Variant report

Variant	esv2830011
Chromosome Location	chr15:52027777-52048710
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:713)
CpG islands
(count:1956)
Chromatin interactive
region (count:46)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:713 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr15:52030198-52030789	K562	blood:	n/a	n/a
2	ATF2	chr15:52028196-52028741	GM12878	blood:	n/a	n/a
3	ATF3	chr15:52043612-52043887	K562	blood:	n/a	chr15:52043854-52043868
4	BACH1	chr15:52043336-52043612	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr15:52043120-52043388	K562	blood:	n/a	n/a
6	BACH1	chr15:52029717-52029835	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chr15:52028233-52028654	GM12878	blood:	n/a	chr15:52028448-52028459
8	BATF	chr15:52028341-52028612	GM12878	blood:	n/a	chr15:52028448-52028459
9	BCL11A	chr15:52028263-52028604	GM12878	blood:	n/a	n/a
10	BCL11A	chr15:52028309-52028583	GM12878	blood:	n/a	n/a
11	BCL3	chr15:52028271-52028680	GM12878	blood:	n/a	n/a
12	BCLAF1	chr15:52028889-52029353	GM12878	blood:	n/a	chr15:52029025-52029034
13	BHLHE40	chr15:52028036-52028081	K562	blood:	n/a	n/a
14	BHLHE40	chr15:52029000-52029713	K562	blood:	n/a	chr15:52029489-52029505 chr15:52029365-52029381
15	BHLHE40	chr15:52044227-52044396	K562	blood:	n/a	n/a
16	BHLHE40	chr15:52042414-52042608	GM12878	blood:	n/a	n/a
17	BHLHE40	chr15:52043552-52043743	K562	blood:	n/a	n/a
18	BHLHE40	chr15:52029786-52030120	GM12878	blood:	n/a	chr15:52030058-52030074 chr15:52030064-52030080
19	BHLHE40	chr15:52031361-52031500	K562	blood:	n/a	n/a
20	BHLHE40	chr15:52028370-52029413	GM12878	blood:	n/a	chr15:52029365-52029381
21	BHLHE40	chr15:52029161-52029337	A549	lung:	n/a	n/a
22	BRCA1	chr15:52030225-52030482	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr15:52028945-52029266	Hela-S3	cervix:	n/a	n/a
24	CBX3	chr15:52029005-52029373	K562	blood:	n/a	n/a
25	CCNT2	chr15:52029073-52030235	K562	blood:	n/a	n/a
26	CCNT2	chr15:52043603-52044305	K562	blood:	n/a	chr15:52043685-52043694
27	CEBPB	chr15:52032868-52032917	A549	lung:	n/a	n/a
28	CEBPB	chr15:52029067-52029071	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr15:52028281-52028521	K562	blood:	n/a	n/a
30	CEBPB	chr15:52045442-52045741	K562	blood:	n/a	n/a
31	CEBPB	chr15:52039879-52040100	A549	lung:	n/a	chr15:52039944-52039955
32	CEBPB	chr15:52030188-52030365	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr15:52039828-52040097	HepG2	liver:	n/a	chr15:52039944-52039955
34	CEBPB	chr15:52039854-52040070	IMR90	lung:	n/a	chr15:52039944-52039955
35	CEBPB	chr15:52028941-52029323	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr15:52030326-52030401	K562	blood:	n/a	n/a
37	CEBPB	chr15:52048597-52049045	K562	blood:	n/a	n/a
38	CEBPB	chr15:52032849-52032986	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr15:52034406-52034636	K562	blood:	n/a	n/a
40	CEBPB	chr15:52031979-52032145	K562	blood:	n/a	n/a
41	CEBPB	chr15:52032769-52032973	K562	blood:	n/a	n/a
42	CEBPB	chr15:52039922-52039966	Hela-S3	cervix:	n/a	chr15:52039944-52039955
43	CEBPB	chr15:52034382-52034545	HepG2	liver:	n/a	n/a
44	CEBPB	chr15:52028249-52028567	IMR90	lung:	n/a	n/a
45	CEBPB	chr15:52039818-52040105	K562	blood:	n/a	chr15:52039944-52039955
46	CHD1	chr15:52029671-52029855	GM12878	blood:	n/a	n/a
47	CHD2	chr15:52028927-52030475	GM12878	blood:	n/a	n/a
48	CHD2	chr15:52029090-52029534	K562	blood:	n/a	n/a
49	CHD2	chr15:52043543-52043937	K562	blood:	n/a	n/a
50	CHD2	chr15:52029998-52030373	K562	blood:	n/a	n/a

(count:1956 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:52043258-52043308	NHDF-neo	bronchial:	n/a
2	chr15:52030641-52030691	MCF-7	breast:	n/a
3	chr15:52043708-52043758	AoSMC	blood vessel:	n/a
4	chr15:52043507-52043557	K562	blood:	n/a
5	chr15:52043258-52043308	NHDF-neo	bronchial:	n/a
6	chr15:52030641-52030691	MCF-7	breast:	n/a
7	chr15:52043708-52043758	AoSMC	blood vessel:	n/a
8	chr15:52043507-52043557	K562	blood:	n/a
9	chr15:52043568-52043618	AG09319	gingival:	n/a
10	chr15:52043657-52043707	Caco-2	colon:	n/a
11	chr15:52043674-52043724	HNPCEpiC	eye:	n/a
12	chr15:52043805-52043855	GM12891	blood:	n/a
13	chr15:52043731-52043781	HNPCEpiC	eye:	n/a
14	chr15:52043572-52043622	HUVEC	blood vessel:	n/a
15	chr15:52043951-52044001	MCF-7	breast:	n/a
16	chr15:52030001-52030051	HCPEpiC	choroid plexus:	n/a
17	chr15:52029533-52029583	GM12878	blood:	n/a
18	chr15:52044314-52044364	HRPEpiC	eye:	n/a
19	chr15:52043708-52043758	SKMC	muscle:	n/a
20	chr15:52033455-52033505	HCF	heart:	n/a
21	chr15:52048211-52048261	HCF	heart:	n/a
