Variant report

Variant	nsv904217
Chromosome Location	chr15:51695653-51881980
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1400)
CpG islands
(count:305)
Chromatin interactive
region (count:184)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:1400 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:51871485-51871486	K562	blood:	n/a	n/a
2	ARID3A	chr15:51869305-51869743	K562	blood:	n/a	n/a
3	ARID3A	chr15:51777123-51777159	HepG2	liver:	n/a	n/a
4	ARID3A	chr15:51762752-51763140	HepG2	liver:	n/a	n/a
5	ARID3A	chr15:51873449-51874120	K562	blood:	n/a	n/a
6	ARID3A	chr15:51872535-51873050	K562	blood:	n/a	n/a
7	ARID3A	chr15:51870029-51870641	K562	blood:	n/a	n/a
8	ARID3A	chr15:51785803-51787439	HepG2	liver:	n/a	n/a
9	ARID3A	chr15:51715479-51715733	K562	blood:	n/a	n/a
10	ARID3A	chr15:51829219-51829543	K562	blood:	n/a	n/a
11	ARID3A	chr15:51740038-51740663	HepG2	liver:	n/a	n/a
12	ARID3A	chr15:51695561-51695844	HepG2	liver:	n/a	n/a
13	ATF1	chr15:51872652-51872968	K562	blood:	n/a	n/a
14	ATF1	chr15:51869224-51869631	K562	blood:	n/a	n/a
15	BACH1	chr15:51696717-51696732	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr15:51742307-51742548	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr15:51837448-51837464	K562	blood:	n/a	n/a
18	BATF	chr15:51826141-51826489	GM12878	blood:	n/a	chr15:51826320-51826331
19	BHLHE40	chr15:51868654-51868977	K562	blood:	n/a	n/a
20	BHLHE40	chr15:51738546-51738749	GM12878	blood:	n/a	n/a
21	BHLHE40	chr15:51861393-51861769	K562	blood:	n/a	n/a
22	BRCA1	chr15:51696286-51696297	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr15:51859110-51859141	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr15:51827521-51827564	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr15:51717119-51717187	Hela-S3	cervix:	n/a	n/a
26	CBX3	chr15:51777015-51777300	K562	blood:	n/a	n/a
27	CBX3	chr15:51742053-51742712	HCT-116	colon:	n/a	n/a
28	CBX3	chr15:51715524-51716064	K562	blood:	n/a	n/a
29	CBX3	chr15:51776958-51777361	K562	blood:	n/a	n/a
30	CBX3	chr15:51736991-51737380	K562	blood:	n/a	n/a
31	CCNT2	chr15:51870168-51870404	K562	blood:	n/a	n/a
32	CCNT2	chr15:51834574-51834704	K562	blood:	n/a	n/a
33	CCNT2	chr15:51872739-51873018	K562	blood:	n/a	n/a
34	CEBPB	chr15:51847213-51847445	MCF-7	breast:	n/a	n/a
35	CEBPB	chr15:51772221-51772316	A549	lung:	n/a	n/a
36	CEBPB	chr15:51868703-51869797	MCF-7	breast:	n/a	chr15:51869180-51869191
37	CEBPB	chr15:51780943-51781233	A549	lung:	n/a	chr15:51781121-51781132
38	CEBPB	chr15:51723485-51723691	K562	blood:	n/a	chr15:51723548-51723559
39	CEBPB	chr15:51742009-51742751	HCT-116	colon:	n/a	chr15:51742712-51742725
40	CEBPB	chr15:51723507-51723625	HepG2	liver:	n/a	chr15:51723548-51723559
41	CEBPB	chr15:51786118-51786410	IMR90	lung:	n/a	n/a
42	CEBPB	chr15:51868995-51869361	ECC-1	luminal epithelium:	n/a	chr15:51869180-51869191
43	CEBPB	chr15:51741178-51741464	HepG2	liver:	n/a	n/a
44	CEBPB	chr15:51716856-51717403	MCF-7	breast:	n/a	n/a
45	CEBPB	chr15:51772165-51772378	IMR90	lung:	n/a	n/a
46	CEBPB	chr15:51723429-51723618	IMR90	lung:	n/a	chr15:51723548-51723559
47	CEBPB	chr15:51786177-51786317	HepG2	liver:	n/a	n/a
48	CEBPB	chr15:51871208-51871704	K562	blood:	n/a	chr15:51871428-51871441 chr15:51871430-51871439 chr15:51871429-51871440 chr15:51871430-51871439 chr15:51871430-51871439 chr15:51871427-51871444
49	CEBPB	chr15:51751771-51751816	HepG2	liver:	n/a	n/a
50	CEBPB	chr15:51761814-51762007	IMR90	lung:	n/a	chr15:51761907-51761920

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:51740698-51740748	HCF	heart:	n/a
2	chr15:51695713-51695763	HL-60	blood:	n/a
3	chr15:51695713-51695763	NT2-D1	testis:	n/a
4	chr15:51786154-51786204	AG09309	skin:	n/a
5	chr15:51740698-51740748	HUVEC	blood vessel:	n/a
6	chr15:51695713-51695763	AG09319	gingival:	n/a
