Variant report

Variant	nsv1006984
Chromosome Location	chr2:54343466-54384094
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:245)
CpG islands
(count:122)
Chromatin interactive
region (count:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:54350062-54350502	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:54370914-54371223	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:54348943-54349803	HepG2	liver:	n/a	n/a
4	ATF1	chr2:54350171-54350540	K562	blood:	n/a	n/a
5	BACH1	chr2:54344004-54344187	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr2:54350178-54350387	HepG2	liver:	n/a	n/a
7	BHLHE40	chr2:54351871-54352015	K562	blood:	n/a	n/a
8	CBX3	chr2:54343541-54344165	HCT-116	colon:	n/a	n/a
9	CBX3	chr2:54342478-54344313	K562	blood:	n/a	n/a
10	CBX3	chr2:54380286-54380610	K562	blood:	n/a	n/a
11	CBX3	chr2:54348068-54348581	K562	blood:	n/a	n/a
12	CBX3	chr2:54343593-54344066	K562	blood:	n/a	n/a
13	CCNT2	chr2:54360834-54361022	K562	blood:	n/a	n/a
14	CEBPB	chr2:54376778-54377122	IMR90	lung:	n/a	n/a
15	CEBPB	chr2:54376820-54377110	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr2:54370934-54371212	HepG2	liver:	n/a	n/a
17	CEBPB	chr2:54366681-54366881	HepG2	liver:	n/a	chr2:54366707-54366718
18	CEBPB	chr2:54370917-54371309	HepG2	liver:	n/a	n/a
19	CEBPB	chr2:54353992-54354196	K562	blood:	n/a	n/a
20	CEBPB	chr2:54376796-54377077	HepG2	liver:	n/a	n/a
21	CEBPB	chr2:54376798-54377061	A549	lung:	n/a	n/a
22	CEBPB	chr2:54343776-54344021	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr2:54375773-54375864	A549	lung:	n/a	chr2:54375818-54375829
24	CEBPB	chr2:54361286-54361486	K562	blood:	n/a	n/a
25	CTCF	chr2:54369070-54369127	MCF-7	breast:	n/a	n/a
26	CTCF	chr2:54365900-54366050	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr2:54347920-54348070	HepG2	liver:	n/a	n/a
28	CTCF	chr2:54350220-54350370	Hela-S3	cervix:	n/a	n/a
29	E2F6	chr2:54342329-54343576	A549	lung:	n/a	chr2:54343108-54343120 chr2:54343029-54343038 chr2:54343006-54343015 chr2:54343027-54343037 chr2:54342656-54342666 chr2:54342621-54342632 chr2:54343106-54343115 chr2:54343052-54343061
30	EGR1	chr2:54350034-54350595	HCT-116	colon:	n/a	n/a
31	EGR1	chr2:54350174-54350424	K562	blood:	n/a	n/a
32	EGR1	chr2:54350217-54350444	K562	blood:	n/a	n/a
33	EGR1	chr2:54349864-54350704	HCT-116	colon:	n/a	n/a
34	EP300	chr2:54349998-54350497	HepG2	liver:	n/a	n/a
35	EP300	chr2:54348918-54349794	HepG2	liver:	n/a	n/a
36	EP300	chr2:54370849-54371359	HepG2	liver:	n/a	n/a
37	EP300	chr2:54349220-54349674	HepG2	liver:	n/a	n/a
38	EP300	chr2:54370817-54371406	HepG2	liver:	n/a	n/a
39	EP300	chr2:54349347-54349547	HepG2	liver:	n/a	n/a
40	EP300	chr2:54356174-54356182	K562	blood:	n/a	n/a
41	EP300	chr2:54342421-54343482	ECC-1	luminal epithelium:	n/a	chr2:54343024-54343040 chr2:54343155-54343171 chr2:54343016-54343023
42	EP300	chr2:54342334-54343545	GM12878	blood:	n/a	chr2:54343024-54343040 chr2:54343155-54343171 chr2:54343016-54343023
43	FOS	chr2:54350087-54350461	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr2:54351968-54351999	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr2:54350087-54350452	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr2:54350121-54350451	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr2:54343958-54344205	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr2:54344016-54344156	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr2:54350074-54350474	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr2:54343960-54344166	MCF10A-Er-Src	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:54350432-54350482	BJ	skin:	n/a
2	chr2:54350432-54350482	Caco-2	colon:	n/a
3	chr2:54350432-54350482	PANC-1	pancreas:	n/a
4	chr2:54345792-54345842	SK-N-SH_RA	brain:	n/a
5	chr2:54350432-54350482	AG10803	skin:	n/a
6	chr2:54350432-54350482	HepG2	liver:	n/a
7	chr2:54345792-54345842	PFSK-1	brain:	n/a
8	chr2:54350432-54350482	NHBE	bronchial:	n/a
9	chr2:54350432-54350482	NHDF-neo	bronchial:	n/a
10	chr2:54350432-54350482	PrEC	prostate:	n/a
11	chr2:54345792-54345842	H1-hESC	embryonic stem cell:	embryo
12	chr2:54345792-54345842	AG04450	lung:	fetal
