Variant report

Variant	nsv872636
Chromosome Location	chr1:188822394-188883037
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:177)
CpG islands
(count:122)
Chromatin interactive
region (count:5)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:177 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr1:188857430-188857935	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr1:188861137-188861478	HepG2	liver:	n/a	chr1:188861298-188861309
3	CEBPB	chr1:188861151-188861446	A549	lung:	n/a	chr1:188861298-188861309
4	CEBPB	chr1:188861165-188861434	K562	blood:	n/a	chr1:188861298-188861309
5	CEBPB	chr1:188845139-188845339	HepG2	liver:	n/a	chr1:188845215-188845226 chr1:188845214-188845227
6	CEBPB	chr1:188857462-188857804	IMR90	lung:	n/a	n/a
7	CEBPB	chr1:188861142-188861475	Hela-S3	cervix:	n/a	chr1:188861298-188861309
8	CEBPB	chr1:188861237-188861445	H1-hESC	embryonic stem cell:	n/a	chr1:188861298-188861309
9	CEBPB	chr1:188833745-188833994	HepG2	liver:	n/a	n/a
10	CEBPB	chr1:188857286-188858045	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr1:188861120-188861477	IMR90	lung:	n/a	chr1:188861298-188861309
12	CEBPB	chr1:188854862-188855129	HepG2	liver:	n/a	chr1:188854961-188854974 chr1:188854963-188854974 chr1:188854961-188854972 chr1:188854961-188854974
13	CHD2	chr1:188857543-188857987	Hela-S3	cervix:	n/a	n/a
14	CHD2	chr1:188873380-188873674	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr1:188844030-188844110	GM13976	blood:	n/a	n/a
16	CTCF	chr1:188881440-188881590	AG04450	lung:	n/a	n/a
17	CTCF	chr1:188881460-188881610	HRE	kidney:	n/a	n/a
18	CTCF	chr1:188881440-188881590	GM12865	blood:	n/a	n/a
19	CTCF	chr1:188881500-188881650	HPAF	blood vessel:	n/a	n/a
20	CTCF	chr1:188881453-188881600	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr1:188881440-188881590	HCPEpiC	choroid plexus:	n/a	n/a
22	CTCF	chr1:188881300-188881450	BE2_C	brain:	n/a	n/a
23	CTCF	chr1:188866946-188866995	Lung_OC	lung:	n/a	n/a
24	CTCF	chr1:188881509-188881582	MCF-7	breast:	n/a	n/a
25	CTCF	chr1:188881500-188881650	RPTEC	kidney:	n/a	n/a
26	CTCF	chr1:188881440-188881590	HMEC	breast:	n/a	n/a
27	CTCF	chr1:188881560-188881710	MCF-7	breast:	n/a	n/a
28	CTCF	chr1:188881480-188881630	HPAF	blood vessel:	n/a	n/a
29	CTCF	chr1:188881460-188881610	HRPEpiC	eye:	n/a	n/a
30	CTCF	chr1:188881344-188881706	MCF-7	breast:	n/a	n/a
31	CTCF	chr1:188881480-188881630	MCF-7	breast:	n/a	n/a
32	CTCF	chr1:188847422-188847457	Kidney_OC	kidney:	n/a	n/a
33	CTCF	chr1:188827164-188827243	GM10266	blood:	n/a	n/a
34	CTCF	chr1:188881420-188881570	HMEC	breast:	n/a	n/a
35	CTCF	chr1:188881444-188881661	GM12878	blood:	n/a	n/a
36	E2F4	chr1:188859185-188859360	MCF10A-Er-Src	breast:	n/a	n/a
37	E2F4	chr1:188863616-188863912	MCF10A-Er-Src	breast:	n/a	n/a
38	E2F4	chr1:188880857-188881016	MCF10A-Er-Src	breast:	n/a	n/a
39	EP300	chr1:188872035-188872899	SK-N-SH	brain:	n/a	chr1:188872712-188872726 chr1:188872713-188872727 chr1:188872078-188872092
40	EP300	chr1:188862368-188862984	MCF-7	breast:	n/a	n/a