7	chr15:51699392-51699442	H1-hESC	embryonic stem cell:	embryo
8	chr15:51695713-51695763	HRPEpiC	eye:	n/a
9	chr15:51762495-51762545	HL-60	blood:	n/a
10	chr15:51695713-51695763	NHDF-neo	bronchial:	n/a
11	chr15:51762495-51762545	HCT-116	colon:	n/a
12	chr15:51699392-51699442	PANC-1	pancreas:	n/a
13	chr15:51740698-51740748	AG04449	skin:	fetal
14	chr15:51786154-51786204	GM12891	blood:	n/a
15	chr15:51740698-51740748	NHBE	bronchial:	n/a
16	chr15:51695713-51695763	CMK	blood:	n/a
17	chr15:51762495-51762545	Jurkat	blood:	n/a
18	chr15:51762495-51762545	ProgFib	skin:	n/a
19	chr15:51695713-51695763	HepG2	liver:	n/a
20	chr15:51762495-51762545	HMEC	breast:	n/a
21	chr15:51762495-51762545	GM12892	blood:	n/a
22	chr15:51699392-51699442	SK-N-SH_RA	brain:	n/a
23	chr15:51695713-51695763	GM06990	blood:	n/a
24	chr15:51699392-51699442	AG09309	skin:	n/a
25	chr15:51762495-51762545	AoSMC	blood vessel:	n/a
26	chr15:51695713-51695763	ECC-1	luminal epithelium:	n/a
27	chr15:51786154-51786204	Hela-S3	cervix:	n/a
28	chr15:51695713-51695763	NB4	blood:	n/a
29	chr15:51740698-51740748	HEEpiC	esophagus:	n/a
30	chr15:51740698-51740748	HCPEpiC	choroid plexus:	n/a
31	chr15:51695713-51695763	Caco-2	colon:	n/a
32	chr15:51762495-51762545	PANC-1	pancreas:	n/a
33	chr15:51786154-51786204	NH-A	brain:	n/a
34	chr15:51786154-51786204	AG09319	gingival:	n/a
35	chr15:51762495-51762545	NT2-D1	testis:	n/a
36	chr15:51695713-51695763	HRE	kidney:	n/a
37	chr15:51762495-51762545	GM12891	blood:	n/a
38	chr15:51786154-51786204	PrEC	prostate:	n/a
39	chr15:51695713-51695763	GM19239	blood:	n/a
40	chr15:51699392-51699442	HL-60	blood:	n/a
41	chr15:51695713-51695763	SK-N-SH_RA	brain:	n/a
42	chr15:51786154-51786204	Caco-2	colon:	n/a
43	chr15:51786154-51786204	T-47D	breast:	n/a
44	chr15:51740698-51740748	LNCaP	prostate:	n/a
45	chr15:51786154-51786204	PFSK-1	brain:	n/a
46	chr15:51762495-51762545	HCM	heart:	n/a
47	chr15:51695713-51695763	HCPEpiC	choroid plexus:	n/a
48	chr15:51762495-51762545	HEK293	kidney:	embryo
49	chr15:51699392-51699442	BE2_C	brain:	n/a
50	chr15:51740698-51740748	GM12878	blood:	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr15:51872223..51874383-chr15:51891737..51894519,2	MCF-7	breast:
2	chr15:51811820..51813390-chr15:51823988..51825927,2	K562	blood:
3	chr15:51857366..51859999-chr15:51867554..51870226,2	MCF-7	breast:
4	chr15:51674679..51675595-chr15:51694683..51695865,4	MCF-7	breast:
5	chr15:51827966..51831646-chr15:51914070..51917015,5	MCF-7	breast:
6	chr15:51828678..51829913-chr15:51881158..51882720,13	MCF-7	breast:
7	chr15:51828912..51831495-chr15:51835540..51837204,2	K562	blood:
8	chr15:51880703..51883110-chr15:51892306..51895178,2	MCF-7	breast:
9	chr15:51830037..51835307-chr15:51835451..51839022,5	MCF-7	breast:
10	chr15:51770845..51772566-chr15:51776340..51779147,2	MCF-7	breast:
11	chr15:51829420..51832370-chr15:51850921..51852494,2	K562	blood:
12	chr15:51799531..51802188-chr15:51804343..51807032,2	MCF-7	breast:
13	chr15:51693668..51696563-chr15:51791743..51794551,3	MCF-7	breast:
14	chr15:51812082..51813725-chr15:51814759..51816922,2	K562	blood:
15	chr15:51838753..51841141-chr15:51845235..51847701,2	MCF-7	breast:
16	chr15:51521884..51522667-chr15:51695601..51696769,4	MCF-7	breast:
17	chr15:51674764..51675767-chr15:51789347..51790526,3	MCF-7	breast:
18	chr15:51750980..51752595-chr15:51769359..51771775,2	MCF-7	breast:
19	chr15:51762215..51767323-chr15:51771205..51773538,4	MCF-7	breast:
20	chr15:51703226..51705679-chr15:51790257..51792608,2	MCF-7	breast:
21	chr15:51879008..51880912-chr15:51891609..51894579,2	K562	blood:
22	chr15:51808318..51810633-chr15:51812373..51815352,2	K562	blood:
23	chr15:51850776..51853114-chr15:51857190..51858738,2	K562	blood:
24	chr15:51828366..51830744-chr15:51830911..51832606,2	MCF-7	breast:
