Variant report

Variant	nsv525025
Chromosome Location	chr2:55483020-55505456
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:788)
CpG islands
(count:794)
Chromatin interactive
region (count:44)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:788 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:55496079-55496648	HepG2	liver:	n/a	n/a
2	ATF2	chr2:55496074-55496639	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr2:55496025-55496883	GM12878	blood:	n/a	n/a
4	ATF2	chr2:55496054-55496589	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr2:55496023-55496744	GM12878	blood:	n/a	n/a
6	ATF3	chr2:55495727-55496643	A549	lung:	n/a	n/a
7	ATF3	chr2:55495945-55496752	A549	lung:	n/a	n/a
8	BACH1	chr2:55495852-55496650	H1-hESC	embryonic stem cell:	n/a	n/a
9	BATF	chr2:55496203-55496583	GM12878	blood:	n/a	n/a
10	BCL11A	chr2:55496170-55496563	GM12878	blood:	n/a	n/a
11	BCL3	chr2:55495902-55496848	A549	lung:	n/a	chr2:55496096-55496109
12	BCL3	chr2:55496202-55496581	GM12878	blood:	n/a	n/a
13	BCL3	chr2:55495510-55496662	A549	lung:	n/a	chr2:55496096-55496109
14	BCLAF1	chr2:55495891-55496691	GM12878	blood:	n/a	chr2:55496096-55496109
15	BCLAF1	chr2:55496004-55496844	K562	blood:	n/a	chr2:55496096-55496109
16	BCLAF1	chr2:55495967-55496768	K562	blood:	n/a	chr2:55496096-55496109
17	BCLAF1	chr2:55495968-55496709	GM12878	blood:	n/a	chr2:55496096-55496109
18	BHLHE40	chr2:55504624-55504632	HepG2	liver:	n/a	n/a
19	BHLHE40	chr2:55495943-55496589	K562	blood:	n/a	n/a
20	BHLHE40	chr2:55495872-55496583	HepG2	liver:	n/a	n/a
21	BHLHE40	chr2:55495813-55496657	GM12878	blood:	n/a	n/a
22	BHLHE40	chr2:55497679-55497736	K562	blood:	n/a	n/a
23	BRCA1	chr2:55496247-55496707	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr2:55495943-55496523	H1-hESC	embryonic stem cell:	n/a	n/a
25	BRCA1	chr2:55496192-55496461	GM12878	blood:	n/a	n/a
26	BRCA1	chr2:55496097-55496551	HepG2	liver:	n/a	n/a
27	CBX3	chr2:55495905-55496706	K562	blood:	n/a	n/a
28	CBX3	chr2:55496034-55496683	K562	blood:	n/a	n/a
29	CBX3	chr2:55495967-55496718	HCT-116	colon:	n/a	n/a
30	CCNT2	chr2:55495973-55496645	K562	blood:	n/a	n/a
31	CEBPB	chr2:55503532-55503805	MCF-7	breast:	n/a	chr2:55503600-55503611
32	CEBPB	chr2:55503495-55503645	A549	lung:	n/a	chr2:55503600-55503611
33	CEBPB	chr2:55495634-55496725	GM12878	blood:	n/a	n/a
34	CEBPB	chr2:55496231-55496650	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr2:55503433-55503703	HepG2	liver:	n/a	chr2:55503600-55503611
36	CEBPB	chr2:55503557-55503777	K562	blood:	n/a	chr2:55503600-55503611
37	CEBPB	chr2:55503590-55503781	H1-hESC	embryonic stem cell:	n/a	chr2:55503600-55503611
38	CEBPB	chr2:55496058-55496621	A549	lung:	n/a	n/a
39	CEBPB	chr2:55503581-55503618	IMR90	lung:	n/a	chr2:55503600-55503611
40	CEBPB	chr2:55483859-55483973	HepG2	liver:	n/a	n/a
41	CEBPD	chr2:55496043-55496601	HepG2	liver:	n/a	n/a
42	CEBPD	chr2:55495993-55496576	HepG2	liver:	n/a	n/a
43	CEBPD	chr2:55496029-55496674	K562	blood:	n/a	n/a
44	CHD1	chr2:55495812-55496751	GM12878	blood:	n/a	chr2:55496076-55496086
45	CHD1	chr2:55496216-55496799	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD2	chr2:55496230-55496664	Hela-S3	cervix:	n/a	n/a
47	CHD2	chr2:55496231-55496580	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD2	chr2:55496113-55496574	HepG2	liver:	n/a	n/a
49	CHD2	chr2:55496105-55496649	GM12878	blood:	n/a	n/a
50	CREB1	chr2:55496078-55496717	H1-hESC	embryonic stem cell:	n/a	n/a

