Variant report

Variant	nsv528848
Chromosome Location	chr2:54758305-54777576
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:528)
CpG islands
(count:122)
Chromatin interactive
region (count:30)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:528 , 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	ARID3A	chr2:54773647-54774065	K562	blood:	n/a	n/a
2	ARID3A	chr2:54760107-54760390	K562	blood:	n/a	n/a
3	ARID3A	chr2:54772824-54773842	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:54759531-54760565	HepG2	liver:	n/a	n/a
5	ATF1	chr2:54760172-54760428	K562	blood:	n/a	n/a
6	ATF3	chr2:54760064-54760598	A549	lung:	n/a	n/a
7	ATF3	chr2:54772755-54773367	A549	lung:	n/a	n/a
8	ATF3	chr2:54759950-54760632	A549	lung:	n/a	n/a
9	BCL3	chr2:54759505-54760628	A549	lung:	n/a	n/a
10	BCL3	chr2:54759384-54760772	A549	lung:	n/a	n/a
11	BCLAF1	chr2:54760320-54760571	GM12878	blood:	n/a	n/a
12	BHLHE40	chr2:54772897-54773495	HepG2	liver:	n/a	n/a
13	BHLHE40	chr2:54759591-54759890	HepG2	liver:	n/a	n/a
14	BHLHE40	chr2:54759619-54759980	HepG2	liver:	n/a	n/a
15	BHLHE40	chr2:54760202-54760421	K562	blood:	n/a	n/a
16	BHLHE40	chr2:54774146-54774370	GM12878	blood:	n/a	n/a
17	BHLHE40	chr2:54773027-54773137	GM12878	blood:	n/a	n/a
18	BHLHE40	chr2:54759627-54759987	A549	lung:	n/a	n/a
19	BHLHE40	chr2:54758857-54759056	K562	blood:	n/a	n/a
20	BHLHE40	chr2:54759585-54760516	HepG2	liver:	n/a	n/a
21	BRCA1	chr2:54758714-54759024	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr2:54759820-54760621	Hela-S3	cervix:	n/a	n/a
23	CCNT2	chr2:54758631-54758946	K562	blood:	n/a	n/a
24	CEBPB	chr2:54762974-54763201	IMR90	lung:	n/a	chr2:54763107-54763118
25	CEBPB	chr2:54772882-54773650	HepG2	liver:	n/a	n/a
26	CEBPB	chr2:54760085-54760712	HCT-116	colon:	n/a	chr2:54760342-54760353
27	CEBPB	chr2:54760147-54760518	K562	blood:	n/a	chr2:54760342-54760353
28	CEBPB	chr2:54760102-54760509	K562	blood:	n/a	chr2:54760342-54760353
29	CEBPB	chr2:54760087-54760623	MCF-7	breast:	n/a	chr2:54760342-54760353
30	CEBPB	chr2:54759422-54760747	A549	lung:	n/a	chr2:54760342-54760353 chr2:54759922-54759933
31	CEBPB	chr2:54758640-54759066	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr2:54759892-54760781	HCT-116	colon:	n/a	chr2:54760342-54760353 chr2:54759922-54759933
33	CEBPB	chr2:54760168-54760472	K562	blood:	n/a	chr2:54760342-54760353
34	CEBPB	chr2:54762994-54763217	A549	lung:	n/a	chr2:54763107-54763118
35	CEBPB	chr2:54760142-54760527	HepG2	liver:	n/a	chr2:54760342-54760353
36	CEBPB	chr2:54772784-54773620	A549	lung:	n/a	n/a
37	CEBPB	chr2:54760117-54760674	A549	lung:	n/a	chr2:54760342-54760353
38	CEBPB	chr2:54763005-54763216	Hela-S3	cervix:	n/a	chr2:54763107-54763118
39	CEBPB	chr2:54760171-54760471	H1-hESC	embryonic stem cell:	n/a	chr2:54760342-54760353
40	CEBPB	chr2:54760037-54760645	MCF-7	breast:	n/a	chr2:54760342-54760353
41	CEBPB	chr2:54759567-54760542	HepG2	liver:	n/a	chr2:54760342-54760353 chr2:54759922-54759933
42	CEBPB	chr2:54772913-54773502	A549	lung:	n/a	n/a
43	CEBPB	chr2:54763054-54763152	H1-hESC	embryonic stem cell:	n/a	chr2:54763107-54763118
44	CEBPB	chr2:54773256-54773462	HepG2	liver:	n/a	n/a
45	CEBPB	chr2:54763003-54763206	HepG2	liver:	n/a	chr2:54763107-54763118
46	CEBPB	chr2:54759585-54759937	HepG2	liver:	n/a	chr2:54759922-54759933
47	CEBPB	chr2:54762956-54763236	K562	blood:	n/a	chr2:54763107-54763118
48	CEBPB	chr2:54772907-54773523	HepG2	liver:	n/a	n/a
49	CEBPB	chr2:54759620-54759938	HepG2	liver:	n/a	chr2:54759922-54759933
50	CEBPB	chr2:54772946-54773478	IMR90	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:54773290-54773340	AG09319	gingival:	n/a
2	chr2:54760330-54760380	HepG2	liver:	n/a
3	chr2:54773290-54773340	HUVEC	blood vessel:	n/a
4	chr2:54760330-54760380	HRCEpiC	kidney:	n/a
5	chr2:54760330-54760380	PANC-1	pancreas:	n/a
6	chr2:54760330-54760380	H1-hESC	embryonic stem cell:	embryo
7	chr2:54760330-54760380	HAEpiC	amniotic membrane:	n/a
8	chr2:54773290-54773340	HNPCEpiC	eye:	n/a
9	chr2:54760330-54760380	HCPEpiC	choroid plexus:	n/a
10	chr2:54760330-54760380	HEEpiC	esophagus:	n/a
11	chr2:54773290-54773340	PANC-1	pancreas:	n/a
12	chr2:54773290-54773340	ovcar-3	ovarian:	n/a