41	EP300	chr1:188857367-188857999	SK-N-SH_RA	brain:	n/a	n/a
42	EP300	chr1:188872297-188872709	SK-N-SH_RA	brain:	n/a	n/a
43	EP300	chr1:188872264-188872735	SK-N-SH_RA	brain:	n/a	chr1:188872712-188872726 chr1:188872713-188872727
44	EP300	chr1:188857339-188858091	Hela-S3	cervix:	n/a	n/a
45	EP300	chr1:188857328-188858092	SK-N-SH	brain:	n/a	n/a
46	EP300	chr1:188857333-188857989	SK-N-SH_RA	brain:	n/a	n/a
47	EP300	chr1:188873366-188873692	SK-N-SH_RA	brain:	n/a	n/a
48	EP300	chr1:188873401-188873649	Hela-S3	cervix:	n/a	n/a
49	EP300	chr1:188862410-188863143	MCF-7	breast:	n/a	n/a
50	FOS	chr1:188857510-188857983	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:188826823-188826873	HIPEpiC	eye:	n/a
2	chr1:188826889-188826939	GM12891	blood:	n/a
3	chr1:188826823-188826873	CMK	blood:	n/a
4	chr1:188826823-188826873	GM12891	blood:	n/a
5	chr1:188826889-188826939	HCT-116	colon:	n/a
6	chr1:188826889-188826939	HAEpiC	amniotic membrane:	n/a
7	chr1:188826889-188826939	MCF-7	breast:	n/a
8	chr1:188826889-188826939	HCM	heart:	n/a
9	chr1:188826889-188826939	SKMC	muscle:	n/a
10	chr1:188826823-188826873	HEK293	kidney:	embryo
11	chr1:188826823-188826873	ECC-1	luminal epithelium:	n/a
12	chr1:188826823-188826873	PrEC	prostate:	n/a
13	chr1:188826889-188826939	PANC-1	pancreas:	n/a
14	chr1:188826889-188826939	HepG2	liver:	n/a
15	chr1:188826823-188826873	NH-A	brain:	n/a
16	chr1:188826823-188826873	RPTEC	kidney:	n/a
17	chr1:188826889-188826939	HEEpiC	esophagus:	n/a
18	chr1:188826889-188826939	Hepatocyte	liver:	n/a
19	chr1:188826823-188826873	HRCEpiC	kidney:	n/a
20	chr1:188826823-188826873	ovcar-3	ovarian:	n/a
21	chr1:188826889-188826939	GM12892	blood:	n/a
22	chr1:188826823-188826873	HUVEC	blood vessel:	n/a
23	chr1:188826889-188826939	NT2-D1	testis:	n/a
24	chr1:188826823-188826873	GM12878	blood:	n/a
25	chr1:188826889-188826939	HCF	heart:	n/a
26	chr1:188826823-188826873	HCM	heart:	n/a
27	chr1:188826889-188826939	U87	brain:	n/a
28	chr1:188826823-188826873	GM06990	blood:	n/a
29	chr1:188826823-188826873	PFSK-1	brain:	n/a
30	chr1:188826823-188826873	HEEpiC	esophagus:	n/a
31	chr1:188826889-188826939	NH-A	brain:	n/a
32	chr1:188826889-188826939	GM12878	blood:	n/a
33	chr1:188826823-188826873	AG09309	skin:	n/a
34	chr1:188826889-188826939	LNCaP	prostate:	n/a
35	chr1:188826823-188826873	HCT-116	colon:	n/a
36	chr1:188826889-188826939	RPTEC	kidney:	n/a
37	chr1:188826889-188826939	Hela-S3	cervix:	n/a
38	chr1:188826889-188826939	AG04449	skin:	fetal
39	chr1:188826823-188826873	HCF	heart:	n/a
40	chr1:188826823-188826873	HRPEpiC	eye:	n/a
41	chr1:188826889-188826939	BE2_C	brain:	n/a
42	chr1:188826823-188826873	Caco-2	colon:	n/a
43	chr1:188826823-188826873	NT2-D1	testis:	n/a
44	chr1:188826823-188826873	T-47D	breast:	n/a
45	chr1:188826823-188826873	NHDF-neo	bronchial:	n/a
46	chr1:188826823-188826873	ProgFib	skin:	n/a
47	chr1:188826823-188826873	K562	blood:	n/a
48	chr1:188826823-188826873	SK-N-SH_RA	brain:	n/a
49	chr1:188826889-188826939	NB4	blood:	n/a
50	chr1:188826889-188826939	H1-hESC	embryonic stem cell:	embryo

