Variant report

Variant	nsv998519
Chromosome Location	chr2:128292190-128352032
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:762)
CpG islands
(count:1038)
Chromatin interactive
region (count:46)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:762 , 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	chr2:128349048-128349416	HepG2	liver:	n/a	n/a
2	ATF1	chr2:128300470-128300913	K562	blood:	n/a	n/a
3	ATF2	chr2:128321060-128321609	GM12878	blood:	n/a	n/a
4	ATF2	chr2:128348914-128349416	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr2:128320914-128321660	GM12878	blood:	n/a	n/a
6	BACH1	chr2:128343035-128343230	K562	blood:	n/a	n/a
7	BACH1	chr2:128349033-128349329	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr2:128321260-128321654	GM12878	blood:	n/a	n/a
9	BATF	chr2:128321136-128321858	GM12878	blood:	n/a	n/a
10	BCL11A	chr2:128321116-128321593	GM12878	blood:	n/a	n/a
11	BCL11A	chr2:128321108-128321562	GM12878	blood:	n/a	n/a
12	BCLAF1	chr2:128321005-128321709	GM12878	blood:	n/a	n/a
13	BCLAF1	chr2:128349073-128349341	GM12878	blood:	n/a	n/a
14	BHLHE40	chr2:128295358-128295629	K562	blood:	n/a	n/a
15	BHLHE40	chr2:128349045-128349370	K562	blood:	n/a	n/a
16	BHLHE40	chr2:128321075-128321680	GM12878	blood:	n/a	n/a
17	BHLHE40	chr2:128300682-128300922	K562	blood:	n/a	n/a
18	BRCA1	chr2:128318445-128318564	HepG2	liver:	n/a	n/a
19	CBX3	chr2:128300436-128301011	K562	blood:	n/a	n/a
20	CBX3	chr2:128348982-128349342	K562	blood:	n/a	n/a
21	CCNT2	chr2:128300633-128300900	K562	blood:	n/a	n/a
22	CEBPB	chr2:128349000-128349373	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr2:128349142-128349337	HepG2	liver:	n/a	n/a
24	CEBPB	chr2:128301648-128301815	HepG2	liver:	n/a	chr2:128301707-128301718
25	CEBPB	chr2:128321130-128321745	GM12878	blood:	n/a	n/a
26	CEBPB	chr2:128349084-128349423	HepG2	liver:	n/a	n/a
27	CEBPB	chr2:128303168-128303426	K562	blood:	n/a	chr2:128303314-128303325
28	CEBPB	chr2:128349086-128349381	K562	blood:	n/a	n/a
29	CEBPB	chr2:128303142-128303494	HepG2	liver:	n/a	chr2:128303314-128303325
30	CEBPB	chr2:128330615-128330620	HepG2	liver:	n/a	n/a
31	CEBPB	chr2:128301640-128301840	K562	blood:	n/a	chr2:128301707-128301718
32	CEBPB	chr2:128317875-128318064	HepG2	liver:	n/a	n/a
33	CEBPB	chr2:128303178-128303466	IMR90	lung:	n/a	chr2:128303314-128303325
34	CEBPB	chr2:128303227-128303474	A549	lung:	n/a	chr2:128303314-128303325
35	CEBPD	chr2:128349131-128349314	HepG2	liver:	n/a	n/a
36	CEBPD	chr2:128300528-128301002	K562	blood:	n/a	n/a
37	CEBPD	chr2:128300558-128300959	K562	blood:	n/a	n/a
38	CHD2	chr2:128349065-128349344	K562	blood:	n/a	n/a
39	CHD2	chr2:128348982-128349275	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr2:128349131-128349289	HepG2	liver:	n/a	n/a
41	CHD2	chr2:128349251-128349257	Hela-S3	cervix:	n/a	n/a
42	CHD2	chr2:128321841-128321914	GM12878	blood:	n/a	n/a
43	CHD2	chr2:128321075-128321640	GM12878	blood:	n/a	n/a
44	CREB1	chr2:128321010-128321683	GM12878	blood:	n/a	n/a
45	CREB1	chr2:128348975-128349378	A549	lung:	n/a	n/a
46	CTCF	chr2:128321040-128321190	GM12872	blood:	n/a	n/a
47	CTCF	chr2:128349076-128349358	GM10266	blood:	n/a	chr2:128349252-128349265 chr2:128349212-128349228 chr2:128349211-128349229 chr2:128349234-128349242
48	CTCF	chr2:128318100-128318250	HepG2	liver:	n/a	n/a
49	CTCF	chr2:128349062-128349376	MCF-7	breast:	n/a	chr2:128349252-128349265 chr2:128349212-128349228 chr2:128349211-128349229 chr2:128349234-128349242
50	CTCF	chr2:128332802-128332910	GM12892	blood:	n/a	n/a

(count:1038 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:128298086-128298136	HCF	heart:	n/a
2	chr2:128298086-128298136	HCF	heart:	n/a
3	chr2:128292321-128292371	U87	brain:	n/a
4	chr2:128348899-128348949	HUVEC	blood vessel:	n/a
5	chr2:128331593-128331643	ProgFib	skin:	n/a
6	chr2:128334565-128334615	IMR90	lung:	fetal
7	chr2:128331593-128331643	HRPEpiC	eye:	n/a
8	chr2:128348899-128348949	IMR90	lung:	fetal
9	chr2:128350572-128350622	HPAEpiC	pulmonary alveolar:	n/a
10	chr2:128351542-128351592	GM06990	blood:	n/a
11	chr2:128350572-128350622	SK-N-SH_RA	brain:	n/a
12	chr2:128334565-128334615	BJ	skin:	n/a
13	chr2:128331518-128331568	HCM	heart:	n/a
14	chr2:128331593-128331643	A549	lung:	n/a
15	chr2:128350306-128350356	GM06990	blood:	n/a
16	chr2:128331478-128331528	AoSMC	blood vessel:	n/a
17	chr2:128350572-128350622	GM12878	blood:	n/a
18	chr2:128331593-128331643	HEK293	kidney:	embryo
19	chr2:128331593-128331643	HL-60	blood:	n/a
20	chr2:128348899-128348949	ECC-1	luminal epithelium:	n/a
21	chr2:128331478-128331528	U87	brain:	n/a
22	chr2:128350748-128350798	GM19239	blood:	n/a
