Variant report

Variant	nsv997993
Chromosome Location	chr1:189774125-189939680
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	ATF1	chr1:189849426-189849494	K562	blood:	n/a	n/a
2	ATF1	chr1:189869294-189869344	K562	blood:	n/a	n/a
3	BACH1	chr1:189774960-189775194	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr1:189821289-189821443	GM12878	blood:	n/a	n/a
5	CBX3	chr1:189828545-189828884	K562	blood:	n/a	n/a
6	CBX3	chr1:189828579-189828874	K562	blood:	n/a	n/a
7	CEBPB	chr1:189818364-189818608	A549	lung:	n/a	n/a
8	CEBPB	chr1:189931361-189931770	HCT-116	colon:	n/a	chr1:189931477-189931488
9	CEBPB	chr1:189931269-189931628	MCF-7	breast:	n/a	chr1:189931477-189931488
10	CEBPB	chr1:189837043-189837350	A549	lung:	n/a	n/a
11	CEBPB	chr1:189864066-189864360	HepG2	liver:	n/a	chr1:189864217-189864230 chr1:189864219-189864228 chr1:189864217-189864228 chr1:189864219-189864228 chr1:189864219-189864228 chr1:189864218-189864229 chr1:189864219-189864228
12	CEBPB	chr1:189911074-189911533	A549	lung:	n/a	n/a
13	CEBPB	chr1:189928860-189929131	IMR90	lung:	n/a	n/a
14	CEBPB	chr1:189931260-189931885	IMR90	lung:	n/a	chr1:189931477-189931488
15	CEBPB	chr1:189931289-189931645	ECC-1	luminal epithelium:	n/a	chr1:189931477-189931488
16	CEBPB	chr1:189928876-189929095	HepG2	liver:	n/a	n/a
17	CEBPB	chr1:189911095-189911381	A549	lung:	n/a	n/a
18	CEBPB	chr1:189931285-189931729	Hela-S3	cervix:	n/a	chr1:189931477-189931488
19	CEBPB	chr1:189931210-189931754	A549	lung:	n/a	chr1:189931477-189931488
20	CEBPB	chr1:189931320-189931616	MCF-7	breast:	n/a	chr1:189931477-189931488
21	CEBPB	chr1:189864108-189864385	IMR90	lung:	n/a	chr1:189864217-189864230 chr1:189864219-189864228 chr1:189864217-189864228 chr1:189864219-189864228 chr1:189864219-189864228 chr1:189864218-189864229 chr1:189864219-189864228
22	CEBPB	chr1:189931297-189931650	HepG2	liver:	n/a	chr1:189931477-189931488
23	CEBPB	chr1:189931188-189931759	HCT-116	colon:	n/a	chr1:189931477-189931488
24	CEBPB	chr1:189818371-189818983	HepG2	liver:	n/a	chr1:189818808-189818821
25	CEBPB	chr1:189931325-189931700	A549	lung:	n/a	chr1:189931477-189931488
26	CEBPB	chr1:189931301-189931644	A549	lung:	n/a	chr1:189931477-189931488
27	CEBPB	chr1:189931343-189931650	K562	blood:	n/a	chr1:189931477-189931488
28	CEBPB	chr1:189939563-189940466	ECC-1	luminal epithelium:	n/a	n/a
29	CEBPB	chr1:189931271-189931675	ECC-1	luminal epithelium:	n/a	chr1:189931477-189931488
30	CEBPB	chr1:189931336-189931662	H1-hESC	embryonic stem cell:	n/a	chr1:189931477-189931488
31	CEBPB	chr1:189929954-189930268	IMR90	lung:	n/a	n/a
32	CHD1	chr1:189867799-189867825	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr1:189828659-189828858	GM12878	blood:	n/a	n/a
34	CTCF	chr1:189828600-189828750	NHLF	lung:	n/a	n/a
35	CTCF	chr1:189828640-189828790	GM12872	blood:	n/a	n/a
36	CTCF	chr1:189828680-189828830	NHDF-neo	bronchial:	n/a	n/a
37	CTCF	chr1:189828487-189828868	K562	blood:	n/a	n/a
38	CTCF	chr1:189828660-189828810	GM12870	blood:	n/a	n/a
39	CTCF	chr1:189828640-189828790	K562	blood:	n/a	n/a
40	CTCF	chr1:189828620-189828770	MCF-7	breast:	n/a	n/a
41	CTCF	chr1:189933840-189933990	Caco-2	colon:	n/a	n/a
42	CTCF	chr1:189828456-189829076	A549	lung:	n/a	n/a
43	CTCF	chr1:189828583-189828832	MCF-7	breast:	n/a	n/a
44	CTCF	chr1:189828540-189828690	HAc	cerebellar:	n/a	n/a
45	CTCF	chr1:189828622-189828809	ProgFib	skin:	n/a	n/a
46	CTCF	chr1:189828620-189828770	AG09309	skin:	n/a	n/a
47	CTCF	chr1:189828581-189828866	LNCaP	prostate:	n/a	n/a
48	CTCF	chr1:189828660-189828810	HMEC	breast:	n/a	n/a
49	CTCF	chr1:189828490-189828921	GM12878	blood:	n/a	n/a
50	CTCF	chr1:189828620-189828770	GM12873	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:189853792..189857239-chr1:189857756..189861653,3	MCF-7	breast:
2	chr1:189813747..189815721-chr1:189850350..189852733,2	K562	blood:
3	chr1:189923172..189925454-chr1:189927431..189929095,2	K562	blood:
4	chr1:189897967..189900169-chr1:190054489..190056512,2	MCF-7	breast:
5	chr1:189828427..189829123-chr1:190093339..190093859,2	MCF-7	breast:
6	chr1:189898658..189901236-chr1:189902072..189905289,4	MCF-7	breast:
7	chr1:189853792..189857239-chr1:189857756..189861653,3	MCF-7	breast:
8	chr1:189922474..189925578-chr1:189926076..189929394,4	MCF-7	breast:
9	chr1:189844299..189845892-chr1:189850457..189852405,2	MCF-7	breast:
10	chr1:189790429..189793066-chr1:189800961..189802500,2	MCF-7	breast:
11	chr1:189939529..189941877-chr13:27345731..27348287,2	MCF-7	breast:
12	chr1:189844299..189845892-chr1:189850457..189852405,2	MCF-7	breast:
13	chr1:189117678..189120245-chr1:189847842..189850269,2	K562	blood:
14	chr1:189778329..189781313-chr1:189784587..189786793,2	MCF-7	breast:
15	chr1:189899347..189901205-chr1:189918005..189920869,2	MCF-7	breast:
16	chr1:189790429..189793066-chr1:189800961..189802500,2	MCF-7	breast:
17	chr1:189778329..189781313-chr1:189784587..189786793,2	MCF-7	breast:
18	chr1:189923172..189925454-chr1:189927431..189929095,2	K562	blood:
19	chr1:189922474..189925578-chr1:189926076..189929394,4	MCF-7	breast:
20	chr1:189899347..189901205-chr1:189918005..189920869,2	MCF-7	breast:
21	chr1:189932756..189935546-chr1:189936578..189938193,2	MCF-7	breast:
22	chr1:189813747..189815721-chr1:189850350..189852733,2	K562	blood:
23	chr1:189898658..189901236-chr1:189902072..189905289,4	MCF-7	breast:
24	chr1:189932756..189935546-chr1:189936578..189938193,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM5C-1	chr1:189837457-189837658	XLOC_001130
2	lnc-FAM5C-1	chr1:189837131-189837342	XLOC_001130
3	lnc-RGS18-7	chr1:189783962-189784048	XLOC_000503