13	chr2:54773290-54773340	SKMC	muscle:	n/a
14	chr2:54773290-54773340	NT2-D1	testis:	n/a
15	chr2:54773290-54773340	HCM	heart:	n/a
16	chr2:54760330-54760380	CMK	blood:	n/a
17	chr2:54760330-54760380	NH-A	brain:	n/a
18	chr2:54773290-54773340	AG09309	skin:	n/a
19	chr2:54773290-54773340	HCF	heart:	n/a
20	chr2:54760330-54760380	NHDF-neo	bronchial:	n/a
21	chr2:54773290-54773340	HL-60	blood:	n/a
22	chr2:54773290-54773340	Caco-2	colon:	n/a
23	chr2:54773290-54773340	SK-N-SH	brain:	n/a
24	chr2:54760330-54760380	PrEC	prostate:	n/a
25	chr2:54760330-54760380	RPTEC	kidney:	n/a
26	chr2:54760330-54760380	AG04449	skin:	fetal
27	chr2:54773290-54773340	HCT-116	colon:	n/a
28	chr2:54773290-54773340	AG04450	lung:	fetal
29	chr2:54773290-54773340	T-47D	breast:	n/a
30	chr2:54760330-54760380	HPAEpiC	pulmonary alveolar:	n/a
31	chr2:54760330-54760380	SAEC	small airway:	n/a
32	chr2:54760330-54760380	SKMC	muscle:	n/a
33	chr2:54773290-54773340	U87	brain:	n/a
34	chr2:54760330-54760380	HUVEC	blood vessel:	n/a
35	chr2:54773290-54773340	HMEC	breast:	n/a
36	chr2:54760330-54760380	PFSK-1	brain:	n/a
37	chr2:54773290-54773340	RPTEC	kidney:	n/a
38	chr2:54760330-54760380	HEK293	kidney:	embryo
39	chr2:54773290-54773340	ECC-1	luminal epithelium:	n/a
40	chr2:54760330-54760380	NT2-D1	testis:	n/a
41	chr2:54773290-54773340	NHBE	bronchial:	n/a
42	chr2:54760330-54760380	GM12892	blood:	n/a
43	chr2:54773290-54773340	GM19239	blood:	n/a
44	chr2:54773290-54773340	HRE	kidney:	n/a
45	chr2:54773290-54773340	ProgFib	skin:	n/a
46	chr2:54760330-54760380	AG04450	lung:	fetal
47	chr2:54760330-54760380	SK-N-SH_RA	brain:	n/a
48	chr2:54760330-54760380	AG09309	skin:	n/a
49	chr2:54760330-54760380	GM06990	blood:	n/a
50	chr2:54760330-54760380	AG10803	skin:	n/a

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:54760402..54763033-chr2:54763448..54765136,2	MCF-7	breast:
2	chr2:54759200..54761130-chr2:54762739..54764614,2	K562	blood:
3	chr2:54770128..54773516-chr2:54775238..54777528,3	MCF-7	breast:
4	chr2:54758614..54760270-chr2:54799626..54801180,2	MCF-7	breast:
5	chr2:54761029..54763821-chr2:54783036..54786331,4	K562	blood:
6	chr2:54759200..54761130-chr2:54762739..54764614,2	K562	blood:
7	chr2:54763693..54765544-chr2:54775882..54778958,3	MCF-7	breast:
8	chr2:54761550..54763887-chr2:54765151..54767469,2	K562	blood:
9	chr2:54771500..54773380-chr2:54779555..54782261,2	MCF-7	breast:
10	chr2:54761267..54763626-chr2:54824184..54826863,2	K562	blood:
11	chr2:54761550..54763887-chr2:54765151..54767469,2	K562	blood:
12	chr2:54759032..54761078-chr2:54799312..54800939,2	MCF-7	breast:
13	chr2:54764232..54766337-chr2:54769153..54772806,3	K562	blood:
14	chr2:54759443..54762729-chr2:54766620..54769498,3	MCF-7	breast:
15	chr2:54763693..54765544-chr2:54775882..54778958,3	MCF-7	breast:
16	chr2:54763015..54764801-chr2:54803765..54806395,2	K562	blood:
17	chr2:54767808..54771330-chr2:54771769..54776449,4	K562	blood:
18	chr2:54760402..54763033-chr2:54763448..54765136,2	MCF-7	breast:
19	chr2:54777010..54778863-chr2:54780329..54781851,2	MCF-7	breast:
20	chr2:54764431..54771229-chr2:54784220..54787609,7	MCF-7	breast:
21	chr2:54196354..54198285-chr2:54758115..54760291,3	MCF-7	breast:
22	chr2:54752145..54754517-chr2:54758567..54761057,2	MCF-7	breast:
23	chr2:54757446..54759466-chr2:54767763..54770756,2	K562	blood:
24	chr2:54761132..54763342-chr2:54783145..54786144,3	MCF-7	breast:
25	chr2:54764181..54766561-chr2:54813594..54815881,2	K562	blood:
26	chr2:54770128..54773516-chr2:54775238..54777528,3	MCF-7	breast:
27	chr2:54767808..54771330-chr2:54771769..54776449,4	K562	blood:
28	chr2:54757606..54758404-chr4:140718590..140719415,2	MCF-7	breast:
29	chr2:54764232..54766337-chr2:54769153..54772806,3	K562	blood:
30	chr2:54754602..54758699-chr2:54783105..54787010,4	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSPYL6-3	chr2:54773608-54773814	ENSG00000234943.2
2	lnc-TSPYL6-3	chr2:54772505-54772674	ENSG00000234943.2
3	lnc-TSPYL6-2	chr2:54762177-54762275	ENSG00000228108.1
4	lnc-TSPYL6-2	chr2:54767736-54767834	ENSG00000228108.1

No data

Variant related genes	Relation type
ENSG00000234943	TF binding region
ENSG00000228108	TF binding region
ENSG00000234943	CpG island
