Variant report

Variant	nsv471347
Chromosome Location	chr1:152184558-152196669
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:150)
CpG islands
(count:671)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:150 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr1:152187088-152187339	GM12878	blood:	n/a	n/a
2	BATF	chr1:152192086-152192248	GM12878	blood:	n/a	n/a
3	BATF	chr1:152188498-152188749	GM12878	blood:	n/a	n/a
4	BCL11A	chr1:152187855-152188136	GM12878	blood:	n/a	n/a
5	BCL11A	chr1:152187877-152188069	GM12878	blood:	n/a	n/a
6	BCL11A	chr1:152188595-152188784	GM12878	blood:	n/a	n/a
7	BCL11A	chr1:152188242-152188470	GM12878	blood:	n/a	n/a
8	BCL11A	chr1:152186467-152186659	GM12878	blood:	n/a	n/a
9	BCL11A	chr1:152189287-152189479	GM12878	blood:	n/a	n/a
10	BCL11A	chr1:152187185-152187374	GM12878	blood:	n/a	n/a
11	CEBPB	chr1:152196254-152196354	H1-hESC	embryonic stem cell:	n/a	chr1:152196322-152196333 chr1:152196324-152196333
12	CEBPB	chr1:152195900-152196488	HepG2	liver:	n/a	chr1:152196322-152196333 chr1:152196324-152196333
13	CEBPB	chr1:152196216-152196455	A549	lung:	n/a	chr1:152196322-152196333 chr1:152196324-152196333
14	CEBPB	chr1:152196193-152196471	IMR90	lung:	n/a	chr1:152196322-152196333 chr1:152196324-152196333
15	CEBPB	chr1:152196203-152196396	Hela-S3	cervix:	n/a	chr1:152196322-152196333 chr1:152196324-152196333
16	CEBPB	chr1:152196226-152196426	K562	blood:	n/a	chr1:152196322-152196333 chr1:152196324-152196333
17	CTCF	chr1:152191340-152191490	WERI-Rb-1	eye:	n/a	n/a
18	CTCF	chr1:152196140-152196290	GM12865	blood:	n/a	n/a
19	CTCF	chr1:152186299-152186464	GM13976	blood:	n/a	n/a
20	CTCF	chr1:152190236-152190335	GM13976	blood:	n/a	n/a
21	CTCF	chr1:152190890-152190947	GM13976	blood:	n/a	n/a
22	EBF1	chr1:152189286-152189569	GM12878	blood:	n/a	n/a
23	EBF1	chr1:152190696-152190979	GM12878	blood:	n/a	n/a
24	EBF1	chr1:152186466-152186805	GM12878	blood:	n/a	n/a
25	EBF1	chr1:152187876-152188215	GM12878	blood:	n/a	n/a
26	ELK1	chr1:152193526-152193528	Hela-S3	cervix:	n/a	n/a
27	EP300	chr1:152189325-152189910	GM12878	blood:	n/a	n/a
28	EP300	chr1:152186496-152187815	GM12878	blood:	n/a	n/a
29	EP300	chr1:152187996-152189261	GM12878	blood:	n/a	n/a
30	FOS	chr1:152195834-152195942	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr1:152195785-152196055	MCF10A-Er-Src	breast:	n/a	n/a
32	FOSL2	chr1:152190579-152190911	HepG2	liver:	n/a	n/a
33	FOSL2	chr1:152189169-152189516	HepG2	liver:	n/a	n/a
34	FOSL2	chr1:152186953-152187463	HepG2	liver:	n/a	n/a
35	FOSL2	chr1:152188452-152189082	HepG2	liver:	n/a	n/a
36	FOSL2	chr1:152187776-152188091	HepG2	liver:	n/a	n/a
37	FOSL2	chr1:152186054-152186262	HepG2	liver:	n/a	n/a
38	FOSL2	chr1:152186349-152186696	HepG2	liver:	n/a	n/a
39	FOXA2	chr1:152187858-152188454	A549	lung:	n/a	n/a
40	FOXA2	chr1:152186465-152187442	A549	lung:	n/a	n/a
41	GABPA	chr1:152189352-152189452	Hela-S3	cervix:	n/a	n/a
42	GABPA	chr1:152186532-152186632	Hela-S3	cervix:	n/a	n/a
43	GATA2	chr1:152186768-152187012	K562	blood:	n/a	n/a
44	GATA2	chr1:152189588-152189832	K562	blood:	n/a	n/a
45	HEY1	chr1:152187534-152188814	K562	blood:	n/a	n/a
46	HEY1	chr1:152186696-152187070	K562	blood:	n/a	n/a
47	HEY1	chr1:152188816-152190008	K562	blood:	n/a	n/a
48	HEY1	chr1:152188106-152188354	K562	blood:	n/a	n/a
49	HEY1	chr1:152189549-152189844	K562	blood:	n/a	n/a
50	HEY1	chr1:152185996-152187404	K562	blood:	n/a	n/a