Variant related genes	Relation type
ENSG00000238270	TF binding region
SOX2	miRNA target sites

Extended variants
information (count: 1798 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1798 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113622157	chr1:189774126-189774127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541555265	chr1:189774146-189774147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369328543	chr1:189774149-189774150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372650331	chr1:189774153-189774154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540909642	chr1:189774175-189774176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577138328	chr1:189774184-189774185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532615716	chr1:189774199-189774200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555751795	chr1:189774605-189774606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566088693	chr1:189774617-189774618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117264196	chr1:189774618-189774619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558319378	chr1:189774624-189774625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554930900	chr1:189774641-189774642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11802601	chr1:189774645-189774646	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs12120641	chr1:189774673-189774674	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs556333077	chr1:189774677-189774678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377363296	chr1:189774685-189774686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369240703	chr1:189774722-189774723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147722030	chr1:189774794-189774795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568742030	chr1:189774819-189774820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185302073	chr1:189774829-189774830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142529115	chr1:189774850-189774851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540612088	chr1:189774858-189774859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563882817	chr1:189774957-189774958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200098113	chr1:189774969-189774970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs386637867	chr1:189774970-189774971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372831918	chr1:189774971-189774972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570248526	chr1:189774995-189774996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6657179	chr1:189775142-189775143	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs2039773	chr1:189775183-189775184	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs535059939	chr1:189775207-189775208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545710725	chr1:189775208-189775209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558186552	chr1:189775234-189775235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11799480	chr1:189775267-189775268	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs9662978	chr1:189775277-189775278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537556335	chr1:189775281-189775282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546317026	chr1:189775298-189775299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557147140	chr1:189775311-189775312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576212539	chr1:189775312-189775313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375247331	chr1:189775315-189775316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541642876	chr1:189775350-189775351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550885348	chr1:189775359-189775360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569481144	chr1:189775360-189775361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555671170	chr1:189775370-189775371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572004414	chr1:189775376-189775377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185261757	chr1:189775405-189775406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563752291	chr1:189775433-189775434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189970733	chr1:189775484-189775485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564128725	chr1:189775489-189775490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs386637868	chr1:189775505-189775506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557861969	chr1:189775567-189775568	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Glioblastoma multiforme	21080181	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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	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
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic cancer	17952125	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189773400-189774200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:189774600-189775800	Enhancers	HUVEC	blood vessel
3	chr1:189774800-189775600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:189785400-189786000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:189785600-189786000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:189785600-189786200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:189785600-189786200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:189785600-189786200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:189785800-189786200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:189785800-189786200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:189786200-189789400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:189786200-189789800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:189786200-189789800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:189786200-189790000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:189789000-189789200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:189789400-189790800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:189789400-189792800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:189789800-189790200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:189789800-189790200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr1:189789800-189790600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr1:189790000-189791600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:189790200-189791200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:189790800-189791600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:189791200-189791400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:189791600-189791800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:189801800-189804400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:189802000-189803200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:189803200-189804000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:189804000-189804200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:189806400-189806800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr1:189819400-189819800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr1:189819600-189821400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:189820200-189821400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:189828600-189829200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
35	chr1:189828600-189830800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:189829200-189829800	ZNF genes & repeats	Pancreas	Pancrea
37	chr1:189837200-189837600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:189839800-189841000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr1:189840000-189841000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr1:189840000-189841200	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr1:189840400-189840600	Enhancers	H1 Cell Line	embryonic stem cell
42	chr1:189844400-189845000	Enhancers	Fetal Heart	heart
43	chr1:189868000-189870800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr1:189868200-189868400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr1:189868200-189869600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:189868200-189870000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr1:189868400-189870000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:189868600-189869200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr1:189868600-189870000	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr1:189868800-189869600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links