Variant report

Variant	nsv581879
Chromosome Location	chr2:51639748-51673576
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:109)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:109 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:51649795-51650072	IMR90	lung:	n/a	chr2:51649938-51649951 chr2:51649940-51649951 chr2:51649940-51649949 chr2:51649938-51649949
2	CEBPB	chr2:51649853-51650053	A549	lung:	n/a	chr2:51649938-51649951 chr2:51649940-51649951 chr2:51649940-51649949 chr2:51649938-51649949
3	CEBPB	chr2:51649827-51650097	HepG2	liver:	n/a	chr2:51649938-51649951 chr2:51649940-51649951 chr2:51650062-51650074 chr2:51649940-51649949 chr2:51649938-51649949
4	CTCF	chr2:51651700-51651850	WERI-Rb-1	eye:	n/a	n/a
5	CTCF	chr2:51651646-51651818	HUVEC	blood vessel:	n/a	n/a
6	CTCF	chr2:51651620-51651770	HepG2	liver:	n/a	n/a
7	CTCF	chr2:51664014-51664109	GM10248	blood:	n/a	n/a
8	CTCF	chr2:51651640-51651790	HEK293	kidney:	n/a	n/a
9	CTCF	chr2:51651680-51651830	AG04449	skin:	n/a	n/a
10	CTCF	chr2:51651660-51651810	HEEpiC	esophagus:	n/a	n/a
11	CTCF	chr2:51651732-51651804	MCF-7	breast:	n/a	n/a
12	CTCF	chr2:51651678-51651761	MCF-7	breast:	n/a	n/a
13	CTCF	chr2:51651746-51651797	HepG2	liver:	n/a	n/a
14	CTCF	chr2:51651640-51651790	HBMEC	blood vessel:	n/a	n/a
15	CTCF	chr2:51651600-51651750	HPAF	blood vessel:	n/a	n/a
16	CTCF	chr2:51651660-51651810	NHEK	skin:	n/a	n/a
17	CTCF	chr2:51651620-51651770	HUVEC	blood vessel:	n/a	n/a
18	CTCF	chr2:51651605-51651888	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr2:51651654-51651829	MCF-7	breast:	n/a	n/a
20	CTCF	chr2:51651640-51651790	AG04449	skin:	n/a	n/a
21	CTCF	chr2:51651620-51651770	HEEpiC	esophagus:	n/a	n/a
22	CTCF	chr2:51651640-51651790	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr2:51651680-51651830	HMEC	breast:	n/a	n/a
24	CTCF	chr2:51651630-51651841	ProgFib	skin:	n/a	n/a
25	CTCF	chr2:51651557-51651940	IMR90	lung:	n/a	n/a
26	CTCF	chr2:51651625-51651835	GM12878	blood:	n/a	n/a
27	CTCF	chr2:51651620-51651770	A549	lung:	n/a	n/a
28	CTCF	chr2:51651677-51651815	GM12891	blood:	n/a	n/a
29	CTCF	chr2:51651860-51652010	GM12871	blood:	n/a	n/a
30	CTCF	chr2:51651673-51651802	A549	lung:	n/a	n/a
31	CTCF	chr2:51651580-51651730	HCT-116	colon:	n/a	n/a
32	CTCF	chr2:51651660-51651810	GM12873	blood:	n/a	n/a
33	CTCF	chr2:51651940-51652090	A549	lung:	n/a	n/a
34	CTCF	chr2:51651620-51651770	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr2:51651640-51651790	HUVEC	blood vessel:	n/a	n/a
36	CTCF	chr2:51651660-51651810	WERI-Rb-1	eye:	n/a	n/a
37	CTCF	chr2:51651700-51651850	HCT-116	colon:	n/a	n/a
38	CTCF	chr2:51651660-51651810	HPAF	blood vessel:	n/a	n/a
39	CTCF	chr2:51651730-51651770	Pancreas_OC	pancreas:	n/a	n/a
40	CTCF	chr2:51651644-51651832	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr2:51651629-51651847	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr2:51651565-51651911	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr2:51651580-51651730	BE2_C	brain:	n/a	n/a
44	CTCF	chr2:51651600-51651750	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr2:51651607-51651870	Gliobla	brain:	n/a	n/a
46	CTCF	chr2:51651680-51651830	HCFaa	heart:	n/a	n/a
47	CTCF	chr2:51651660-51651810	HCPEpiC	choroid plexus:	n/a	n/a
48	CTCF	chr2:51651600-51651750	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr2:51651600-51651750	BE2_C	brain:	n/a	n/a
50	CTCF	chr2:51651700-51651850	HCPEpiC	choroid plexus:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	2:51664217-51674289..2:51887872-51889464	H1-hESC	embryonic stem cell:	embryo
2	2:51664217-51674289..2:51908308-51914662	H1-hESC	embryonic stem cell:	embryo
3	2:51664217-51674289..2:52034460-52043624	GM12878	blood:
4	2:51664217-51674289..2:52043909-52049825	H1-hESC	embryonic stem cell:	embryo
5	2:51664217-51674289..2:51974300-51979334	H1-hESC	embryonic stem cell:	embryo
6	2:51664217-51674289..2:52055539-52058793	H1-hESC	embryonic stem cell:	embryo
7	2:51664217-51674289..2:51745267-51754233	H1-hESC	embryonic stem cell:	embryo
8	2:51664217-51674289..2:51733860-51734854	H1-hESC	embryonic stem cell:	embryo
9	chr2:51656541..51659488-chr2:51660132..51662830,2	K562	blood:
10	2:51664217-51674289..2:52100874-52104046	H1-hESC	embryonic stem cell:	embryo
11	2:51664217-51674289..2:52006946-52008886	H1-hESC	embryonic stem cell:	embryo
12	2:51664217-51674289..2:51764739-51769547	H1-hESC	embryonic stem cell:	embryo
13	2:51664217-51674289..2:51983874-51990011	GM12878	blood:
14	2:51664217-51674289..2:52112664-52117037	K562	blood:
15	2:51664217-51674289..2:51674430-51675236	H1-hESC	embryonic stem cell:	embryo
16	2:51664217-51674289..2:52132828-52140118	H1-hESC	embryonic stem cell:	embryo
17	2:51664217-51674289..2:51942985-51943865	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
ENSG00000222692	TF binding region
ENSG00000222692	chromatin interactions

Extended variants