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:55496371-55496421	HAEpiC	amniotic membrane:	n/a
2	chr2:55496371-55496421	HAEpiC	amniotic membrane:	n/a
3	chr2:55497012-55497062	HUVEC	blood vessel:	n/a
4	chr2:55497012-55497062	NHBE	bronchial:	n/a
5	chr2:55496371-55496421	SAEC	small airway:	n/a
6	chr2:55496390-55496440	PANC-1	pancreas:	n/a
7	chr2:55497012-55497062	HRCEpiC	kidney:	n/a
8	chr2:55497012-55497062	NHDF-neo	bronchial:	n/a
9	chr2:55500061-55500111	NT2-D1	testis:	n/a
10	chr2:55496371-55496421	T-47D	breast:	n/a
11	chr2:55493212-55493262	HPAEpiC	pulmonary alveolar:	n/a
12	chr2:55496371-55496421	MCF-7	breast:	n/a
13	chr2:55496495-55496545	PrEC	prostate:	n/a
14	chr2:55496144-55496194	HPAEpiC	pulmonary alveolar:	n/a
15	chr2:55496390-55496440	HMEC	breast:	n/a
16	chr2:55496552-55496602	ECC-1	luminal epithelium:	n/a
17	chr2:55496495-55496545	BJ	skin:	n/a
18	chr2:55496495-55496545	PANC-1	pancreas:	n/a
19	chr2:55496384-55496434	HCF	heart:	n/a
20	chr2:55496552-55496602	H1-hESC	embryonic stem cell:	embryo
21	chr2:55496371-55496421	ProgFib	skin:	n/a
22	chr2:55496552-55496602	Jurkat	blood:	n/a
23	chr2:55496462-55496512	AG09309	skin:	n/a
24	chr2:55496144-55496194	PFSK-1	brain:	n/a
25	chr2:55496144-55496194	Hela-S3	cervix:	n/a
26	chr2:55496462-55496512	HEK293	kidney:	embryo
27	chr2:55496232-55496282	NH-A	brain:	n/a
28	chr2:55496390-55496440	HAEpiC	amniotic membrane:	n/a
29	chr2:55496495-55496545	IMR90	lung:	fetal
30	chr2:55496004-55496054	SK-N-MC	brain:	n/a
31	chr2:55496390-55496440	Hela-S3	cervix:	n/a
32	chr2:55496495-55496545	GM12892	blood:	n/a
33	chr2:55500061-55500111	HAEpiC	amniotic membrane:	n/a
34	chr2:55496004-55496054	HRE	kidney:	n/a
35	chr2:55496144-55496194	HL-60	blood:	n/a
36	chr2:55497012-55497062	CMK	blood:	n/a
37	chr2:55496462-55496512	HPAEpiC	pulmonary alveolar:	n/a
38	chr2:55496390-55496440	AG09309	skin:	n/a
39	chr2:55496490-55496540	AG09319	gingival:	n/a
40	chr2:55496390-55496440	HEEpiC	esophagus:	n/a
41	chr2:55496144-55496194	ECC-1	luminal epithelium:	n/a
42	chr2:55496004-55496054	A549	lung:	n/a
43	chr2:55500061-55500111	BJ	skin:	n/a
44	chr2:55497012-55497062	GM12892	blood:	n/a
45	chr2:55496004-55496054	GM19239	blood:	n/a
46	chr2:55497012-55497062	AG10803	skin:	n/a
47	chr2:55496462-55496512	GM06990	blood:	n/a
48	chr2:55496490-55496540	HCT-116	colon:	n/a
49	chr2:55496144-55496194	HNPCEpiC	eye:	n/a
50	chr2:55500061-55500111	HEEpiC	esophagus:	n/a

