Variant report

Variant	esv3411625
Chromosome Location	chr2:56409873-56412421
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:406)
CpG islands
(count:1343)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:406 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr2:56410617-56410948	A549	lung:	n/a	n/a
2	BACH1	chr2:56410838-56411083	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr2:56410720-56411023	GM12878	blood:	n/a	chr2:56410938-56410954
4	BHLHE40	chr2:56410676-56411058	K562	blood:	n/a	chr2:56410938-56410954
5	BRCA1	chr2:56410869-56411032	HepG2	liver:	n/a	n/a
6	BRCA1	chr2:56410728-56411043	Hela-S3	cervix:	n/a	n/a
7	CBX3	chr2:56410715-56411041	K562	blood:	n/a	n/a
8	CCNT2	chr2:56410720-56412079	K562	blood:	n/a	chr2:56410970-56410979
9	CHD1	chr2:56411367-56411420	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr2:56410830-56411091	K562	blood:	n/a	n/a
11	CHD2	chr2:56410742-56411046	Hela-S3	cervix:	n/a	n/a
12	CHD2	chr2:56410725-56411442	H1-hESC	embryonic stem cell:	n/a	n/a
13	CREB1	chr2:56410689-56411053	A549	lung:	n/a	n/a
14	CTBP2	chr2:56410673-56413313	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr2:56410405-56411276	A549	lung:	n/a	n/a
16	CTCF	chr2:56410712-56410995	ProgFib	skin:	n/a	n/a
17	CTCF	chr2:56410740-56410890	HCM	heart:	n/a	n/a
18	CTCF	chr2:56410740-56410890	HRE	kidney:	n/a	n/a
19	CTCF	chr2:56410780-56410930	HUVEC	blood vessel:	n/a	n/a
20	CTCF	chr2:56410760-56410910	GM12872	blood:	n/a	n/a
21	CTCF	chr2:56412406-56412647	MCF-7	breast:	n/a	n/a
22	CTCF	chr2:56410760-56410910	BJ	skin:	n/a	n/a
23	CTCF	chr2:56410760-56410910	GM12874	blood:	n/a	n/a
24	CTCF	chr2:56410780-56410930	SAEC	small airway:	n/a	n/a
25	CTCF	chr2:56410646-56411048	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr2:56410760-56410910	AG09319	gingival:	n/a	n/a
27	CTCF	chr2:56410718-56410991	GM19239	blood:	n/a	n/a
28	CTCF	chr2:56410780-56410930	GM12875	blood:	n/a	n/a
29	CTCF	chr2:56410780-56410930	HMEC	breast:	n/a	n/a
30	CTCF	chr2:56411290-56411293	MCF-7	breast:	n/a	n/a
31	CTCF	chr2:56410701-56411020	A549	lung:	n/a	n/a
32	CTCF	chr2:56410760-56410910	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr2:56410710-56410993	GM10266	blood:	n/a	n/a
34	CTCF	chr2:56410760-56410910	HRPEpiC	eye:	n/a	n/a
35	CTCF	chr2:56410760-56410910	A549	lung:	n/a	n/a
36	CTCF	chr2:56410780-56410930	WERI-Rb-1	eye:	n/a	n/a
37	CTCF	chr2:56410780-56410930	HPAF	blood vessel:	n/a	n/a
38	CTCF	chr2:56410760-56410910	HBMEC	blood vessel:	n/a	n/a
39	CTCF	chr2:56410760-56410910	HAc	cerebellar:	n/a	n/a
40	CTCF	chr2:56412420-56412570	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr2:56410760-56410910	HEK293	kidney:	n/a	n/a
42	CTCF	chr2:56409820-56409970	BJ	skin:	n/a	n/a
43	CTCF	chr2:56410780-56410930	GM12873	blood:	n/a	n/a
44	CTCF	chr2:56410650-56410974	A549	lung:	n/a	n/a
45	CTCF	chr2:56410569-56411145	MCF-7	breast:	n/a	n/a
46	CTCF	chr2:56410780-56410930	GM12865	blood:	n/a	n/a
47	CTCF	chr2:56410780-56410930	AG04450	lung:	n/a	n/a
48	CTCF	chr2:56410760-56410910	HMF	breast:	n/a	n/a
49	CTCF	chr2:56410743-56410970	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr2:56410400-56410550	AoAF	blood vessel:	n/a	n/a