information (count: 349 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:349 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570255209	chr2:51640824-51640825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181732285	chr2:51640844-51640845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185162457	chr2:51640845-51640846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377012177	chr2:51640881-51640882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189034592	chr2:51640912-51640913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560994423	chr2:51640917-51640918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9309212	chr2:51640946-51640947	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs539704132	chr2:51640973-51640974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557496734	chr2:51640977-51640978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374068713	chr2:51640983-51640984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs367967451	chr2:51640999-51641000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139882243	chr2:51641048-51641049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555508625	chr2:51641062-51641063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370833544	chr2:51641076-51641077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375125334	chr2:51641085-51641086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542464991	chr2:51641133-51641134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181530617	chr2:51641142-51641143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575885568	chr2:51641163-51641164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546455189	chr2:51641197-51641198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564374840	chr2:51641202-51641203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528478958	chr2:51641232-51641233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546551671	chr2:51641241-51641242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76551035	chr2:51641258-51641259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149432444	chr2:51641283-51641284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78697047	chr2:51641317-51641318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533899635	chr2:51641337-51641338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569009298	chr2:51641340-51641341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539394800	chr2:51641354-51641355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144820102	chr2:51641362-51641363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78883617	chr2:51641390-51641391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533772227	chr2:51641407-51641408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555371843	chr2:51641420-51641421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186262254	chr2:51641444-51641445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114202444	chr2:51641467-51641468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557300590	chr2:51641479-51641480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575792120	chr2:51641480-51641481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546221881	chr2:51641507-51641508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372959993	chr2:51641525-51641526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368280722	chr2:51641526-51641527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148616710	chr2:51641608-51641609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573156084	chr2:51641638-51641639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540254293	chr2:51641663-51641664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs72885502	chr2:51641670-51641671	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs529372142	chr2:51641692-51641693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115578535	chr2:51641694-51641695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143194938	chr2:51641696-51641697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555927205	chr2:51641744-51641745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76925958	chr2:51641762-51641763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192066213	chr2:51641792-51641793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115647062	chr2:51648040-51648041	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Non-syndromic sensorineural hearing loss	15273396	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51640800-51641600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:51640800-51641800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:51648000-51648400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:51651800-51652200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:51672200-51672400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:51672400-51677800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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