25	chr15:51793814..51797764-chr15:51797866..51800852,4	MCF-7	breast:
26	chr15:51833348..51836933-chr15:51844447..51846431,3	MCF-7	breast:
27	chr15:51861248..51863140-chr15:51914368..51916557,2	MCF-7	breast:
28	chr15:51753717..51756435-chr15:51759553..51761218,2	K562	blood:
29	chr15:51856573..51860560-chr15:51913023..51916306,6	MCF-7	breast:
30	chr15:51489389..51491671-chr15:51763794..51765995,2	MCF-7	breast:
31	chr15:51806249..51808093-chr15:51816177..51818172,2	MCF-7	breast:
32	chr15:51870256..51872104-chr15:51873625..51875575,3	K562	blood:
33	chr15:51824663..51827027-chr15:51829318..51831016,2	K562	blood:
34	chr15:51820517..51823414-chr15:51826309..51828768,2	K562	blood:
35	chr15:51727549..51728106-chr5:174151015..174151699,2	MCF-7	breast:
36	chr15:51791214..51792773-chr15:51798432..51801383,2	K562	blood:
37	chr15:51796127..51797657-chr15:51807197..51809893,2	MCF-7	breast:
38	chr15:51867811..51869730-chr15:51913400..51915633,2	MCF-7	breast:
39	chr15:51796127..51797657-chr15:51807197..51809893,2	MCF-7	breast:
40	chr15:51751987..51754955-chr15:51756566..51759249,2	MCF-7	breast:
41	chr15:51844973..51847549-chr15:53093703..53095676,2	MCF-7	breast:
42	chr15:51846158..51849118-chr15:51859655..51862008,2	MCF-7	breast:
43	chr15:51860984..51863229-chr15:51878270..51880253,2	MCF-7	breast:
44	chr15:51752661..51754264-chr15:51765649..51768116,2	MCF-7	breast:
45	chr15:51793814..51797764-chr15:51797866..51800852,4	MCF-7	breast:
46	chr15:51755527..51758457-chr15:51791082..51792590,2	MCF-7	breast:
47	chr15:51871179..51874131-chr15:51904506..51906716,2	K562	blood:
48	chr15:51790521..51793289-chr15:51842403..51845219,2	K562	blood:
49	chr15:51797075..51799588-chr15:51799701..51803630,3	MCF-7	breast:
50	chr15:51820517..51823414-chr15:51826309..51828768,2	K562	blood:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GLDN-2	chr15:51750101-51750250	ENSG00000259668.1
2	lnc-GLDN-3	chr15:51790965-51791030	ENSG00000259678.1
3	lnc-GLDN-2	chr15:51750917-51751126	ENSG00000259668.1
4	lnc-GLDN-3	chr15:51706294-51706397	ENSG00000259678.1
5	lnc-GLDN-3	chr15:51746272-51746336	ENSG00000259678.1
6	lnc-GLDN-3	chr15:51740655-51740811	ENSG00000259678.1
7	lnc-GLDN-2	chr15:51750917-51751126	ENSG00000259668.1
8	lnc-GLDN-2	chr15:51752552-51752763	ENSG00000259668.1
9	lnc-GLDN-3	chr15:51758387-51758520	ENSG00000259678.1
10	lnc-GLDN-2	chr15:51752495-51752764	ENSG00000259668.1
11	lnc-GLDN-3	chr15:51758693-51758726	ENSG00000259678.1
12	lnc-GLDN-2	chr15:51750113-51750250	ENSG00000259668.1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	DMXL2	hsa-miR-19b-3p	chr15:51740556-51740579
2	DMXL2	hsa-miR-19b-3p	chr15:51740562-51740555
3	DMXL2	hsa-miR-26b-5p	chr15:51740885-51740905

Variant related genes	Relation type
ENSG00000259668	TF binding region
DMXL2	TF binding region
ENSG00000259678	TF binding region
ENSG00000259668	CpG island
DMXL2	CpG island
ENSG00000259678	CpG island
ENSG00000128872	chromatin interactions
ENSG00000259668	chromatin interactions
ENSG00000120149	chromatin interactions
ENSG00000104093	chromatin interactions
ENSG00000069966	chromatin interactions

Extended variants
information (count: 6714 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:6714 , 50 per page) page: 1 2 3 4 5 6 7 ... 135