(count:1343 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:56410509-56410559	AG09309	skin:	n/a
2	chr2:56410509-56410559	AG09309	skin:	n/a
3	chr2:56410300-56410350	Hela-S3	cervix:	n/a
4	chr2:56410288-56410338	HL-60	blood:	n/a
5	chr2:56412077-56412127	HMEC	breast:	n/a
6	chr2:56410288-56410338	ovcar-3	ovarian:	n/a
7	chr2:56411583-56411633	AG09309	skin:	n/a
8	chr2:56410011-56410061	MCF10A-Er-Src	breast:	n/a
9	chr2:56410382-56410432	HPAEpiC	pulmonary alveolar:	n/a
10	chr2:56410011-56410061	HL-60	blood:	n/a
11	chr2:56410300-56410350	NHBE	bronchial:	n/a
12	chr2:56410071-56410121	NHDF-neo	bronchial:	n/a
13	chr2:56411583-56411633	U87	brain:	n/a
14	chr2:56410071-56410121	SKMC	muscle:	n/a
15	chr2:56410143-56410193	Jurkat	blood:	n/a
16	chr2:56410509-56410559	PFSK-1	brain:	n/a
17	chr2:56411447-56411497	HRPEpiC	eye:	n/a
18	chr2:56410011-56410061	GM12891	blood:	n/a
19	chr2:56410382-56410432	AG09319	gingival:	n/a
20	chr2:56410676-56410726	HIPEpiC	eye:	n/a
21	chr2:56410114-56410164	PANC-1	pancreas:	n/a
22	chr2:56410509-56410559	SK-N-SH	brain:	n/a
23	chr2:56410288-56410338	AG09319	gingival:	n/a
24	chr2:56410143-56410193	GM06990	blood:	n/a
25	chr2:56410087-56410137	HRPEpiC	eye:	n/a
26	chr2:56411583-56411633	GM12891	blood:	n/a
27	chr2:56412380-56412430	HUVEC	blood vessel:	n/a
28	chr2:56410676-56410726	ovcar-3	ovarian:	n/a
29	chr2:56410114-56410164	HMEC	breast:	n/a
30	chr2:56411534-56411584	AG09319	gingival:	n/a
31	chr2:56410382-56410432	AG10803	skin:	n/a
32	chr2:56412077-56412127	LNCaP	prostate:	n/a
33	chr2:56410114-56410164	HRE	kidney:	n/a
34	chr2:56411072-56411122	GM12878	blood:	n/a
35	chr2:56412380-56412430	HRPEpiC	eye:	n/a
36	chr2:56410197-56410247	NT2-D1	testis:	n/a
37	chr2:56410300-56410350	K562	blood:	n/a
38	chr2:56410300-56410350	PANC-1	pancreas:	n/a
39	chr2:56410071-56410121	SK-N-MC	brain:	n/a
40	chr2:56411447-56411497	NT2-D1	testis:	n/a
41	chr2:56410509-56410559	HIPEpiC	eye:	n/a
42	chr2:56410071-56410121	BE2_C	brain:	n/a
43	chr2:56410197-56410247	Hela-S3	cervix:	n/a
44	chr2:56410509-56410559	ECC-1	luminal epithelium:	n/a
45	chr2:56410197-56410247	GM06990	blood:	n/a
46	chr2:56411534-56411584	HEK293	kidney:	embryo
47	chr2:56411072-56411122	HNPCEpiC	eye:	n/a
48	chr2:56410509-56410559	HRPEpiC	eye:	n/a
49	chr2:56410114-56410164	HRCEpiC	kidney:	n/a
50	chr2:56410011-56410061	HEEpiC	esophagus:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EFEMP1-3	chr2:56410502-56410809	NONHSAT070825
2	lnc-EFEMP1-3	chr2:56411759-56412043	ENSG00000233251.3

No data

Variant related genes	Relation type
CCDC85A	TF binding region
ENSG00000233251	TF binding region
CCDC85A	CpG island
ENSG00000233251	CpG island