23	chr2:128350306-128350356	NHBE	bronchial:	n/a
24	chr2:128292321-128292371	HCF	heart:	n/a
25	chr2:128347901-128347951	Hela-S3	cervix:	n/a
26	chr2:128317170-128317220	MCF10A-Er-Src	breast:	n/a
27	chr2:128293239-128293289	PrEC	prostate:	n/a
28	chr2:128331518-128331568	BE2_C	brain:	n/a
29	chr2:128293186-128293236	Hela-S3	cervix:	n/a
30	chr2:128350748-128350798	NB4	blood:	n/a
31	chr2:128350306-128350356	HL-60	blood:	n/a
32	chr2:128350442-128350492	MCF10A-Er-Src	breast:	n/a
33	chr2:128351542-128351592	NH-A	brain:	n/a
34	chr2:128298086-128298136	BE2_C	brain:	n/a
35	chr2:128292321-128292371	SKMC	muscle:	n/a
36	chr2:128293239-128293289	GM06990	blood:	n/a
37	chr2:128348899-128348949	H1-hESC	embryonic stem cell:	embryo
38	chr2:128331593-128331643	HCM	heart:	n/a
39	chr2:128351542-128351592	A549	lung:	n/a
40	chr2:128350748-128350798	A549	lung:	n/a
41	chr2:128331593-128331643	HUVEC	blood vessel:	n/a
42	chr2:128350572-128350622	NB4	blood:	n/a
43	chr2:128351542-128351592	ECC-1	luminal epithelium:	n/a
44	chr2:128348899-128348949	HCPEpiC	choroid plexus:	n/a
45	chr2:128298086-128298136	NB4	blood:	n/a
46	chr2:128334565-128334615	K562	blood:	n/a
47	chr2:128317170-128317220	SAEC	small airway:	n/a
48	chr2:128334565-128334615	HCM	heart:	n/a
49	chr2:128317170-128317220	HPAEpiC	pulmonary alveolar:	n/a
50	chr2:128331593-128331643	BJ	skin:	n/a

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:128345319..128347126-chr2:128457834..128460214,2	K562	blood:
2	chr2:128341026..128343432-chr2:128406208..128408267,2	MCF-7	breast:
3	chr2:128283130..128286145-chr2:128334041..128336604,3	K562	blood:
4	chr2:128348782..128349711-chr2:128407012..128408114,6	MCF-7	breast:
5	chr2:128317558..128319788-chr2:128331123..128332955,2	K562	blood:
6	chr2:128318000..128319961-chr2:128323554..128326504,2	K562	blood:
7	chr2:128281670..128284609-chr2:128307650..128309640,2	K562	blood:
8	chr2:128305790..128308359-chr2:128310339..128312423,2	K562	blood:
9	chr2:128340070..128342294-chr2:128344591..128347137,2	K562	blood:
10	chr2:128330113..128332946-chr2:128335527..128337654,2	K562	blood:
11	chr2:128344046..128345819-chr2:128458490..128460520,2	MCF-7	breast:
12	chr2:128348778..128349285-chr2:128408202..128409066,2	K562	blood:
13	chr2:128289324..128291170-chr2:128329795..128331725,2	MCF-7	breast:
14	chr2:128336968..128338613-chr2:128421109..128423481,2	K562	blood:
15	chr2:128336062..128337823-chr2:128338905..128341010,2	K562	blood:
16	chr2:128348763..128349664-chr2:128408092..128409288,3	MCF-7	breast:
17	chr2:128349507..128351016-chr2:128354758..128356667,2	K562	blood:
18	chr2:128349348..128351904-chr2:128462965..128465382,2	MCF-7	breast:
19	chr2:128348828..128349586-chr2:128398143..128398870,2	MCF-7	breast:
20	chr2:128283723..128286388-chr2:128321696..128326699,5	MCF-7	breast:
21	chr2:128338620..128340523-chr2:128457766..128459740,2	MCF-7	breast:
22	chr2:128283580..128286570-chr2:128296669..128298340,2	K562	blood:
23	chr2:128317558..128319788-chr2:128331123..128332955,2	K562	blood:
24	chr2:128318000..128319961-chr2:128323554..128326504,2	K562	blood:
25	chr2:128330113..128332946-chr2:128335527..128337654,2	K562	blood:
26	chr2:128348935..128349717-chr2:128397753..128398634,2	MCF-7	breast:
27	chr2:128282354..128284534-chr2:128320626..128323207,2	K562	blood:
28	chr2:128334136..128336410-chr2:128339156..128341197,2	MCF-7	breast:
29	chr2:128291415..128294126-chr2:128456158..128458697,2	K562	blood:
30	chr2:128334136..128336410-chr2:128339156..128341197,2	MCF-7	breast:
31	chr2:128348736..128349703-chr2:128407022..128407964,6	K562	blood:
32	chr2:128350066..128351938-chr2:128352163..128353978,2	MCF-7	breast:
33	chr2:128349017..128351644-chr2:128387621..128389792,2	MCF-7	breast:
34	chr2:128283198..128285584-chr2:128297350..128300267,2	MCF-7	breast:
35	chr2:128336062..128337823-chr2:128338905..128341010,2	K562	blood:
36	chr2:128348754..128349757-chr2:128407019..128407967,16	MCF-7	breast:
37	chr2:128294218..128296845-chr2:128297696..128300432,3	K562	blood:
38	chr2:128288386..128290312-chr2:128297591..128299207,2	MCF-7	breast:
39	chr2:128282885..128284606-chr2:128326771..128328709,2	MCF-7	breast:
40	chr2:128305790..128308359-chr2:128310339..128312423,2	K562	blood:
41	chr2:128331003..128333151-chr2:128458279..128460018,2	MCF-7	breast:
42	chr2:128294218..128296845-chr2:128297696..128300432,3	K562	blood:
43	chr2:128349069..128349649-chr2:128452945..128453583,3	MCF-7	breast:
44	chr2:128286477..128289407-chr2:128321219..128322909,3	MCF-7	breast:
45	chr2:128340070..128342294-chr2:128344591..128347137,2	K562	blood:
