Variant report

Variant	esv3330480
Chromosome Location	chr2:56410673-56413221
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:509)
CpG islands
(count:1040)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:509 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

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	chr2:56410676-56411058	K562	blood:	n/a	chr2:56410938-56410954
4	BHLHE40	chr2:56410720-56411023	GM12878	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	chr2:56410725-56411442	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr2:56410742-56411046	Hela-S3	cervix:	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	chr2:56412406-56412647	MCF-7	breast:	n/a	n/a
16	CTCF	chr2:56412427-56412620	MCF-7	breast:	n/a	n/a
17	CTCF	chr2:56410718-56411007	Spleen_OC	spleen:	n/a	n/a
18	CTCF	chr2:56412740-56412890	HRE	kidney:	n/a	n/a
19	CTCF	chr2:56410780-56410930	GM12868	blood:	n/a	n/a
20	CTCF	chr2:56410760-56410910	HVMF	connective:	n/a	n/a
21	CTCF	chr2:56410760-56410910	HPF	lung:	n/a	n/a
22	CTCF	chr2:56410735-56411006	Lung_OC	lung:	n/a	n/a
23	CTCF	chr2:56412840-56412990	SK-N-SH_RA	brain:	n/a	chr2:56412974-56412984
24	CTCF	chr2:56412840-56412990	HCT-116	colon:	n/a	chr2:56412974-56412984
25	CTCF	chr2:56410760-56410910	MCF-7	breast:	n/a	n/a
26	CTCF	chr2:56411930-56412072	MCF-7	breast:	n/a	n/a
27	CTCF	chr2:56412500-56412650	SK-N-SH_RA	brain:	n/a	n/a
28	CTCF	chr2:56410724-56411000	GM13977	blood:	n/a	n/a
29	CTCF	chr2:56410713-56411015	Medullo	brain:	n/a	n/a
30	CTCF	chr2:56410760-56410910	HepG2	liver:	n/a	n/a
31	CTCF	chr2:56412860-56413010	HRE	kidney:	n/a	chr2:56412974-56412984
32	CTCF	chr2:56412840-56412990	HCPEpiC	choroid plexus:	n/a	chr2:56412974-56412984
33	CTCF	chr2:56410733-56410978	GM20000	blood:	n/a	n/a
34	CTCF	chr2:56410709-56411033	MCF-7	breast:	n/a	n/a
35	CTCF	chr2:56410680-56410830	HCM	heart:	n/a	n/a
36	CTCF	chr2:56410652-56411068	K562	blood:	n/a	n/a
37	CTCF	chr2:56410680-56410830	GM12870	blood:	n/a	n/a
38	CTCF	chr2:56410760-56410910	HA-sp	spinal cord:	n/a	n/a
39	CTCF	chr2:56410760-56410910	BE2_C	brain:	n/a	n/a
40	CTCF	chr2:56412640-56412790	A549	lung:	n/a	n/a
41	CTCF	chr2:56410780-56410930	HMEC	breast:	n/a	n/a
42	CTCF	chr2:56410591-56411226	HCT-116	colon:	n/a	n/a
43	CTCF	chr2:56412480-56412630	RPTEC	kidney:	n/a	n/a
44	CTCF	chr2:56410692-56411044	Fibrobl	skin:	n/a	n/a
45	CTCF	chr2:56412640-56412790	BJ	skin:	n/a	n/a
46	CTCF	chr2:56410780-56410930	AG09309	skin:	n/a	n/a
47	CTCF	chr2:56412887-56412992	NHEK	skin:	n/a	chr2:56412974-56412984
48	CTCF	chr2:56412800-56412950	HA-sp	spinal cord:	n/a	n/a
49	CTCF	chr2:56412460-56412610	AG04449	skin:	n/a	n/a
50	CTCF	chr2:56410706-56411026	GM12892	blood:	n/a	n/a

