Variant report

Variant	nsv547995
Chromosome Location	chr1:158715773-158729346
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	BHLHE40	chr1:158726549-158726678	K562	blood:	n/a	chr1:158726580-158726593 chr1:158726576-158726597
2	CEBPB	chr1:158722942-158723176	Hela-S3	cervix:	n/a	chr1:158723040-158723051 chr1:158723037-158723054 chr1:158723040-158723053
3	CEBPB	chr1:158722931-158723169	IMR90	lung:	n/a	chr1:158723040-158723051 chr1:158723037-158723054 chr1:158723040-158723053
4	CEBPB	chr1:158722945-158723184	H1-hESC	embryonic stem cell:	n/a	chr1:158723040-158723051 chr1:158723037-158723054 chr1:158723040-158723053
5	CEBPB	chr1:158719042-158719256	HepG2	liver:	n/a	chr1:158719183-158719196 chr1:158719183-158719194
6	CEBPB	chr1:158719103-158719306	A549	lung:	n/a	chr1:158719183-158719196 chr1:158719183-158719194
7	CEBPB	chr1:158722871-158723208	K562	blood:	n/a	chr1:158723040-158723051 chr1:158723037-158723054 chr1:158723040-158723053
8	CEBPB	chr1:158722864-158723064	A549	lung:	n/a	chr1:158723040-158723051 chr1:158723037-158723054 chr1:158723040-158723053
9	CEBPB	chr1:158722946-158723214	HepG2	liver:	n/a	chr1:158723040-158723051 chr1:158723037-158723054 chr1:158723040-158723053
10	CTCF	chr1:158722251-158722361	K562	blood:	n/a	n/a
11	CTCF	chr1:158722200-158722406	K562	blood:	n/a	n/a
12	EP300	chr1:158726020-158726029	K562	blood:	n/a	n/a
13	MAFK	chr1:158727192-158727257	HepG2	liver:	n/a	chr1:158727240-158727249
14	POLR2A	chr1:158726409-158726456	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr1:158724571-158724708	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:158723939-158723989	GM12878	blood:	n/a
2	chr1:158724794-158724844	HL-60	blood:	n/a
3	chr1:158725300-158725350	HL-60	blood:	n/a
4	chr1:158725300-158725350	NB4	blood:	n/a
5	chr1:158724057-158724107	HNPCEpiC	eye:	n/a
6	chr1:158724362-158724412	NH-A	brain:	n/a
7	chr1:158724794-158724844	ProgFib	skin:	n/a
8	chr1:158725300-158725350	MCF-7	breast:	n/a
9	chr1:158724794-158724844	BJ	skin:	n/a
10	chr1:158723939-158723989	BE2_C	brain:	n/a
11	chr1:158723939-158723989	SKMC	muscle:	n/a
12	chr1:158723939-158723989	H1-hESC	embryonic stem cell:	embryo
13	chr1:158724057-158724107	GM12892	blood:	n/a
14	chr1:158724362-158724412	CMK	blood:	n/a
15	chr1:158724057-158724107	HIPEpiC	eye:	n/a
16	chr1:158723939-158723989	A549	lung:	n/a
17	chr1:158724794-158724844	ECC-1	luminal epithelium:	n/a
18	chr1:158723939-158723989	GM19239	blood:	n/a
19	chr1:158725300-158725350	HepG2	liver:	n/a
20	chr1:158725300-158725350	HAEpiC	amniotic membrane:	n/a
21	chr1:158724794-158724844	HAEpiC	amniotic membrane:	n/a
22	chr1:158724362-158724412	Hepatocyte	liver:	n/a
23	chr1:158723939-158723989	RPTEC	kidney:	n/a
24	chr1:158723939-158723989	NHBE	bronchial:	n/a
25	chr1:158724057-158724107	HEEpiC	esophagus:	n/a
26	chr1:158723939-158723989	ProgFib	skin:	n/a
27	chr1:158725300-158725350	HPAEpiC	pulmonary alveolar:	n/a
28	chr1:158723939-158723989	ovcar-3	ovarian:	n/a
29	chr1:158724362-158724412	ProgFib	skin:	n/a
30	chr1:158724362-158724412	Caco-2	colon:	n/a
31	chr1:158724794-158724844	HUVEC	blood vessel:	n/a
32	chr1:158724362-158724412	HCM	heart:	n/a
33	chr1:158725300-158725350	SAEC	small airway:	n/a
34	chr1:158724794-158724844	HCPEpiC	choroid plexus:	n/a
35	chr1:158725300-158725350	GM19239	blood:	n/a
36	chr1:158725300-158725350	SK-N-MC	brain:	n/a
37	chr1:158724362-158724412	ECC-1	luminal epithelium:	n/a
38	chr1:158724362-158724412	LNCaP	prostate:	n/a
39	chr1:158724362-158724412	HEEpiC	esophagus:	n/a
40	chr1:158724057-158724107	AG04450	lung:	fetal
41	chr1:158723939-158723989	SAEC	small airway:	n/a
42	chr1:158723939-158723989	K562	blood:	n/a
43	chr1:158724362-158724412	GM19239	blood:	n/a
44	chr1:158725300-158725350	Caco-2	colon:	n/a
45	chr1:158724362-158724412	HUVEC	blood vessel:	n/a
46	chr1:158725300-158725350	PFSK-1	brain:	n/a
47	chr1:158724362-158724412	HAEpiC	amniotic membrane:	n/a
48	chr1:158724057-158724107	SK-N-SH_RA	brain:	n/a
49	chr1:158725300-158725350	NH-A	brain:	n/a
50	chr1:158724794-158724844	T-47D	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:158715265..158717778-chr1:158778694..158781362,2	K562	blood:
2	chr1:158651114..158653909-chr1:158727740..158729801,2	K562	blood:
3	chr1:158702009..158703945-chr1:158717255..158718973,2	K562	blood:

