Variant report

Variant	nsv874095
Chromosome Location	chr2:52074452-52174187
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:217)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:217 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:52130909-52131253	ECC-1	luminal epithelium:	n/a	n/a
2	CEBPB	chr2:52126935-52126947	HepG2	liver:	n/a	n/a
3	CEBPB	chr2:52093449-52093880	IMR90	lung:	n/a	n/a
4	CEBPB	chr2:52130882-52131188	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr2:52146418-52146943	Hela-S3	cervix:	n/a	chr2:52146442-52146455
6	CEBPB	chr2:52104076-52104488	HCT-116	colon:	n/a	n/a
7	CEBPB	chr2:52130917-52131217	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr2:52145128-52145645	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr2:52170497-52170767	IMR90	lung:	n/a	chr2:52170622-52170633
10	CEBPB	chr2:52168493-52168547	A549	lung:	n/a	n/a
11	CEBPB	chr2:52107350-52107669	HepG2	liver:	n/a	n/a
12	CEBPB	chr2:52130915-52131235	MCF-7	breast:	n/a	n/a
13	CEBPB	chr2:52130905-52131200	IMR90	lung:	n/a	n/a
14	CEBPB	chr2:52133005-52133191	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr2:52130908-52131192	K562	blood:	n/a	n/a
16	CEBPB	chr2:52145319-52145566	IMR90	lung:	n/a	n/a
17	CEBPB	chr2:52130863-52131276	ECC-1	luminal epithelium:	n/a	n/a
18	CEBPB	chr2:52170578-52170756	HepG2	liver:	n/a	chr2:52170622-52170633
19	CEBPB	chr2:52118783-52118811	HepG2	liver:	n/a	chr2:52118792-52118803
20	CEBPB	chr2:52106555-52106796	HepG2	liver:	n/a	chr2:52106702-52106713
21	CEBPB	chr2:52117644-52117838	HepG2	liver:	n/a	n/a
22	CEBPB	chr2:52130970-52131211	HepG2	liver:	n/a	n/a
23	CEBPB	chr2:52146526-52146921	IMR90	lung:	n/a	n/a
24	CTCF	chr2:52161060-52161210	HepG2	liver:	n/a	n/a
25	CTCF	chr2:52147620-52147677	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr2:52159101-52159196	GM20000	blood:	n/a	n/a
27	CTCF	chr2:52104807-52104860	GM13977	blood:	n/a	n/a
28	CTCF	chr2:52110501-52110617	Lung_OC	lung:	n/a	n/a
29	CTCF	chr2:52136340-52136490	BJ	skin:	n/a	n/a
30	E2F4	chr2:52145310-52145632	MCF10A-Er-Src	breast:	n/a	n/a
31	E2F4	chr2:52146560-52146862	MCF10A-Er-Src	breast:	n/a	n/a
32	E2F4	chr2:52134700-52134881	MCF10A-Er-Src	breast:	n/a	n/a
33	E2F4	chr2:52168670-52168756	MCF10A-Er-Src	breast:	n/a	n/a
34	EP300	chr2:52145425-52145720	SK-N-SH_RA	brain:	n/a	n/a
35	EP300	chr2:52146524-52146950	Hela-S3	cervix:	n/a	chr2:52146546-52146560
36	EP300	chr2:52095081-52095416	ECC-1	luminal epithelium:	n/a	n/a
37	EP300	chr2:52094932-52095504	ECC-1	luminal epithelium:	n/a	chr2:52094950-52094964
38	EP300	chr2:52145287-52145617	Hela-S3	cervix:	n/a	n/a
39	EP300	chr2:52146490-52147051	SK-N-SH	brain:	n/a	chr2:52146546-52146560 chr2:52146957-52146966 chr2:52146953-52146967
40	EP300	chr2:52136627-52136764	GM12878	blood:	n/a	chr2:52136708-52136722
41	EP300	chr2:52113327-52113782	ECC-1	luminal epithelium:	n/a	chr2:52113677-52113691
42	EP300	chr2:52145361-52145722	SK-N-SH_RA	brain:	n/a	n/a
43	ESR1	chr2:52095088-52095361	ECC-1	luminal epithelium:	n/a	n/a
44	ESR1	chr2:52095207-52095461	ECC-1	luminal epithelium:	n/a	n/a
45	FOS	chr2:52145203-52145685	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr2:52093521-52093825	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr2:52145175-52145621	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr2:52145142-52145643	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr2:52093520-52093867	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr2:52093515-52093873	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	2:52132828-52140118..2:52144960-52145427	GM12878	blood:
2	2:51785137-51786126..2:52106672-52112664	GM12878	blood:
3	2:51745267-51754233..2:52106672-52112664	GM12878	blood:
4	chr2:52097711..52099315-chr2:52104533..52106401,2	K562	blood:
5	2:51664217-51674289..2:52112664-52117037	K562	blood:
6	chr11:63952383..63953021-chr2:52077502..52078002,2	Hela-S3	cervix:
7	chr2:52097711..52099315-chr2:52104533..52106401,2	K562	blood:
8	2:51664217-51674289..2:52132828-52140118	H1-hESC	embryonic stem cell:	embryo
9	2:51664217-51674289..2:52100874-52104046	H1-hESC	embryonic stem cell:	embryo
10	2:51675236-51679533..2:52132828-52140118	GM12878	blood:
11	2:52132828-52140118..2:52144960-52145427	GM12878	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHAC2-4	chr2:52088587-52088626	ENSG00000231918.1