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55458825..55461494-chr2:55489314..55491027,2	MCF-7	breast:
2	chr2:55496544..55498355-chr2:55643954..55646229,2	K562	blood:
3	chr2:55493189..55494879-chr2:55494974..55496543,2	MCF-7	breast:
4	chr2:55496021..55498315-chr2:55843389..55845953,2	K562	blood:
5	chr2:55476447..55478832-chr2:55481889..55483888,2	K562	blood:
6	chr2:55494631..55497013-chr2:55842868..55845390,2	MCF-7	breast:
7	chr2:55496021..55497900-chr2:55843389..55845266,2	K562	blood:
8	chr2:55458256..55462359-chr2:55494864..55497801,3	K562	blood:
9	chr2:55468640..55470171-chr2:55482025..55483624,2	MCF-7	breast:
10	chr2:55481770..55484795-chr2:55484832..55488632,4	K562	blood:
11	chr2:55490801..55492846-chr2:55494879..55496493,2	K562	blood:
12	chr2:55458156..55461118-chr2:55494163..55499368,6	MCF-7	breast:
13	chr2:55499045..55500751-chr2:55505359..55507052,2	MCF-7	breast:
14	chr2:55480502..55483270-chr2:55485037..55488051,3	K562	blood:
15	chr2:55497553..55499335-chr2:55513107..55515419,2	K562	blood:
16	chr2:55501428..55503229-chr2:55507740..55510366,2	MCF-7	breast:
17	chr2:55274992..55276773-chr2:55494676..55496447,2	K562	blood:
18	chr2:55485423..55489469-chr2:55495685..55498488,3	MCF-7	breast:
19	chr2:55494928..55498059-chr2:55506695..55512310,8	K562	blood:
20	chr2:55462896..55465238-chr2:55491054..55493846,2	MCF-7	breast:
21	chr2:55493189..55494879-chr2:55494974..55496543,2	MCF-7	breast:
22	chr2:55480502..55483270-chr2:55485037..55488051,3	K562	blood:
23	chr2:55437973..55440553-chr2:55504006..55505515,2	K562	blood:
24	chr2:55483346..55485243-chr2:55507754..55509735,2	MCF-7	breast:
25	chr2:55495879..55496701-chr7:143598878..143599680,2	HCT-116	colon:
26	chr2:55491409..55498987-chr2:55507178..55511380,11	MCF-7	breast:
27	chr2:55495690..55497899-chr2:55501241..55503217,2	MCF-7	breast:
28	chr2:55458256..55461079-chr2:55494634..55496499,3	K562	blood:
29	chr2:55475194..55477770-chr2:55494963..55497132,2	MCF-7	breast:
30	chr2:55481797..55485521-chr2:55489463..55492846,3	K562	blood:
31	chr2:55458420..55460562-chr2:55481965..55484831,2	K562	blood:
32	chr2:55496311..55498089-chr2:55508225..55509799,2	MCF-7	breast:
33	chr2:55481797..55485521-chr2:55489463..55492846,3	K562	blood:
34	chr2:55494963..55498122-chr2:55498179..55500707,3	K562	blood:
35	chr2:55480148..55483393-chr2:55492366..55494655,3	K562	blood:
36	chr2:55501447..55504547-chr2:55508034..55511018,3	MCF-7	breast:
37	chr2:55481770..55484795-chr2:55484832..55488632,4	K562	blood:
38	chr2:55499045..55500751-chr2:55505359..55507052,2	MCF-7	breast:
39	chr2:55480148..55483393-chr2:55492366..55494655,3	K562	blood:
40	chr2:55274992..55277411-chr2:55494676..55497816,3	K562	blood:
41	chr2:55466265..55468556-chr2:55485634..55487612,2	MCF-7	breast:
42	chr2:55457538..55465596-chr2:55493335..55497971,13	MCF-7	breast:
43	chr2:55489175..55493124-chr2:55494672..55498680,8	MCF-7	breast:
44	chr12:120728776..120730953-chr2:55493561..55496361,2	MCF-7	breast:

No data

Variant related genes	Relation type
PRORSD1P	TF binding region
MTIF2	TF binding region
PRORSD1P	CpG island
MTIF2	CpG island
ENSG00000272606	chromatin interactions
ENSG00000198420	chromatin interactions
ENSG00000143947	chromatin interactions
ENSG00000162994	chromatin interactions
ENSG00000206964	chromatin interactions
ENSG00000115310	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000085760	chromatin interactions
ENSG00000162997	chromatin interactions
ENSG00000138041	chromatin interactions

