Variant report

Variant	esv2755364
Chromosome Location	chr2:51734676-51792813
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	CEBPB	chr2:51734641-51734960	HepG2	liver:	n/a	chr2:51734787-51734796 chr2:51734785-51734796 chr2:51734785-51734798 chr2:51734787-51734796 chr2:51734784-51734801 chr2:51734787-51734796 chr2:51734787-51734796 chr2:51734786-51734797
2	CEBPB	chr2:51734659-51734923	A549	lung:	n/a	chr2:51734787-51734796 chr2:51734785-51734796 chr2:51734785-51734798 chr2:51734787-51734796 chr2:51734784-51734801 chr2:51734787-51734796 chr2:51734787-51734796 chr2:51734786-51734797
3	CEBPB	chr2:51734625-51735863	IMR90	lung:	n/a	chr2:51734787-51734796 chr2:51734785-51734796 chr2:51734785-51734798 chr2:51734787-51734796 chr2:51734784-51734801 chr2:51734787-51734796 chr2:51734787-51734796 chr2:51734786-51734797
4	CTCF	chr2:51737260-51737410	BE2_C	brain:	n/a	n/a
5	CTCF	chr2:51752332-51752370	LNCaP	prostate:	n/a	n/a
6	CTCF	chr2:51792660-51792810	AG04449	skin:	n/a	n/a
7	CTCF	chr2:51761725-51761750	ProgFib	skin:	n/a	n/a
8	CTCF	chr2:51737136-51737281	IMR90	lung:	n/a	n/a
9	CTCF	chr2:51737160-51737310	HCPEpiC	choroid plexus:	n/a	n/a
10	CTCF	chr2:51737180-51737330	HCPEpiC	choroid plexus:	n/a	n/a
11	CTCF	chr2:51754400-51754550	HBMEC	blood vessel:	n/a	n/a
12	CTCF	chr2:51737180-51737330	AG04449	skin:	n/a	n/a
13	CUX1	chr2:51750308-51750374	GM12878	blood:	n/a	n/a
14	E2F4	chr2:51743896-51744096	MCF10A-Er-Src	breast:	n/a	n/a
15	ELF1	chr2:51738202-51738481	GM12878	blood:	n/a	n/a
16	EP300	chr2:51761338-51761626	SK-N-SH_RA	brain:	n/a	n/a
17	EP300	chr2:51761264-51761537	SK-N-SH_RA	brain:	n/a	n/a
18	EP300	chr2:51762651-51763696	SK-N-SH	brain:	n/a	n/a
19	EP300	chr2:51763145-51763430	SK-N-SH_RA	brain:	n/a	n/a
20	FOS	chr2:51735022-51735236	MCF10A-Er-Src	breast:	n/a	chr2:51735077-51735086
21	FOS	chr2:51735014-51735214	MCF10A-Er-Src	breast:	n/a	chr2:51735077-51735086
22	FOS	chr2:51743860-51744187	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr2:51740613-51740643	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr2:51752929-51753003	MCF10A-Er-Src	breast:	n/a	chr2:51752963-51752972 chr2:51752965-51752972 chr2:51752964-51752972
25	FOS	chr2:51754209-51754532	HUVEC	blood vessel:	n/a	chr2:51754370-51754381
26	FOS	chr2:51754192-51754524	MCF10A-Er-Src	breast:	n/a	chr2:51754370-51754381
27	FOS	chr2:51754218-51754535	MCF10A-Er-Src	breast:	n/a	chr2:51754370-51754381
28	FOS	chr2:51754207-51754540	MCF10A-Er-Src	breast:	n/a	chr2:51754370-51754381
29	FOS	chr2:51735035-51735312	MCF10A-Er-Src	breast:	n/a	chr2:51735077-51735086
30	FOS	chr2:51743718-51744652	HUVEC	blood vessel:	n/a	n/a
31	FOS	chr2:51734673-51735620	HUVEC	blood vessel:	n/a	chr2:51735077-51735086
32	FOS	chr2:51755235-51755467	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr2:51754191-51754543	MCF10A-Er-Src	breast:	n/a	chr2:51754370-51754381
34	GATA2	chr2:51743705-51744627	HUVEC	blood vessel:	n/a	n/a
35	GATA2	chr2:51761384-51761754	SH-SY5Y	brain:	n/a	n/a
36	GATA2	chr2:51769400-51769721	SH-SY5Y	brain:	n/a	n/a
37	IRF1	chr2:51788298-51788308	K562	blood:	n/a	n/a
38	JUN	chr2:51779040-51779240	K562	blood:	n/a	n/a
39	JUN	chr2:51734961-51735624	HUVEC	blood vessel:	n/a	chr2:51735077-51735086
40	JUN	chr2:51743830-51744204	HUVEC	blood vessel:	n/a	n/a
41	JUN	chr2:51754204-51754445	HepG2	liver:	n/a	n/a
42	JUND	chr2:51754187-51754554	HepG2	liver:	n/a	chr2:51754370-51754381
43	JUND	chr2:51754271-51754429	H1-hESC	embryonic stem cell:	n/a	chr2:51754370-51754381
44	JUND	chr2:51748111-51748408	HepG2	liver:	n/a	chr2:51748250-51748259
45	JUND	chr2:51752880-51753118	HepG2	liver:	n/a	chr2:51752963-51752972 chr2:51752962-51752973 chr2:51752965-51752972 chr2:51752964-51752972
46	JUND	chr2:51763101-51763280	HepG2	liver:	n/a	chr2:51763214-51763225
47	MAFF	chr2:51762963-51763252	HepG2	liver:	n/a	n/a
48	MAFF	chr2:51753923-51754272	K562	blood:	n/a	chr2:51754088-51754106 chr2:51754094-51754108
49	MAFF	chr2:51791497-51791650	HepG2	liver:	n/a	chr2:51791565-51791583
50	MAFF	chr2:51753915-51754287	HepG2	liver:	n/a	chr2:51754088-51754106 chr2:51754094-51754108