No data

Variant related genes	Relation type
ENSG00000226366	TF binding region
ENSG00000230840	TF binding region
ENSG00000168439	chromatin interactions

Extended variants
information (count: 1258 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1258 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554448779	chr2:52077548-52077549	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs192369084	chr2:52077549-52077550	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs536775103	chr2:52077572-52077573	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs554753313	chr2:52077580-52077581	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs28968795	chr2:52077585-52077586	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs565543230	chr2:52077628-52077629	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs183708337	chr2:52077645-52077646	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs558819613	chr2:52077678-52077679	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs565284625	chr2:52077715-52077716	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs372589260	chr2:52077718-52077719	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs200786453	chr2:52077735-52077736	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs576765907	chr2:52077740-52077741	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs540922287	chr2:52077741-52077742	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs60248450	chr2:52077742-52077743	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs527990996	chr2:52077745-52077746	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs529822892	chr2:52077749-52077750	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs547968281	chr2:52077783-52077784	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs188079505	chr2:52077798-52077799	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs541940086	chr2:52077839-52077840	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs555121452	chr2:52077852-52077853	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs113392832	chr2:52077857-52077858	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs541921233	chr2:52077861-52077862	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs563207605	chr2:52077938-52077939	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs530528028	chr2:52077939-52077940	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs551844878	chr2:52077958-52077959	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs570420139	chr2:52077960-52077961	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs143568971	chr2:52077994-52077995	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs569656808	chr2:52088592-52088593	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs139373991	chr2:52107022-52107023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562164544	chr2:52107071-52107072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185050585	chr2:52107111-52107112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11125392	chr2:52107116-52107117	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
33	rs564846629	chr2:52107137-52107138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs117769133	chr2:52107162-52107163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138374339	chr2:52107191-52107192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs28965795	chr2:52107215-52107216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs17868279	chr2:52107220-52107221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs13033522	chr2:52107242-52107243	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs369711918	chr2:52107243-52107244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs28948369	chr2:52107249-52107250	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs551478551	chr2:52107279-52107280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566795996	chr2:52107290-52107291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373406031	chr2:52107293-52107294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533804164	chr2:52107323-52107324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555538366	chr2:52107334-52107335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573472306	chr2:52107340-52107341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542351865	chr2:52107361-52107362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188984213	chr2:52107362-52107363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555874851	chr2:52107367-52107368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114388598	chr2:52107398-52107399	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	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	chr2:52107000-52108400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:52108000-52108400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:52112800-52114200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:52115400-52115800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:52115600-52115800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:52115800-52129400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:52116000-52116800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:52116800-52117200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:52127000-52127400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:52136000-52136400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:52136000-52136600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:52144600-52145600	Enhancers	NHDF-Ad	bronchial
13	chr2:52144600-52147800	Enhancers	Osteobl	bone
14	chr2:52144800-52146400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:52144800-52146600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:52144800-52147400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:52144800-52147600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:52144800-52148000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:52145000-52145600	Enhancers	Adipose Nuclei	Adipose
20	chr2:52145400-52146600	Enhancers	HMEC	breast
21	chr2:52145600-52146200	Weak transcription	NHDF-Ad	bronchial
22	chr2:52146200-52147200	Enhancers	NHDF-Ad	bronchial
23	chr2:52146400-52146600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:52146400-52148200	Enhancers	Hela-S3	cervix
25	chr2:52146600-52147400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:52147000-52147400	Enhancers	NHLF	lung
27	chr2:52147600-52147800	Enhancers	Adipose Nuclei	Adipose
28	chr2:52147600-52148200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:52147800-52151400	Weak transcription	Osteobl	bone
30	chr2:52151400-52151600	ZNF genes & repeats	Osteobl	bone
31	chr2:52166000-52166400	ZNF genes & repeats	Primary T cells from cord blood	blood
32	chr2:52170800-52171200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:52171200-52178800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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