Extended variants
information (count: 1026 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1026 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2589094	chr2:55483020-55483021	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs572239914	chr2:55483027-55483028	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs535096007	chr2:55483028-55483029	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs554885998	chr2:55483029-55483030	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs574940061	chr2:55483042-55483043	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs186161084	chr2:55483043-55483044	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs2920969	chr2:55483052-55483053	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs2920968	chr2:55483062-55483063	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs368691198	chr2:55483073-55483074	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs565497355	chr2:55483132-55483133	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs527924751	chr2:55483138-55483139	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs545849929	chr2:55483141-55483142	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs112165848	chr2:55483161-55483162	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs372181816	chr2:55483194-55483195	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs541876303	chr2:55483234-55483235	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs561744375	chr2:55483392-55483393	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs530682102	chr2:55483437-55483438	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs71410491	chr2:55483438-55483439	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs566837508	chr2:55483439-55483440	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs59068934	chr2:55483461-55483462	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs376707638	chr2:55483463-55483464	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs369128127	chr2:55483464-55483465	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs533041126	chr2:55483491-55483492	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs190775118	chr2:55483511-55483512	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs565708898	chr2:55483519-55483520	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs534823035	chr2:55483549-55483550	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs542798789	chr2:55483556-55483557	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs183730118	chr2:55483563-55483564	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs375233770	chr2:55483571-55483572	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs562709196	chr2:55483606-55483607	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs186574482	chr2:55483610-55483611	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs537691709	chr2:55483623-55483624	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs369079028	chr2:55483662-55483663	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs557573228	chr2:55483698-55483699	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs35432329	chr2:55483706-55483707	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs577642249	chr2:55483711-55483712	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs372089955	chr2:55483750-55483751	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs191431320	chr2:55483761-55483762	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs114256124	chr2:55483773-55483774	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs373470119	chr2:55483785-55483786	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs572759817	chr2:55483809-55483810	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs113278511	chr2:55483823-55483824	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs561866033	chr2:55483824-55483825	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs34921662	chr2:55483836-55483837	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs397868333	chr2:55483850-55483851	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs138804478	chr2:55483851-55483852	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs78912460	chr2:55483858-55483859	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs2972068	chr2:55483889-55483890	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs565479381	chr2:55483893-55483894	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs2920967	chr2:55483902-55483903	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:78)

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
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:874 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55461600-55495400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:55461600-55495400	Weak transcription	Stomach Mucosa	stomach
3	chr2:55461800-55493400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:55461800-55495000	Weak transcription	Fetal Brain Male	brain
5	chr2:55462000-55493200	Strong transcription	Duodenum Mucosa	Duodenum
6	chr2:55462200-55490200	Weak transcription	Small Intestine	intestine
7	chr2:55462600-55485800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:55463000-55495400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:55463400-55488200	Weak transcription	Pancreas	Pancrea
10	chr2:55463600-55483800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:55463800-55486200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:55463800-55490400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:55463800-55494800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:55463800-55495600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:55464600-55495800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:55465400-55490600	Weak transcription	Brain Germinal Matrix	brain
17	chr2:55465600-55486000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:55465600-55494400	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:55466000-55493200	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr2:55468200-55493400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr2:55468400-55493200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:55468400-55494400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:55468600-55494400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:55468800-55493600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:55468800-55494400	Strong transcription	Adipose Nuclei	Adipose
26	chr2:55468800-55494400	Strong transcription	Liver	Liver
27	chr2:55469400-55492600	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr2:55470800-55494200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr2:55472000-55485000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:55472000-55495200	Weak transcription	Psoas Muscle	Psoas
31	chr2:55473600-55484600	Weak transcription	Hela-S3	cervix
32	chr2:55473600-55490200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:55475000-55485200	Weak transcription	HSMMtube	muscle
34	chr2:55475200-55484800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:55475400-55490000	Weak transcription	Gastric	stomach
36	chr2:55476000-55495400	Weak transcription	HUVEC	blood vessel
37	chr2:55476600-55490000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:55476600-55495400	Weak transcription	Aorta	Aorta
39	chr2:55476600-55495400	Weak transcription	Fetal Heart	heart
40	chr2:55476600-55495600	Weak transcription	Esophagus	oesophagus
41	chr2:55476800-55484800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:55476800-55490200	Weak transcription	Spleen	Spleen
43	chr2:55476800-55495400	Weak transcription	Fetal Kidney	kidney
44	chr2:55477000-55490200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr2:55477200-55483800	Weak transcription	Lung	lung
46	chr2:55478400-55485000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr2:55478400-55493400	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr2:55478400-55494800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:55478600-55483400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:55478800-55483600	Strong transcription	Dnd41	blood

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