13	chr2:54345792-54345842	HCF	heart:	n/a
14	chr2:54350432-54350482	SK-N-SH	brain:	n/a
15	chr2:54350432-54350482	GM12892	blood:	n/a
16	chr2:54345792-54345842	SAEC	small airway:	n/a
17	chr2:54345792-54345842	SK-N-SH	brain:	n/a
18	chr2:54345792-54345842	HL-60	blood:	n/a
19	chr2:54345792-54345842	NHDF-neo	bronchial:	n/a
20	chr2:54345792-54345842	T-47D	breast:	n/a
21	chr2:54350432-54350482	RPTEC	kidney:	n/a
22	chr2:54345792-54345842	ProgFib	skin:	n/a
23	chr2:54350432-54350482	NT2-D1	testis:	n/a
24	chr2:54350432-54350482	ovcar-3	ovarian:	n/a
25	chr2:54345792-54345842	HRCEpiC	kidney:	n/a
26	chr2:54350432-54350482	HCM	heart:	n/a
27	chr2:54350432-54350482	HCT-116	colon:	n/a
28	chr2:54345792-54345842	Jurkat	blood:	n/a
29	chr2:54345792-54345842	SKMC	muscle:	n/a
30	chr2:54350432-54350482	AG09309	skin:	n/a
31	chr2:54350432-54350482	AG04450	lung:	fetal
32	chr2:54345792-54345842	MCF10A-Er-Src	breast:	n/a
33	chr2:54350432-54350482	AoSMC	blood vessel:	n/a
34	chr2:54345792-54345842	HMEC	breast:	n/a
35	chr2:54350432-54350482	PFSK-1	brain:	n/a
36	chr2:54350432-54350482	HPAEpiC	pulmonary alveolar:	n/a
37	chr2:54350432-54350482	HCF	heart:	n/a
38	chr2:54350432-54350482	HUVEC	blood vessel:	n/a
39	chr2:54350432-54350482	NH-A	brain:	n/a
40	chr2:54345792-54345842	NT2-D1	testis:	n/a
41	chr2:54345792-54345842	HIPEpiC	eye:	n/a
42	chr2:54350432-54350482	LNCaP	prostate:	n/a
43	chr2:54350432-54350482	SK-N-SH_RA	brain:	n/a
44	chr2:54350432-54350482	GM19239	blood:	n/a
45	chr2:54350432-54350482	NB4	blood:	n/a
46	chr2:54350432-54350482	SKMC	muscle:	n/a
47	chr2:54345792-54345842	BJ	skin:	n/a
48	chr2:54345792-54345842	PANC-1	pancreas:	n/a
49	chr2:54345792-54345842	A549	lung:	n/a
50	chr2:54350432-54350482	T-47D	breast:	n/a

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:54341307..54344135-chr2:54557168..54559182,2	K562	blood:
2	chr2:54335252..54336789-chr2:54355206..54357354,2	MCF-7	breast:
3	chr2:54341176..54343229-chr2:54346629..54349067,2	K562	blood:
4	chr2:54343136..54344762-chr2:54350422..54352755,2	K562	blood:
5	chr2:54341176..54344555-chr2:54346430..54350020,7	K562	blood:
6	chr2:54341806..54344770-chr2:54784235..54787039,2	MCF-7	breast:
7	chr2:54341341..54343085-chr2:54376949..54378991,2	MCF-7	breast:
8	chr2:54294456..54296366-chr2:54347167..54348766,2	K562	blood:
9	chr2:54341659..54344698-chr2:54352246..54354996,3	MCF-7	breast:
10	chr2:54342420..54344092-chr20:46285600..46287785,2	MCF-7	breast:
11	chr2:54343141..54345901-chr2:54421855..54423562,2	K562	blood:
12	chr2:54340543..54343083-chr2:54350579..54352338,2	K562	blood:
13	chr2:54198564..54201435-chr2:54359737..54361960,2	K562	blood:
14	chr2:54341515..54343973-chr2:55337394..55340042,2	MCF-7	breast:
15	chr2:54341216..54345253-chr2:54347980..54351307,5	MCF-7	breast:
16	chr2:54343136..54344762-chr2:54350422..54352755,2	K562	blood:
17	chr2:54352052..54355360-chr2:54358848..54360965,3	K562	blood:
18	chr2:54341520..54343821-chr2:54682367..54684141,3	MCF-7	breast:
19	chr2:54348914..54351934-chr2:54354542..54358580,3	K562	blood:
20	chr2:54353860..54357435-chr2:54358249..54361624,3	K562	blood:
21	chr2:54195752..54197966-chr2:54347709..54349839,3	K562	blood:
22	chr2:54356754..54359012-chr2:54361196..54364127,2	K562	blood:
23	chr2:54342420..54344345-chr2:54367915..54370149,2	MCF-7	breast:
24	chr2:54341795..54343300-chr2:54353986..54355682,2	K562	blood:
25	chr2:54340617..54344494-chr2:54480899..54484108,3	K562	blood:
26	chr2:54353860..54357435-chr2:54358249..54361624,3	K562	blood:
27	chr2:54342236..54343923-chr2:54879380..54882162,2	MCF-7	breast:
28	chr2:54356754..54359012-chr2:54361196..54364127,2	K562	blood:
29	chr2:54196743..54198781-chr2:54341566..54344110,2	K562	blood:
30	chr2:54341216..54345253-chr2:54347980..54351307,5	MCF-7	breast:
31	chr2:54352052..54355360-chr2:54358848..54360965,3	K562	blood:

No data

Variant related genes	Relation type
ACYP2	TF binding region
ACYP2	CpG island
ENSG00000170634	chromatin interactions
ENSG00000178021	chromatin interactions
ENSG00000115306	chromatin interactions
ENSG00000115310	chromatin interactions
ENSG00000196562	chromatin interactions
