Variant report

Variant	nsv1048493
Chromosome Location	chr11:45166054-45205695
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1328)
CpG islands
(count:1098)
Chromatin interactive
region (count:75)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1328 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:45167670-45167842	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:45168717-45169083	HepG2	liver:	n/a	n/a
3	ATF1	chr11:45168645-45168977	K562	blood:	n/a	n/a
4	ATF3	chr11:45168339-45168512	K562	blood:	n/a	n/a
5	ATF3	chr11:45168695-45168861	K562	blood:	n/a	chr11:45168842-45168851
6	ATF3	chr11:45168614-45168859	K562	blood:	n/a	chr11:45168842-45168851
7	BACH1	chr11:45168731-45169234	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCLAF1	chr11:45168582-45168978	GM12878	blood:	n/a	chr11:45168879-45168892 chr11:45168876-45168889 chr11:45168878-45168891 chr11:45168926-45168939
9	BHLHE40	chr11:45178425-45178763	HepG2	liver:	n/a	n/a
10	BHLHE40	chr11:45203037-45203052	K562	blood:	n/a	n/a
11	BHLHE40	chr11:45202348-45202626	HepG2	liver:	n/a	n/a
12	BHLHE40	chr11:45167451-45167526	K562	blood:	n/a	n/a
13	BHLHE40	chr11:45201795-45201987	HepG2	liver:	n/a	n/a
14	BHLHE40	chr11:45168651-45168966	GM12878	blood:	n/a	chr11:45168921-45168937 chr11:45168918-45168934 chr11:45168915-45168931
15	BHLHE40	chr11:45168744-45168826	K562	blood:	n/a	n/a
16	BHLHE40	chr11:45202346-45202654	K562	blood:	n/a	n/a
17	BRCA1	chr11:45204835-45204839	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr11:45198499-45198641	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr11:45167471-45168136	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr11:45168649-45169275	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr11:45168734-45169265	HepG2	liver:	n/a	n/a
22	BRCA1	chr11:45202520-45202793	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr11:45201395-45201991	Hela-S3	cervix:	n/a	n/a
24	CBX3	chr11:45168605-45168942	K562	blood:	n/a	n/a
25	CCNT2	chr11:45202342-45202846	K562	blood:	n/a	n/a
26	CCNT2	chr11:45168019-45169060	K562	blood:	n/a	n/a
27	CEBPB	chr11:45168084-45169567	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr11:45189952-45190003	HepG2	liver:	n/a	chr11:45189989-45190000 chr11:45189987-45189998
29	CEBPB	chr11:45201782-45202139	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr11:45202372-45202792	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr11:45177978-45178322	MCF-7	breast:	n/a	n/a
32	CEBPB	chr11:45200667-45201167	IMR90	lung:	n/a	n/a
33	CEBPB	chr11:45177954-45178251	MCF-7	breast:	n/a	n/a
34	CEBPB	chr11:45167137-45167436	HepG2	liver:	n/a	n/a
35	CEBPB	chr11:45167142-45167377	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPD	chr11:45168000-45168259	HepG2	liver:	n/a	n/a
37	CEBPD	chr11:45168584-45168994	HepG2	liver:	n/a	n/a
38	CHD1	chr11:45168678-45168892	GM12878	blood:	n/a	chr11:45168843-45168853
39	CHD1	chr11:45167584-45168292	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr11:45202914-45202925	HepG2	liver:	n/a	n/a