(count:1040 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:56413034-56413084	SAEC	small airway:	n/a
2	chr2:56412361-56412411	GM12891	blood:	n/a
3	chr2:56412380-56412430	PrEC	prostate:	n/a
4	chr2:56413034-56413084	SAEC	small airway:	n/a
5	chr2:56412361-56412411	GM12891	blood:	n/a
6	chr2:56412380-56412430	PrEC	prostate:	n/a
7	chr2:56412077-56412127	HCPEpiC	choroid plexus:	n/a
8	chr2:56411072-56411122	MCF-7	breast:	n/a
9	chr2:56410780-56410830	ovcar-3	ovarian:	n/a
10	chr2:56411072-56411122	SKMC	muscle:	n/a
11	chr2:56411534-56411584	AoSMC	blood vessel:	n/a
12	chr2:56411072-56411122	GM06990	blood:	n/a
13	chr2:56412597-56412647	AG04449	skin:	fetal
14	chr2:56412597-56412647	AG10803	skin:	n/a
15	chr2:56412924-56412974	HPAEpiC	pulmonary alveolar:	n/a
16	chr2:56412077-56412127	MCF-7	breast:	n/a
17	chr2:56413069-56413119	HepG2	liver:	n/a
18	chr2:56411072-56411122	LNCaP	prostate:	n/a
19	chr2:56413034-56413084	BE2_C	brain:	n/a
20	chr2:56410676-56410726	HEK293	kidney:	embryo
21	chr2:56412380-56412430	U87	brain:	n/a
22	chr2:56410676-56410726	Jurkat	blood:	n/a
23	chr2:56412077-56412127	GM12892	blood:	n/a
24	chr2:56410676-56410726	IMR90	lung:	fetal
25	chr2:56413137-56413187	Hela-S3	cervix:	n/a
26	chr2:56412597-56412647	Jurkat	blood:	n/a
27	chr2:56411534-56411584	AG09309	skin:	n/a
28	chr2:56413034-56413084	GM12892	blood:	n/a
29	chr2:56411072-56411122	GM12878	blood:	n/a
30	chr2:56413034-56413084	HMEC	breast:	n/a
31	chr2:56412077-56412127	GM19239	blood:	n/a
32	chr2:56411447-56411497	PANC-1	pancreas:	n/a
33	chr2:56410676-56410726	Hela-S3	cervix:	n/a
34	chr2:56412597-56412647	HCT-116	colon:	n/a
35	chr2:56412924-56412974	HUVEC	blood vessel:	n/a
36	chr2:56412361-56412411	HAEpiC	amniotic membrane:	n/a
37	chr2:56411208-56411258	AG04450	lung:	fetal
38	chr2:56412077-56412127	HEK293	kidney:	embryo
39	chr2:56412380-56412430	BE2_C	brain:	n/a
40	chr2:56411208-56411258	PrEC	prostate:	n/a
41	chr2:56411583-56411633	ProgFib	skin:	n/a
42	chr2:56413137-56413187	ProgFib	skin:	n/a
43	chr2:56412924-56412974	Caco-2	colon:	n/a
44	chr2:56411208-56411258	HIPEpiC	eye:	n/a
45	chr2:56410780-56410830	HAEpiC	amniotic membrane:	n/a
46	chr2:56411447-56411497	HMEC	breast:	n/a
47	chr2:56410780-56410830	HepG2	liver:	n/a
48	chr2:56412077-56412127	T-47D	breast:	n/a
49	chr2:56410780-56410830	HUVEC	blood vessel:	n/a
50	chr2:56412924-56412974	T-47D	breast:	n/a

No data

(count:4 , 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
3	lnc-EFEMP1-3	chr2:56412833-56412905	NONHSAT070821
4	lnc-EFEMP1-3	chr2:56412833-56412905	ENSG00000233251

No data

Variant related genes	Relation type
CCDC85A	TF binding region
ENSG00000233251	TF binding region
CCDC85A	CpG island
ENSG00000233251	CpG island
GNG5	miRNA target sites