Extended variants
information (count: 108 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72801161	chr2:56409902-56409903	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149235386	chr2:56409909-56409910	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs530617157	chr2:56409925-56409926	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs550349148	chr2:56409934-56409935	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs371999530	chr2:56409935-56409936	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs570069599	chr2:56409974-56409975	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs372310619	chr2:56409975-56409976	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs78550467	chr2:56409989-56409990	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs546457595	chr2:56410050-56410051	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs192034103	chr2:56410061-56410062	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs535319890	chr2:56410071-56410072	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs555523970	chr2:56410074-56410075	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs144631327	chr2:56410082-56410083	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs368673164	chr2:56410083-56410084	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs537549679	chr2:56410125-56410126	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs564867665	chr2:56410148-56410149	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs6742077	chr2:56410165-56410166	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs577273758	chr2:56410221-56410222	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs527377036	chr2:56410233-56410234	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs546540111	chr2:56410339-56410340	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs183806610	chr2:56410400-56410401	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs573465136	chr2:56410466-56410467	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs7591637	chr2:56410545-56410546	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs567805794	chr2:56410596-56410597	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs562301491	chr2:56410604-56410605	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs530527095	chr2:56410660-56410661	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs2216327	chr2:56410666-56410667	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs563756584	chr2:56410678-56410679	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs187582291	chr2:56410719-56410720	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs79421063	chr2:56410790-56410791	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs148488829	chr2:56410835-56410836	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs189732915	chr2:56410866-56410867	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs548953548	chr2:56410889-56410890	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs568992732	chr2:56410896-56410897	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs537163992	chr2:56410914-56410915	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs557463005	chr2:56410928-56410929	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs373271350	chr2:56410938-56410939	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs201029374	chr2:56410941-56410942	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs386646359	chr2:56410943-56410944	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs11407328	chr2:56410944-56410945	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs35022090	chr2:56410945-56410946	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs145392381	chr2:56410946-56410947	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs70955010	chr2:56410947-56410948	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs111666219	chr2:56410948-56410949	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs538688340	chr2:56410956-56410957	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs376781261	chr2:56410969-56410970	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs79417936	chr2:56410995-56410996	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs553391344	chr2:56411010-56411011	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs377328671	chr2:56411049-56411050	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs7565631	chr2:56411050-56411051	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:81)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD

Chromatin state (count:329 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56400400-56410200	Weak transcription	HUVEC	blood vessel
2	chr2:56401000-56410600	Weak transcription	Left Ventricle	heart
3	chr2:56405200-56410200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:56409000-56410800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:56409200-56410200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:56409200-56411000	Enhancers	Placenta	Placenta
7	chr2:56409400-56410000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:56409400-56410200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
9	chr2:56409400-56410600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:56409400-56410600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
11	chr2:56409400-56411200	Weak transcription	Fetal Heart	heart
12	chr2:56409800-56410000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
13	chr2:56409800-56410000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
14	chr2:56409800-56410000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:56409800-56410200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
16	chr2:56409800-56410200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
17	chr2:56409800-56410200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
18	chr2:56409800-56410400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:56409800-56410600	Enhancers	Adipose Nuclei	Adipose
20	chr2:56409800-56411000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:56410000-56410200	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
22	chr2:56410000-56410200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:56410000-56410400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
24	chr2:56410000-56410600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
25	chr2:56410000-56410800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:56410000-56410800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:56410000-56410800	Enhancers	Primary hematopoietic stem cells	blood
28	chr2:56410000-56411000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
29	chr2:56410200-56410400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:56410200-56410600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
31	chr2:56410200-56410600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:56410200-56410600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:56410200-56410600	Enhancers	HUVEC	blood vessel
34	chr2:56410200-56410800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
35	chr2:56410200-56411000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
36	chr2:56410400-56412800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:56410600-56410800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:56410600-56410800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
39	chr2:56410600-56410800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
40	chr2:56410600-56410800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr2:56410600-56410800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:56410600-56410800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
43	chr2:56410600-56410800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:56410600-56410800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:56410600-56410800	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr2:56410600-56410800	Bivalent Enhancer	Liver	Liver
47	chr2:56410600-56410800	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr2:56410600-56410800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr2:56410600-56410800	Enhancers	Brain Substantia Nigra	brain
50	chr2:56410600-56410800	Bivalent Enhancer	Duodenum Mucosa	Duodenum

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