ENSG00000228108	CpG island
ENSG00000234943	chromatin interactions
ENSG00000170634	chromatin interactions
ENSG00000115306	chromatin interactions
ENSG00000228108	chromatin interactions
ENSG00000068878	chromatin interactions

Extended variants
information (count: 652 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:652 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6710191	chr2:54758305-54758306	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs185927659	chr2:54758321-54758322	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs554930208	chr2:54758341-54758342	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs148203780	chr2:54758355-54758356	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs544761533	chr2:54758372-54758373	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs546152938	chr2:54758408-54758409	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs375322884	chr2:54758409-54758410	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs558085555	chr2:54758410-54758411	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs578093617	chr2:54758483-54758484	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs192022458	chr2:54758560-54758561	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs368338937	chr2:54758577-54758578	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs560615105	chr2:54758592-54758593	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs11885098	chr2:54758602-54758603	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs140100802	chr2:54758603-54758604	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs146997245	chr2:54758609-54758610	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs564652113	chr2:54758615-54758616	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs528771227	chr2:54758700-54758701	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs71408766	chr2:54758745-54758746	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs530734784	chr2:54758757-54758758	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs181658018	chr2:54758819-54758820	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs35821275	chr2:54758861-54758862	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs564132953	chr2:54758868-54758869	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs370876129	chr2:54758874-54758875	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs546383970	chr2:54758911-54758912	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs566268076	chr2:54758921-54758922	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs73934324	chr2:54758938-54758939	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs143594433	chr2:54758950-54758951	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs377212361	chr2:54758951-54758952	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs538166772	chr2:54759005-54759006	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs558384793	chr2:54759187-54759188	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs370367042	chr2:54759250-54759251	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs548945810	chr2:54759294-54759295	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs111604131	chr2:54759301-54759302	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs186759843	chr2:54759332-54759333	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs56726104	chr2:54759340-54759341	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs543115252	chr2:54759374-54759375	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs562755438	chr2:54759375-54759376	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs576343205	chr2:54759377-54759378	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs191154453	chr2:54759400-54759401	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs375306022	chr2:54759409-54759410	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs547588003	chr2:54759433-54759434	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs367860073	chr2:54759461-54759462	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs10171393	chr2:54759549-54759550	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs182327053	