Extended variants
information (count: 114 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	rs3171924	chr2:56411051-56411052	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
25	rs536097242	chr2:56411055-56411056	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
26	rs555694443	chr2:56411146-56411147	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
27	rs960490	chr2:56411157-56411158	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
28	rs142674240	chr2:56411166-56411167	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
29	rs563868697	chr2:56411174-56411175	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
30	rs577303738	chr2:56411180-56411181	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
31	rs113509779	chr2:56411219-56411220	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs539882709	chr2:56411231-56411232	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs565033682	chr2:56411239-56411240	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs560091771	chr2:56411261-56411262	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77586647	chr2:56411286-56411287	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549225112	chr2:56411293-56411294	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562563456	chr2:56411306-56411307	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531561120	chr2:56411327-56411328	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551583315	chr2:56411340-56411341	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs960489	chr2:56411363-56411364	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs539935384	chr2:56411391-56411392	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs75829550	chr2:56411398-56411399	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547018220	chr2:56411403-56411404	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182343995	chr2:56411417-56411418	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186996172	chr2:56411468-56411469	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370051404	chr2:56411476-56411477	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556001116	chr2:56411630-56411631	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs191774523	chr2:56411642-56411643	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs538084458	chr2:56411657-56411658	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs147203079	chr2:56411728-56411729	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	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:401 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56409000-56410800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:56409200-56411000	Enhancers	Placenta	Placenta
3	chr2:56409400-56411200	Weak transcription	Fetal Heart	heart
4	chr2:56409800-56411000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:56410000-56410800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:56410000-56410800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:56410000-56410800	Enhancers	Primary hematopoietic stem cells	blood
8	chr2:56410000-56411000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
9	chr2:56410200-56410800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
10	chr2:56410200-56411000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
11	chr2:56410400-56412800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:56410600-56410800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:56410600-56410800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr2:56410600-56410800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
15	chr2:56410600-56410800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr2:56410600-56410800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:56410600-56410800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
18	chr2:56410600-56410800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:56410600-56410800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:56410600-56410800	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr2:56410600-56410800	Bivalent Enhancer	Liver	Liver
22	chr2:56410600-56410800	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr2:56410600-56410800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
24	chr2:56410600-56410800	Enhancers	Brain Substantia Nigra	brain
25	chr2:56410600-56410800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
26	chr2:56410600-56410800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr2:56410600-56410800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
28	chr2:56410600-56410800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr2:56410600-56410800	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr2:56410600-56410800	Enhancers	Left Ventricle	heart
31	chr2:56410600-56410800	Enhancers	Ovary	ovary
32	chr2:56410600-56410800	Enhancers	Pancreas	Pancrea
33	chr2:56410600-56410800	Enhancers	Rectal Smooth Muscle	rectum
34	chr2:56410600-56410800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr2:56410600-56410800	Bivalent Enhancer	A549	lung
36	chr2:56410600-56410800	Flanking Active TSS	Hela-S3	cervix
37	chr2:56410600-56410800	Flanking Active TSS	HUVEC	blood vessel
38	chr2:56410600-56411000	Bivalent Enhancer	Fetal Thymus	thymus
39	chr2:56410600-56411200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
40	chr2:56410600-56411200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:56410600-56411200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:56410600-56411200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:56410600-56411200	Active TSS	Right Ventricle	heart
44	chr2:56410600-56411400	Bivalent Enhancer	Stomach Mucosa	stomach
45	chr2:56410600-56411600	Active TSS	Lung	lung
46	chr2:56410600-56411600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
47	chr2:56410600-56411800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
48	chr2:56410600-56411800	Enhancers	Fetal Brain Male	brain
49	chr2:56410600-56411800	Active TSS	Fetal Brain Female	brain
50	chr2:56410600-56411800	Bivalent/Poised TSS	Fetal Stomach	stomach

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