46	chr2:128349107..128352400-chr2:128458285..128460511,3	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LIMS2-3	chr2:128345637-128345930	expReg_chr2_9243_-
2	lnc-IWS1-1	chr2:128317597-128318108	ucscGeneNc_uc010fmc_1
3	lnc-IWS1-1	chr2:128322263-128322364	ENSG00000250457
4	lnc-IWS1-1	chr2:128318774-128319641	ucscGeneNc_uc010fmc_1
5	lnc-IWS1-1	chr2:128317620-128319553	ENSG00000250457

No data

Variant related genes	Relation type
MYO7B	TF binding region
MYO7B	CpG island
ENSG00000163166	chromatin interactions
ENSG00000144230	chromatin interactions
ENSG00000173349	chromatin interactions
ENSG00000072163	chromatin interactions
RTN4	miRNA target sites
DDX10	miRNA target sites

Extended variants
information (count: 2537 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:2537 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2099209	chr2:128292190-128292191	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs557517643	chr2:128292202-128292203	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs573431386	chr2:128292233-128292234	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs533390748	chr2:128292272-128292273	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs2082182	chr2:128292280-128292281	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs569999783	chr2:128292302-128292303	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs191588317	chr2:128292335-128292336	Weak transcription Enhancers Bivalent Enhancer	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs369711091	chr2:128292374-128292375	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs183259398	chr2:128292384-128292385	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs532716912	chr2:128292394-128292395	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs13415053	chr2:128292500-128292501	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs565053665	chr2:128292547-128292548	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs2099210	chr2:128292572-128292573	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs188144690	chr2:128292580-128292581	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs561039861	chr2:128292649-128292650	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs13417784	chr2:128292698-128292699	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs56862360	chr2:128292709-128292710	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs192671073	chr2:128292725-128292726	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs369086787	chr2:128292727-128292728	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs375445699	chr2:128292759-128292760	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs534734228	chr2:128292761-128292762	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs367781164	chr2:128292797-128292798	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs13393207	chr2:128292801-128292802	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs183724570	chr2:128292811-128292812	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs372903884	chr2:128292850-128292851	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs145225142	chr2:128292853-128292854	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs149085949	chr2:128292854-128292855	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs200343609	chr2:128292855-128292856	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs145918032	chr2:128292905-128292906	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs544196164	chr2:128292978-128292979	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs570991829	chr2:128292996-128292997	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs552653313	chr2:128293021-128293022	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs186732229	chr2:128293050-128293051	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs192371818	chr2:128293057-128293058	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs544692980	chr2:128293062-128293063	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs554923472	chr2:128293074-128293075	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs564880928	chr2:128293100-128293101	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs575476738	chr2:128293101-128293102	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs544490785	chr2:128293114-128293115	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs561105481	chr2:128293187-128293188	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs529922571	chr2:128293307-128293308	Bivalent Enhancer Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs557659444	chr2:128293318-128293319	Bivalent