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2470192	chr15:51695653-51695654	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs528796887	chr15:51695669-51695670	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537376966	chr15:51695679-51695680	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79376170	chr15:51695685-51695686	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527587735	chr15:51695713-51695714	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2470193	chr15:51695735-51695736	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs192798475	chr15:51695752-51695753	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147967798	chr15:51695787-51695788	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17704616	chr15:51695815-51695816	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs535307849	chr15:51695817-51695818	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs377123349	chr15:51695882-51695883	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs557152086	chr15:51695932-51695933	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs575585920	chr15:51695989-51695990	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs2445751	chr15:51696003-51696004	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs184809405	chr15:51696006-51696007	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549879390	chr15:51696032-51696033	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540275379	chr15:51696133-51696134	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375579185	chr15:51696143-51696144	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73397548	chr15:51696152-51696153	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs189076601	chr15:51696217-51696218	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111351124	chr15:51696227-51696228	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112602055	chr15:51696228-51696229	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76078239	chr15:51696229-51696230	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548473768	chr15:51696244-51696245	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181429600	chr15:51696269-51696270	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538316478	chr15:51696295-51696296	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78329489	chr15:51696297-51696298	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138357079	chr15:51696338-51696339	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140999503	chr15:51696353-51696354	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73397550	chr15:51696359-51696360	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs547184984	chr15:51696375-51696376	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547039623	chr15:51696376-51696377	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115706899	chr15:51696378-51696379	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535971419	chr15:51696382-51696383	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2459399	chr15:51696422-51696423	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs141816048	chr15:51696472-51696473	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371247851	chr15:51696497-51696498	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147089740	chr15:51696509-51696510	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376274659	chr15:51696532-51696533	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113172271	chr15:51696533-51696534	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539703340	chr15:51696535-51696536	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555784523	chr15:51696570-51696571	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138697982	chr15:51696597-51696598	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138258126	chr15:51696611-51696612	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149359078	chr15:51696612-51696613	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555370946	chr15:51696623-51696624	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573652714	chr15:51696624-51696625	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146269128	chr15:51696625-51696626	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143485178	chr15:51696659-51696660	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147993127	chr15:51696677-51696678	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1852 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51678200-51697800	Weak transcription	Brain Anterior Caudate	brain