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:152196106-152196156	MCF10A-Er-Src	breast:	n/a
2	chr1:152196597-152196647	RPTEC	kidney:	n/a
3	chr1:152190020-152190070	SK-N-MC	brain:	n/a
4	chr1:152193138-152193188	T-47D	breast:	n/a
5	chr1:152191343-152191393	HEK293	kidney:	embryo
6	chr1:152191343-152191393	HRE	kidney:	n/a
7	chr1:152193138-152193188	MCF10A-Er-Src	breast:	n/a
8	chr1:152189015-152189065	GM19239	blood:	n/a
9	chr1:152188247-152188297	HEK293	kidney:	embryo
10	chr1:152189067-152189117	HEK293	kidney:	embryo
11	chr1:152191343-152191393	CMK	blood:	n/a
12	chr1:152196106-152196156	LNCaP	prostate:	n/a
13	chr1:152196597-152196647	IMR90	lung:	fetal
14	chr1:152193177-152193227	HCM	heart:	n/a
15	chr1:152193177-152193227	HepG2	liver:	n/a
16	chr1:152188247-152188297	PANC-1	pancreas:	n/a
17	chr1:152189067-152189117	HCPEpiC	choroid plexus:	n/a
18	chr1:152193177-152193227	HEEpiC	esophagus:	n/a
19	chr1:152189067-152189117	HCF	heart:	n/a
20	chr1:152189067-152189117	AG04450	lung:	fetal
21	chr1:152193138-152193188	H1-hESC	embryonic stem cell:	embryo
22	chr1:152196597-152196647	MCF-7	breast:	n/a
23	chr1:152190972-152191022	HRE	kidney:	n/a
24	chr1:152193138-152193188	AoSMC	blood vessel:	n/a
25	chr1:152188247-152188297	PFSK-1	brain:	n/a
26	chr1:152196415-152196465	NH-A	brain:	n/a
27	chr1:152196415-152196465	HUVEC	blood vessel:	n/a
28	chr1:152196597-152196647	T-47D	breast:	n/a
29	chr1:152196597-152196647	HCF	heart:	n/a
30	chr1:152193138-152193188	ProgFib	skin:	n/a
31	chr1:152189067-152189117	SAEC	small airway:	n/a
32	chr1:152190972-152191022	HPAEpiC	pulmonary alveolar:	n/a
33	chr1:152196597-152196647	AG09309	skin:	n/a
34	chr1:152196106-152196156	PFSK-1	brain:	n/a
35	chr1:152193177-152193227	H1-hESC	embryonic stem cell:	embryo
36	chr1:152188247-152188297	HNPCEpiC	eye:	n/a
37	chr1:152193177-152193227	HUVEC	blood vessel:	n/a
38	chr1:152196106-152196156	ECC-1	luminal epithelium:	n/a
39	chr1:152189015-152189065	HCPEpiC	choroid plexus:	n/a
40	chr1:152193138-152193188	NB4	blood:	n/a
41	chr1:152189015-152189065	SK-N-SH_RA	brain:	n/a
42	chr1:152189015-152189065	BJ	skin:	n/a
43	chr1:152189067-152189117	HCT-116	colon:	n/a
44	chr1:152188247-152188297	AG10803	skin:	n/a
45	chr1:152196106-152196156	HIPEpiC	eye:	n/a
46	chr1:152196415-152196465	HNPCEpiC	eye:	n/a
47	chr1:152190020-152190070	U87	brain:	n/a
48	chr1:152191343-152191393	Hepatocyte	liver:	n/a
49	chr1:152196106-152196156	CMK	blood:	n/a
50	chr1:152190972-152191022	HUVEC	blood vessel:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HRNR-1	chr1:152195593-152195754	NONHSAT006475
2	lnc-HRNR-1	chr1:152193940-152193966	NONHSAT006475
3	lnc-HRNR-1	chr1:152196620-152196669	NONHSAT006475