Enhancer Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs74766595	chr2:128293346-128293347	Bivalent Enhancer Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs559903806	chr2:128293363-128293364	Bivalent Enhancer Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs528572212	chr2:128293403-128293404	Bivalent Enhancer Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs574496701	chr2:128293421-128293422	Bivalent Enhancer Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs147820752	chr2:128293435-128293436	Bivalent Enhancer Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs141470657	chr2:128293472-128293473	Bivalent Enhancer Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs537386348	chr2:128293493-128293494	Bivalent Enhancer Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs75466455	chr2:128293549-128293550	Bivalent Enhancer Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:643 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128284600-128321200	Weak transcription	Spleen	Spleen
2	chr2:128285200-128292200	Enhancers	Placenta	Placenta
3	chr2:128285400-128306600	Weak transcription	Right Atrium	heart
4	chr2:128286000-128292200	Weak transcription	Small Intestine	intestine
5	chr2:128289000-128294400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:128289200-128293000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:128291000-128293200	Enhancers	Fetal Intestine Large	intestine
8	chr2:128291600-128293000	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr2:128291600-128293200	Enhancers	Duodenum Mucosa	Duodenum
10	chr2:128291600-128293200	Enhancers	Fetal Intestine Small	intestine
11	chr2:128292000-128292200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
12	chr2:128292000-128292400	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr2:128292000-128293200	Enhancers	Colonic Mucosa	Colon
14	chr2:128292200-128292600	Enhancers	Small Intestine	intestine
15	chr2:128292200-128293000	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr2:128292200-128294000	Bivalent Enhancer	HepG2	liver
17	chr2:128292400-128293200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:128293000-128293200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:128293000-128293200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr2:128293000-128293400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:128293000-128293400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:128293000-128295600	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr2:128293200-128293400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:128293200-128293600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:128293200-128293600	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr2:128293200-128293800	Active TSS	Fetal Intestine Large	intestine
27	chr2:128293200-128294000	Active TSS	Fetal Intestine Small	intestine
28	chr2:128293200-128294000	Active TSS	Small Intestine	intestine
29	chr2:128293200-128294200	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr2:128293200-128294400	Active TSS	Colonic Mucosa	Colon
31	chr2:128293200-128294600	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr2:128293200-128296000	Active TSS	Duodenum Mucosa	Duodenum
33	chr2:128293400-128294400	Active TSS	Rectal Smooth Muscle	rectum
34	chr2:128293600-128293800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:128293600-128293800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr2:128293600-128294000	Active TSS	Fetal Kidney	kidney
37	chr2:128293800-128294000	Flanking Active TSS	Fetal Intestine Large	intestine
38	chr2:128293800-128295600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:128294000-128294200	Active TSS	Fetal Intestine Large	intestine
40	chr2:128294000-128296200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
41	chr2:128294000-128299000	Weak transcription	Small Intestine	intestine
42	chr2:128294200-128294400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr2:128294200-128295800	Flanking Active TSS	Fetal Intestine Large	intestine
44	chr2:128294400-128294600	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr2:128294400-128294800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:128294400-128295800	Enhancers	Colonic Mucosa	Colon
47	chr2:128294600-128295000	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr2:128295000-128295200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr2:128295200-128295400	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr2:128295400-128295800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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