	heart
26	chr1:166575400-166579600	Weak transcription	K562	blood
27	chr1:166578400-166580000	Enhancers	Fetal Heart	heart
28	chr1:166579600-166580000	Enhancers	Left Ventricle	heart
29	chr1:166579600-166580400	Enhancers	K562	blood
30	chr1:166580400-166582400	Weak transcription	K562	blood
31	chr1:166582400-166582800	Enhancers	K562	blood
32	chr1:166587200-166587400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:166587400-166587800	Enhancers	Pancreas	Pancrea

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