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	HRNR	hsa-miR-1	chr1:152184850-152184871

Variant related genes	Relation type
HRNR	TF binding region
HRNR	CpG island

Extended variants
information (count: 726 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:726 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368164802	chr1:152184857-152184858	Inactive region	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
2	rs559050897	chr1:152184859-152184860	Inactive region	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
3	rs528121387	chr1:152184862-152184863	Inactive region	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
4	rs534286801	chr1:152185034-152185035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367959802	chr1:152185035-152185036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149636685	chr1:152185046-152185047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35797768	chr1:152185061-152185062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565914956	chr1:152185065-152185066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147306799	chr1:152185066-152185067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4845744	chr1:152185095-152185096	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs574946846	chr1:152185103-152185104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543936653	chr1:152185105-152185106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140943318	chr1:152185115-152185116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185568768	chr1:152185118-152185119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191118610	chr1:152185129-152185130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144792825	chr1:152185137-152185138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528068777	chr1:152185158-152185159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541847576	chr1:152185178-152185179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4845745	chr1:152185184-152185185	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs530497167	chr1:152185185-152185186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545708838	chr1:152185199-152185200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144369469	chr1:152187451-152187452	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs551650370	chr1:152187456-152187457	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs143987598	chr1:152187474-152187475	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs571489109	chr1:152187485-152187486	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs534099891	chr1:152187511-152187512	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs547029257	chr1:152187518-152187519	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs567290240	chr1:152187529-152187530	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs140253785	chr1:152187534-152187535	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs149941277	chr1:152187535-152187536	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs372442402	chr1:152187538-152187539	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs376617048	chr1:152187539-152187540	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs369558991	chr1:152187540-152187541	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs371819063	chr1:152187543-152187544	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs201776795	chr1:152187545-152187546	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs374991925	chr1:152187548-152187549	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs369310118	chr1:152187549-152187550	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs142300652	chr1:152187550-152187551	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs200451128	chr1:152187551-152187552	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs373300484	chr1:152187552-152187553	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs61814935	chr1:152187554-152187555	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs556324473	chr1:152187559-152187560	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs61814936	chr1:152187562-152187563	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs538483303	chr1:152187582-152187583	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs375085736	chr1:152187585-152187586	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs201071455	chr1:152187588-152187589	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs143684430	chr1:152187589-152187590	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs141941422	chr1:152187598-152187599	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs76307787	chr1:152187605-152187606	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs139799138	chr1:152187606-152187607	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	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
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	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
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
Breast cancer	21611746	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
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	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
Follicular lymphoma	18703704	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
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152185000-152185200	Weak transcription	Left Ventricle	heart
2	chr1:152187400-152187800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:152187400-152187800	Active TSS	Colon Smooth Muscle	Colon
4	chr1:152187800-152188200	Active TSS	Fetal Heart	heart
5	chr1:152188000-152188600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
6	chr1:152188200-152188600	ZNF genes & repeats	Pancreas	Pancrea
7	chr1:152188800-152190600	Weak transcription	Pancreas	Pancrea
8	chr1:152191400-152191600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:152191400-152193600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:152191600-152197200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:152192600-152197800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:152192800-152193000	ZNF genes & repeats	Esophagus	oesophagus
13	chr1:152194600-152198400	Weak transcription	Left Ventricle	heart
14	chr1:152196000-152196200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:152196000-152196200	Enhancers	HMEC	breast
16	chr1:152196000-152196200	Enhancers	NHEK	skin
17	chr1:152196200-152197800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:152196200-152197800	Weak transcription	HMEC	breast
19	chr1:152196400-152197800	Weak transcription	NHEK	skin

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