ENSG00000068878	chromatin interactions
ENSG00000177994	chromatin interactions

Extended variants
information (count: 1870 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1870 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574757183	chr2:54343468-54343469	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs2042143	chr2:54343514-54343515	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs563430728	chr2:54343516-54343517	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs529119890	chr2:54343565-54343566	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs551631211	chr2:54343573-54343574	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs184433045	chr2:54343600-54343601	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs149196721	chr2:54343613-54343614	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs374587578	chr2:54343628-54343629	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs201367573	chr2:54343636-54343637	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs556956888	chr2:54343639-54343640	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs199526842	chr2:54343640-54343641	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs397948536	chr2:54343655-54343656	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs76666630	chr2:54343656-54343657	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs188749762	chr2:54343671-54343672	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs564694856	chr2:54343676-54343677	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs377726719	chr2:54343684-54343685	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs547641571	chr2:54343731-54343732	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs550495833	chr2:54343748-54343749	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs181125061	chr2:54343766-54343767	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs534113016	chr2:54343782-54343783	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs546806919	chr2:54343803-54343804	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs143472399	chr2:54343842-54343843	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs549951253	chr2:54343859-54343860	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs546407871	chr2:54343860-54343861	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs185680968	chr2:54343877-54343878	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs374018338	chr2:54343948-54343949	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs538697688	chr2:54343953-54343954	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs552819742	chr2:54343957-54343958	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs566237775	chr2:54343970-54343971	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs535037600	chr2:54343981-54343982	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs191177351	chr2:54343991-54343992	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs574783238	chr2:54344007-54344008	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs180799339	chr2:54344013-54344014	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs137941313	chr2:54344015-54344016	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs576931687	chr2:54344032-54344033	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs376565566	chr2:54344065-54344066	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs142341666	chr2:54344088-54344089	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs370620310	chr2:54344110-54344111	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs187577675	chr2:54344146-54344147	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs572182692	chr2:54344154-54344155	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs541001137	chr2:54344193-54344194	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs111434982	chr2:54344199-54344200	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs116147597	chr2:54344208-54344209	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs114477918	chr2:54344212-54344213	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs373919830	