chr2:54759627-54759628	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs4671950	chr2:54759730-54759731	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs528972340	chr2:54759733-54759734	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs17343918	chr2:54759752-54759753	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs539040605	chr2:54759768-54759769	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs4671951	chr2:54759791-54759792	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs537894697	chr2:54759945-54759946	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:823 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54740400-54770200	Weak transcription	Esophagus	oesophagus
2	chr2:54740600-54761800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:54744000-54777600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:54744400-54769600	Weak transcription	Spleen	Spleen
5	chr2:54746600-54758400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:54747000-54760600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:54747200-54761800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:54747200-54769800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:54748400-54768000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:54748400-54776800	Weak transcription	Pancreas	Pancrea
11	chr2:54750800-54759200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:54750800-54769800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:54751000-54759400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr2:54751000-54759600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:54751000-54760200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:54752000-54760200	Weak transcription	Colonic Mucosa	Colon
17	chr2:54752000-54764600	Weak transcription	Gastric	stomach
18	chr2:54752200-54759600	Weak transcription	Small Intestine	intestine
19	chr2:54752200-54767600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:54752200-54777800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr2:54752400-54759600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr2:54752600-54758600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:54752600-54759800	Weak transcription	GM12878-XiMat	blood
24	chr2:54753000-54758800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:54753000-54759000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:54753200-54759800	Strong transcription	Adipose Nuclei	Adipose
27	chr2:54753400-54758600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:54753400-54758800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:54753600-54758600	Strong transcription	Fetal Lung	lung
30	chr2:54753800-54764800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr2:54753800-54768200	Strong transcription	Fetal Muscle Leg	muscle
32	chr2:54754000-54760200	Weak transcription	Colon Smooth Muscle	Colon
33	chr2:54754400-54759800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr2:54754400-54767800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:54754600-54760000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:54754800-54759000	Strong transcription	HSMM	muscle
37	chr2:54754800-54767800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr2:54755000-54758800	Weak transcription	Lung	lung
39	chr2:54755000-54761000	Weak transcription	Right Ventricle	heart
40	chr2:54755000-54767600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:54755200-54759800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:54755400-54758600	Weak transcription	Liver	Liver
43	chr2:54755400-54762600	Enhancers	Placenta Amnion	Placenta Amnion
44	chr2:54755600-54758600	Strong transcription	Fetal Heart	heart
45	chr2:54755600-54761200	Weak transcription	Fetal Brain Male	brain
46	chr2:54756000-54758400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:54756000-54758600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:54756000-54759400	Strong transcription	Fetal Stomach	stomach
49	chr2:54756200-54758800	Genic enhancers	HepG2	liver
50	chr2:54756400-54759000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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