22	chr15:52043258-52043308	MCF-7	breast:	n/a
23	chr15:52031467-52031517	HEK293	kidney:	embryo
24	chr15:52043572-52043622	NHDF-neo	bronchial:	n/a
25	chr15:52043572-52043622	GM06990	blood:	n/a
26	chr15:52030641-52030691	HCF	heart:	n/a
27	chr15:52043553-52043603	ECC-1	luminal epithelium:	n/a
28	chr15:52043507-52043557	ovcar-3	ovarian:	n/a
29	chr15:52029533-52029583	Hela-S3	cervix:	n/a
30	chr15:52030199-52030249	Jurkat	blood:	n/a
31	chr15:52043684-52043734	HCM	heart:	n/a
32	chr15:52033455-52033505	HEK293	kidney:	embryo
33	chr15:52030128-52030178	AG04450	lung:	fetal
34	chr15:52043568-52043618	NB4	blood:	n/a
35	chr15:52029231-52029281	HAEpiC	amniotic membrane:	n/a
36	chr15:52030746-52030796	PrEC	prostate:	n/a
37	chr15:52043708-52043758	AG09319	gingival:	n/a
38	chr15:52040296-52040346	SK-N-SH_RA	brain:	n/a
39	chr15:52030641-52030691	BE2_C	brain:	n/a
40	chr15:52043951-52044001	H1-hESC	embryonic stem cell:	embryo
41	chr15:52043486-52043536	LNCaP	prostate:	n/a
42	chr15:52043731-52043781	T-47D	breast:	n/a
43	chr15:52030001-52030051	Hepatocyte	liver:	n/a
44	chr15:52030128-52030178	HRPEpiC	eye:	n/a
45	chr15:52043674-52043724	AG09309	skin:	n/a
46	chr15:52029231-52029281	U87	brain:	n/a
47	chr15:52029533-52029583	SK-N-SH	brain:	n/a
48	chr15:52043486-52043536	RPTEC	kidney:	n/a
49	chr15:52043568-52043618	GM12892	blood:	n/a
50	chr15:52043731-52043781	HRCEpiC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr15:52028355..52032748-chr15:52040539..52046492,10	K562	blood:
2	chr15:51914058..51915723-chr15:52028393..52030272,2	MCF-7	breast:
3	chr15:52026672..52029372-chr15:52056834..52058990,2	MCF-7	breast:
4	chr12:64614231..64616104-chr15:52029344..52031052,2	MCF-7	breast:
5	chr15:52026416..52029376-chr15:52033345..52036135,2	K562	blood:
6	chr15:52033609..52037215-chr15:52040115..52042966,3	MCF-7	breast:
7	chr15:52026416..52029376-chr15:52033345..52036135,2	K562	blood:
8	chr15:52029378..52032499-chr15:52121077..52123299,3	MCF-7	breast:
9	chr15:52032888..52035475-chr15:52037626..52040413,3	K562	blood:
10	chr15:52028579..52031295-chr15:52046217..52050933,5	MCF-7	breast:
11	chr15:52030561..52031125-chr15:52068898..52069830,2	K562	blood:
12	chr15:52033609..52037215-chr15:52040115..52042966,3	MCF-7	breast:
13	chr15:52030420..52032691-chr15:52120807..52123246,2	MCF-7	breast:
14	chr15:52028355..52032748-chr15:52040539..52046492,10	K562	blood:
15	chr15:52029435..52031649-chr15:52311154..52313570,2	K562	blood:
16	chr15:51911576..51916583-chr15:52027382..52031699,5	MCF-7	breast:
17	chr15:51913765..51915437-chr15:52031923..52034915,2	MCF-7	breast:
18	chr15:52028180..52031136-chr15:52040562..52045385,6	MCF-7	breast:
19	chr15:52028100..52031772-chr15:52032552..52038946,7	MCF-7	breast:
20	chr15:52027363..52032665-chr15:52041435..52046045,23	MCF-7	breast:
21	chr15:51913469..51917109-chr15:52042794..52045514,3	MCF-7	breast:
22	chr15:52042908..52046919-chr15:52047131..52052382,6	MCF-7	breast:
23	chr15:52035703..52038997-chr15:52042276..52046754,4	MCF-7	breast:
24	chr15:52042996..52044811-chr15:52120947..52123164,2	MCF-7	breast:
25	chr15:51941822..51942724-chr15:52027267..52028353,3	MCF-7	breast:
26	chr15:52029591..52032408-chr15:52042418..52044684,3	K562	blood:
27	chr15:52032888..52035475-chr15:52037626..52040413,3	K562	blood:
28	chr15:52047517..52051526-chr15:52055116..52057120,3	K562	blood:
29	chr15:52035146..52037140-chr15:52056300..52058053,2	MCF-7	breast:
30	chr15:52029591..52032408-chr15:52042418..52044684,3	K562	blood:
31	chr15:52041956..52043686-chr15:52074164..52076601,2	MCF-7	breast:
32	chr15:52040526..52042479-chr15:52043907..52045624,2	MCF-7	breast:
33	chr15:52043733..52046292-chr15:52047210..52050045,3	MCF-7	breast:
34	chr15:51762002..51764362-chr15:52028309..52030001,2	MCF-7	breast:
35	chr15:51932350..51934413-chr15:52040537..52042098,2	MCF-7	breast:
36	chr15:51950953..51953753-chr15:52026333..52028408,2	MCF-7	breast:
37	chr15:52046348..52048954-chr15:52084849..52087226,2	K562	blood:
38	chr15:52043149..52046754-chr15:52046824..52050469,4	K562	blood:
39	chr15:52028203..52034388-chr15:52036095..52042039,7	K562	blood:
40	chr15:52005662..52007756-chr15:52028876..52031424,2	MCF-7	breast:
41	chr15:52028180..52031136-chr15:52040562..52045385,6	MCF-7	breast:
42	chr15:51997400..52000250-chr15:52046573..52049240,2	MCF-7	breast:
43	chr15:52027363..52032665-chr15:52041435..52046045,23	MCF-7	breast:
44	chr15:52016515..52018648-chr15:52040542..52043046,2	MCF-7	breast:
45	chr15:52027911..52030761-chr15:52046678..52049036,2	K562	blood:
46	chr15:52018406..52020693-chr15:52046360..52048618,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SCG3-1	chr15:52048510-52048672	ENSG00000259377.1
2	lnc-SCG3-1	chr15:52044682-52045099	ENSG00000259377.1

No data

Variant related genes	Relation type
ENSG00000259377	TF binding region
TMOD2	TF binding region
LYSMD2	TF binding region
ENSG00000259377	CpG island
TMOD2	CpG island
LYSMD2	CpG island
ENSG00000128872	chromatin interactions
ENSG00000069956	chromatin interactions
ENSG00000259377	chromatin interactions
ENSG00000138594	chromatin interactions
ENSG00000259296	chromatin interactions
ENSG00000259438	chromatin interactions
ENSG00000104093	chromatin interactions
ENSG00000140280	chromatin interactions
ENSG00000174206	chromatin interactions

Extended variants
information (count: 740 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:740 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2077743	chr15:52027777-52027778	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561166224	chr15:52027822-52027823	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs576130389	chr15:52027872-52027873	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs543329915	chr15:52027884-52027885	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs564798710	chr15:52027885-52027886	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs142281147	chr15:52027913-52027914	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs143105946	chr15:52027963-52027964	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs114826053	chr15:52027975-52027976	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs529829246	chr15:52027989-52027990	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs77246593	chr15:52028018-52028019	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs546322917	chr15:52028026-52028027	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs148258204	chr15:52028044-52028045	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs538020023	chr15:52028054-52028055	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs550504777	chr15:52028119-52028120	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs571922496	chr15:52028126-52028127	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs539332160	chr15:52028156-52028157	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs28418531	chr15:52028235-52028236	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs74015725	chr15:52028240-52028241	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs561812280	chr15:52028258-52028259	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs535013451	chr15:52028329-52028330	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs572328378	chr15:52028402-52028403	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs558098249	chr15:52028434-52028435	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs192338594	chr15:52028463-52028464	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs537450940	chr15:52028488-52028489	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs576198197	chr15:52028515-52028516	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs543168596	chr15:52028518-52028519	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs558330387	chr15:52028550-52028551	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs576765518	chr15:52028552-52028553	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs540909553	chr15:52028564-52028565	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs559325449	chr15:52028593-52028594	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs529627980	chr15:52028612-52028613	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs541923120	chr15:52028630-52028631	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs184507846	chr15:52028631-52028632	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs28673300	chr15:52028664-52028665	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs531944318	chr15:52028681-52028682	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs577976224	chr15:52028688-52028689	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs374553999	chr15:52028697-52028698	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs79846015	chr15:52028708-52028709	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs150332493	chr15:52028712-52028713	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs189514077	chr15:52028720-52028721	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs566082527	chr15:52028721-52028722	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs137871916	