chr2:54344214-54344215	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs373864797	chr2:54344221-54344222	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs534417244	chr2:54344228-54344229	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs549812603	chr2:54344242-54344243	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs563240222	chr2:54344254-54344255	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs377049702	chr2:54344260-54344261	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:567 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54341800-54343600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:54341800-54343600	Active TSS	Muscle Satellite Cultured Cells	--
3	chr2:54341800-54343600	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr2:54341800-54343600	Active TSS	A549	lung
5	chr2:54341800-54344000	Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr2:54342000-54343600	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr2:54342000-54343600	Active TSS	NHLF	lung
8	chr2:54342200-54343600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:54342200-54343600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:54342200-54343600	Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr2:54342200-54343600	Active TSS	Brain Cingulate Gyrus	brain
12	chr2:54342200-54343600	Active TSS	Brain Germinal Matrix	brain
13	chr2:54342200-54343600	Active TSS	Brain Hippocampus Middle	brain
14	chr2:54342200-54343600	Active TSS	Fetal Muscle Leg	muscle
15	chr2:54342200-54343600	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr2:54342200-54343800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:54342200-54343800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:54342200-54344000	Active TSS	Brain Anterior Caudate	brain
19	chr2:54342200-54344000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:54342400-54343600	Active TSS	Brain Angular Gyrus	brain
21	chr2:54342400-54343600	Active TSS	Fetal Kidney	kidney
22	chr2:54342400-54343600	Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr2:54342400-54343600	Active TSS	Stomach Smooth Muscle	stomach
24	chr2:54342400-54343800	Active TSS	Brain Substantia Nigra	brain
25	chr2:54342400-54344000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:54342400-54344000	Active TSS	Primary T cells from cord blood	blood
27	chr2:54342400-54344000	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr2:54342600-54343600	Active TSS	Primary hematopoietic stem cells	blood
29	chr2:54342600-54343600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:54342600-54343600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:54342600-54343600	Active TSS	HUVEC	blood vessel
32	chr2:54342600-54343800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr2:54342800-54343600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:54343200-54343600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr2:54343200-54343600	Flanking Active TSS	Dnd41	blood
36	chr2:54343200-54343800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:54343200-54344000	ZNF genes & repeats	K562	blood
38	chr2:54343200-54344200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:54343200-54344200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
40	chr2:54343200-54345200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
41	chr2:54343200-54347800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:54343200-54347800	Weak transcription	Spleen	Spleen
43	chr2:54343200-54350600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:54343400-54343600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:54343400-54343600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr2:54343400-54343600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:54343400-54343600	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr2:54343400-54343600	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr2:54343400-54343600	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr2:54343400-54343600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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