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:188866159..188868933-chr1:188870871..188872423,2	MCF-7	breast:
2	chr1:188866159..188868933-chr1:188870871..188872423,2	MCF-7	breast:
3	chr1:188846061..188848491-chr1:188851171..188853585,2	MCF-7	breast:
4	chr1:188401580..188402198-chr1:188862429..188863519,3	MCF-7	breast:
5	chr1:188846061..188848491-chr1:188851171..188853585,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM5C-2	chr1:188838608-188838879	XLOC_001129
2	lnc-PLA2G4A-17	chr1:188860643-188860786	refGeneNc_416_NR_033922
3	lnc-PLA2G4A-6	chr1:188874819-188875057	ENSG00000226486
4	lnc-FAM5C-2	chr1:188856372-188856565	XLOC_001129

No data

Variant related genes	Relation type
LINC01035	TF binding region
ENSG00000238054	TF binding region
LINC01035	CpG island
ENSG00000238054	CpG island
KIAA0494	miRNA target sites

Extended variants
information (count: 657 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:657 , 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	rs538497596	chr1:188823822-188823823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114174598	chr1:188823837-188823838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142478718	chr1:188823860-188823861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187342332	chr1:188823871-188823872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75989252	chr1:188823888-188823889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553198144	chr1:188823899-188823900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7522903	chr1:188823935-188823936	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs567069245	chr1:188823984-188823985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547513603	chr1:188823990-188823991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192136736	chr1:188824059-188824060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114476493	chr1:188824126-188824127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs58682111	chr1:188824143-188824144	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs370080966	chr1:188824168-188824169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201512637	chr1:188824240-188824241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184535759	chr1:188824247-188824248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs57034594	chr1:188824248-188824249	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs574608243	chr1:188824249-188824250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189150809	chr1:188824274-188824275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560682046	chr1:188824289-188824290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79220671	chr1:188824432-188824433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192200217	chr1:188824478-188824479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141677469	chr1:188824491-188824492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566060335	chr1:188824495-188824496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532063430	chr1:188824559-188824560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548893793	chr1:188824575-188824576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568645919	chr1:188824576-188824577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73070837	chr1:188824596-188824597	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs184419514	chr1:188824597-188824598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113105626	chr1:188826620-188826621	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs563694162	chr1:188826621-188826622	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs531455157	chr1:188826623-188826624	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs548006413	chr1:188826629-188826630	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs149746632	chr1:188826631-188826632	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs533873102	chr1:188826644-188826645	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs111805586	chr1:188826646-188826647	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs547414988	chr1:188826647-188826648	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs182394955	chr1:188826659-188826660	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs368917909	chr1:188826660-188826661	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs539707265	chr1:188826699-188826700	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs544093144	chr1:188826705-188826706	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs556409804	chr1:188826720-188826721	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs569723667	chr1:188826750-188826751	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs187031599	chr1:188826765-188826766	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs555615509	chr1:188826767-188826768	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs572497896	chr1:188826772-188826773	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs534699278	chr1:188826782-188826783	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs557689967	chr1:188826787-188826788	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs577928911	chr1:188826789-188826790	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs114823203	chr1:188826792-188826793	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs13376607	chr1:188826794-188826795	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:86)

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
Chronic lymphocytic leukemia	21546498	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
Myelofibrosis	22110671	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:188823800-188824200	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr1:188823800-188824600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr1:188824200-188824600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr1:188826600-188826800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:188826600-188827000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:188826600-188827200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:188826800-188827000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:188827000-188827200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:188835000-188835400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:188846600-188847200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:188846600-188847600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:188854400-188855000	Enhancers	Hela-S3	cervix
13	chr1:188855000-188855800	Weak transcription	Hela-S3	cervix
14	chr1:188855800-188856400	Enhancers	Hela-S3	cervix
15	chr1:188856400-188857600	Flanking Active TSS	Hela-S3	cervix
16	chr1:188857200-188858000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:188857600-188859200	Weak transcription	Hela-S3	cervix
18	chr1:188859200-188859600	Enhancers	Hela-S3	cervix
19	chr1:188869600-188869800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr1:188869800-188872000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr1:188872000-188872200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr1:188872200-188873000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:188873000-188874000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr1:188873200-188873600	Enhancers	H9 Cell Line	embryonic stem cell
25	chr1:188873200-188873800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr1:188873400-188873800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr1:188873400-188873800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr1:188873400-188873800	Enhancers	Hela-S3	cervix
29	chr1:188873400-188874000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:188873400-188874000	Enhancers	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links