chr15:52028794-52028795	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs181777405	chr15:52028819-52028820	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs11636142	chr15:52028827-52028828	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs570100516	chr15:52028830-52028831	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs537141311	chr15:52028841-52028842	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs200169999	chr15:52028850-52028851	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs186050137	chr15:52028875-52028876	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs7165585	chr15:52028914-52028915	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs189584302	chr15:52028918-52028919	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Ovarian clear cell carcinoma	21343371	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:1232 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52013600-52028200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr15:52013600-52028400	Weak transcription	Fetal Brain Female	brain
3	chr15:52013600-52028800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr15:52019000-52028200	Weak transcription	Brain Substantia Nigra	brain
5	chr15:52020000-52028800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:52020200-52028000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr15:52020200-52029000	Weak transcription	NH-A	brain
8	chr15:52020400-52028000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr15:52023600-52028200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr15:52024200-52028000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr15:52024200-52028000	Weak transcription	Hela-S3	cervix
12	chr15:52024200-52028400	Flanking Active TSS	GM12878-XiMat	blood
13	chr15:52024400-52027800	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr15:52024400-52027800	Enhancers	Brain Anterior Caudate	brain
15	chr15:52024400-52028000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:52024400-52028400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr15:52024400-52028400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr15:52024400-52028400	Enhancers	Fetal Thymus	thymus
19	chr15:52024400-52028400	Enhancers	Thymus	Thymus
20	chr15:52024400-52028800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr15:52024400-52028800	Weak transcription	Right Ventricle	heart
22	chr15:52024600-52027800	Enhancers	Primary hematopoietic stem cells	blood
23	chr15:52024600-52027800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr15:52024600-52027800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr15:52024600-52028000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr15:52024600-52028000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr15:52024600-52028200	Enhancers	Primary T cells fromperipheralblood	blood
28	chr15:52024600-52028200	Weak transcription	NHDF-Ad	bronchial
29	chr15:52024600-52028200	Weak transcription	NHLF	lung
30	chr15:52024600-52028400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr15:52024600-52028400	Weak transcription	Aorta	Aorta
32	chr15:52024600-52028400	Weak transcription	Fetal Muscle Leg	muscle
33	chr15:52024600-52028400	Weak transcription	Gastric	stomach
34	chr15:52024600-52028400	Weak transcription	NHEK	skin
35	chr15:52024600-52028600	Weak transcription	Fetal Stomach	stomach
36	chr15:52024600-52028800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr15:52024600-52028800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr15:52024600-52028800	Weak transcription	Osteobl	bone
39	chr15:52024600-52029000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr15:52024800-52027800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr15:52024800-52028000	Weak transcription	Fetal Intestine Small	intestine
42	chr15:52024800-52028000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr15:52024800-52028200	Weak transcription	Adipose Nuclei	Adipose
44	chr15:52024800-52028400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr15:52024800-52028400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr15:52024800-52028400	Weak transcription	Fetal Intestine Large	intestine
47	chr15:52024800-52028400	Weak transcription	Placenta	Placenta
48	chr15:52024800-52028400	Weak transcription	Stomach Mucosa	stomach
49	chr15:52025000-52028000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr15:52025000-52028200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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