2	chr15:51687200-51700400	Strong transcription	Placenta	Placenta
3	chr15:51688800-51708600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr15:51689600-51707000	Weak transcription	Adipose Nuclei	Adipose
5	chr15:51691600-51696000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr15:51691600-51696600	Weak transcription	Brain Germinal Matrix	brain
7	chr15:51692200-51696600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr15:51694000-51697800	Weak transcription	Brain Angular Gyrus	brain
9	chr15:51694000-51701800	Weak transcription	Aorta	Aorta
10	chr15:51694200-51695800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr15:51694200-51695800	Enhancers	Stomach Smooth Muscle	stomach
12	chr15:51694200-51698000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr15:51694400-51696800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr15:51694600-51695800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr15:51694600-51696200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr15:51695000-51695800	Strong transcription	Brain Substantia Nigra	brain
17	chr15:51695000-51697800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr15:51695400-51696600	Genic enhancers	Brain Hippocampus Middle	brain
19	chr15:51695600-51696400	Enhancers	Brain Cingulate Gyrus	brain
20	chr15:51695600-51696800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr15:51695600-51696800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr15:51695800-51696000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr15:51695800-51696000	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr15:51695800-51696200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr15:51695800-51698000	Genic enhancers	Brain Substantia Nigra	brain
26	chr15:51696000-51696600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr15:51696000-51697800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr15:51696200-51696800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr15:51696200-51696800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:51696200-51697200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr15:51696200-51697800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr15:51696400-51706200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr15:51696600-51696800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr15:51696600-51697800	Weak transcription	Brain Hippocampus Middle	brain
35	chr15:51696600-51698800	Enhancers	Brain Germinal Matrix	brain
36	chr15:51696800-51701600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr15:51697200-51698800	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr15:51697800-51698200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr15:51697800-51698200	Enhancers	Brain Angular Gyrus	brain
40	chr15:51697800-51698200	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr15:51697800-51698400	Enhancers	Brain Anterior Caudate	brain
42	chr15:51697800-51698400	Enhancers	Brain Hippocampus Middle	brain
43	chr15:51697800-51698400	Active TSS	Stomach Smooth Muscle	stomach
44	chr15:51697800-51698600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr15:51697800-51698600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr15:51697800-51698600	Enhancers	Fetal Stomach	stomach
47	chr15:51698000-51698200	Active TSS	Fetal Brain Female	brain
48	chr15:51698000-51698400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr15:51698000-51698600	Enhancers	Brain Substantia Nigra	brain
50	chr15:51698000-51698800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links