Variant related genes	Relation type
OR6K5P	TF binding region
OR6K6	TF binding region
OR6K5P	CpG island
OR6K6	CpG island
ENSG00000180409	chromatin interactions

Extended variants
information (count: 614 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:614 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71574368	chr1:158715773-158715774	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs453474	chr1:158715775-158715776	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs535874587	chr1:158715853-158715854	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs548228832	chr1:158715854-158715855	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs207460492	chr1:158715857-158715858	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs186833605	chr1:158715887-158715888	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs535191632	chr1:158715897-158715898	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs546872269	chr1:158715928-158715929	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs191632413	chr1:158715947-158715948	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs553129291	chr1:158715960-158715961	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs577850513	chr1:158715963-158715964	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs116424393	chr1:158715974-158715975	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs557277149	chr1:158716004-158716005	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs426280	chr1:158716017-158716018	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs77162335	chr1:158716068-158716069	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs378450	chr1:158716072-158716073	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs573275899	chr1:158716073-158716074	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs540759341	chr1:158716106-158716107	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs74401465	chr1:158716143-158716144	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs379845	chr1:158716190-158716191	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs379121	chr1:158716221-158716222	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs562782424	chr1:158716337-158716338	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs529659408	chr1:158716376-158716377	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs146421690	chr1:158716377-158716378	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs549230430	chr1:158716403-158716404	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs35403167	chr1:158716425-158716426	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs140752498	chr1:158716445-158716446	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs184258783	chr1:158716472-158716473	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs187402575	chr1:158716488-158716489	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs571503712	chr1:158716491-158716492	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs566454830	chr1:158716519-158716520	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs377140861	chr1:158716537-158716538	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs538848626	chr1:158716540-158716541	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs452108	chr1:158716549-158716550	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs569464356	chr1:158716601-158716602	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs404843	chr1:158716620-158716621	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs554641128	chr1:158716641-158716642	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs573232273	chr1:158716671-158716672	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs1429859	chr1:158716675-158716676	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs115063004	chr1:158716702-158716703	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs432299	chr1:158716712-158716713	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs374094026	chr1:158716777-158716778	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs562744792	chr1:158716779-158716780	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs529925260	chr1:158716822-158716823	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs377719412	chr1:158716851-158716852	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs370330240	chr1:158716855-158716856	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs79156032	chr1:158716900-158716901	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs559882848	chr1:158716933-158716934	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs527327413	chr1:158716946-158716947	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs551807001	chr1:158717051-158717052	Weak transcription	Chromatin interactive region	1 gene(s)	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158692600-158735200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr1:158721800-158722200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:158722400-158724800	Enhancers	Fetal Heart	heart

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