No.	Distal block	Cell Line	Cell type	Cell Stage
1	2:51664217-51674289..2:51745267-51754233	H1-hESC	embryonic stem cell:	embryo
2	2:51755125-51764739..2:52034460-52043624	K562	blood:
3	2:51733860-51734854..2:51736485-51737129	GM12878	blood:
4	2:51664217-51674289..2:51733860-51734854	H1-hESC	embryonic stem cell:	embryo
5	2:51745267-51754233..2:52043624-52043909	K562	blood:
6	2:51785137-51786126..2:52106672-52112664	GM12878	blood:
7	2:51664217-51674289..2:51764739-51769547	H1-hESC	embryonic stem cell:	embryo
8	2:51745267-51754233..2:52106672-52112664	GM12878	blood:
9	2:51733860-51734854..2:51736485-51737129	GM12878	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHAC2-4	chr2:51754740-51754798	ENSG00000231918.1
2	lnc-CHAC2-12	chr2:51738196-51738621	NONHSAT070659

Variant related genes	Relation type
KNOP1P3	TF binding region

Extended variants
information (count: 629 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:629 , 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	rs1528804	chr2:51734676-51734677	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs138946511	chr2:51734680-51734681	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs7603619	chr2:51734686-51734687	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs28958294	chr2:51734752-51734753	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs572020507	chr2:51734765-51734766	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs550656732	chr2:51734786-51734787	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs377176398	chr2:51734835-51734836	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs539215508	chr2:51734877-51734878	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs7564790	chr2:51734924-51734925	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs186472391	chr2:51734964-51734965	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs536367469	chr2:51734975-51734976	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs143901421	chr2:51735051-51735052	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs567870277	chr2:51735056-51735057	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs529102118	chr2:51735072-51735073	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs1919424	chr2:51735079-51735080	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs558425387	chr2:51735128-51735129	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs576755209	chr2:51735131-51735132	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs68052961	chr2:51735133-51735134	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs550843085	chr2:51735134-51735135	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs1919426	chr2:51735138-51735139	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs546591549	chr2:51735147-51735148	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs529695818	chr2:51735183-51735184	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs566740077	chr2:51735208-51735209	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs541570892	chr2:51735230-51735231	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs201544037	chr2:51735238-51735239	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs13415393	chr2:51735239-51735240	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs185180249	chr2:51735244-51735245	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs191560929	chr2:51735263-51735264	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs563439043	chr2:51735277-51735278	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs182897736	chr2:51735291-51735292	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs530424584	chr2:51735327-51735328	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs188819118	chr2:51735344-51735345	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs565564625	chr2:51735368-51735369	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs532873043	chr2:51735376-51735377	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs555726910	chr2:51735435-51735436	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs547981297	chr2:51735462-51735463	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs566278675	chr2:51735485-51735486	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs1919427	chr2:51735494-51735495	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs148608057	chr2:51735511-51735512	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs537957287	chr2:51735549-51735550	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs2698009	chr2:51735564-51735565	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs577838118	chr2:51735570-51735571	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs143297418	chr2:51735585-51735586	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs558562576	chr2:51735721-51735722	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs550454098	chr2:51735740-51735741	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs576691404	chr2:51735745-51735746	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs146220067	chr2:51735769-51735770	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs552710306	chr2:51735811-51735812	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs115976360	chr2:51735821-51735822	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs192920587	chr2:51735844-51735845	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51734600-51735800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:51734600-51736000	Enhancers	HUVEC	blood vessel
3	chr2:51734600-51736000	Enhancers	NH-A	brain
4	chr2:51734600-51736000	Enhancers	Osteobl	bone
5	chr2:51735000-51735600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:51735600-51740200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:51736000-51737400	Weak transcription	HUVEC	blood vessel
8	chr2:51737200-51737600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:51737400-51737800	Enhancers	HUVEC	blood vessel
10	chr2:51740200-51740600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:51740600-51741800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:51741800-51742400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:51743600-51743800	Enhancers	HUVEC	blood vessel
14	chr2:51743800-51744000	Flanking Active TSS	HUVEC	blood vessel
15	chr2:51744000-51744200	Enhancers	HUVEC	blood vessel
16	chr2:51744200-51744400	Flanking Active TSS	HUVEC	blood vessel
17	chr2:51744400-51744800	Enhancers	HUVEC	blood vessel
18	chr2:51744800-51745800	Weak transcription	HUVEC	blood vessel
19	chr2:51745000-51746800	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr2:51746000-51746200	Enhancers	HUVEC	blood vessel
21	chr2:51746800-51748200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:51748200-51748400	Enhancers	Pancreatic Islets	Pancreatic Islet

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