41	CHD2	chr11:45167121-45167431	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr11:45168631-45169064	K562	blood:	n/a	chr11:45168843-45168853
43	CHD2	chr11:45204602-45204748	Hela-S3	cervix:	n/a	n/a
44	CHD2	chr11:45168613-45169191	GM12878	blood:	n/a	chr11:45168843-45168853
45	CHD2	chr11:45201551-45203001	Hela-S3	cervix:	n/a	n/a
46	CHD2	chr11:45168599-45169203	H1-hESC	embryonic stem cell:	n/a	chr11:45168843-45168853
47	CHD2	chr11:45168635-45169095	HepG2	liver:	n/a	chr11:45168843-45168853
48	CHD2	chr11:45167681-45169502	Hela-S3	cervix:	n/a	chr11:45168843-45168853
49	CHD2	chr11:45168266-45168273	K562	blood:	n/a	n/a
50	CHD2	chr11:45190432-45190551	H1-hESC	embryonic stem cell:	n/a	n/a

(count:1098 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:45167805-45167855	Caco-2	colon:	n/a
2	chr11:45167419-45167469	ProgFib	skin:	n/a
3	chr11:45201741-45201791	GM06990	blood:	n/a
4	chr11:45167805-45167855	SK-N-MC	brain:	n/a
5	chr11:45167772-45167822	Hepatocyte	liver:	n/a
6	chr11:45167493-45167543	HRPEpiC	eye:	n/a
7	chr11:45204466-45204516	GM12892	blood:	n/a
8	chr11:45167368-45167418	HL-60	blood:	n/a
9	chr11:45167702-45167752	HRCEpiC	kidney:	n/a
10	chr11:45167368-45167418	GM12878	blood:	n/a
11	chr11:45167493-45167543	HCPEpiC	choroid plexus:	n/a
12	chr11:45167419-45167469	T-47D	breast:	n/a
13	chr11:45169082-45169132	ovcar-3	ovarian:	n/a
14	chr11:45202135-45202185	LNCaP	prostate:	n/a
15	chr11:45202557-45202607	A549	lung:	n/a
16	chr11:45204466-45204516	GM12878	blood:	n/a
17	chr11:45167805-45167855	BJ	skin:	n/a
18	chr11:45167419-45167469	CMK	blood:	n/a
19	chr11:45167772-45167822	AG04450	lung:	fetal
20	chr11:45171428-45171478	HCF	heart:	n/a
21	chr11:45167493-45167543	HRCEpiC	kidney:	n/a
22	chr11:45202557-45202607	NHDF-neo	bronchial:	n/a
23	chr11:45167805-45167855	SAEC	small airway:	n/a
24	chr11:45167493-45167543	AoSMC	blood vessel:	n/a
25	chr11:45167368-45167418	HepG2	liver:	n/a
26	chr11:45169082-45169132	HRE	kidney:	n/a
27	chr11:45201741-45201791	AG09319	gingival:	n/a
28	chr11:45202135-45202185	AG10803	skin:	n/a
29	chr11:45167805-45167855	A549	lung:	n/a
30	chr11:45169082-45169132	AG04449	skin:	fetal
31	chr11:45166384-45166434	T-47D	breast:	n/a
32	chr11:45202557-45202607	AG04450	lung:	fetal
33	chr11:45167772-45167822	HCM	heart:	n/a
34	chr11:45202557-45202607	NH-A	brain:	n/a
35	chr11:45167419-45167469	LNCaP	prostate:	n/a
36	chr11:45201741-45201791	IMR90	lung:	fetal
37	chr11:45204466-45204516	NB4	blood:	n/a
38	chr11:45167772-45167822	PFSK-1	brain:	n/a
39	chr11:45201855-45201905	U87	brain:	n/a
40	chr11:45204843-45204893	HNPCEpiC	eye:	n/a
41	chr11:45167702-45167752	AG04450	lung:	fetal
42	chr11:45199222-45199272	NHBE	bronchial:	n/a
43	chr11:45171428-45171478	PFSK-1	brain:	n/a
44	chr11:45167368-45167418	AG09309	skin:	n/a
45	chr11:45167772-45167822	ECC-1	luminal epithelium:	n/a
46	chr11:45167772-45167822	AG09309	skin:	n/a
47	chr11:45202135-45202185	HepG2	liver:	n/a
48	chr11:45204843-45204893	AG10803	skin:	n/a
49	chr11:45171428-45171478	HAEpiC	amniotic membrane:	n/a
50	chr11:45169082-45169132	RPTEC	kidney:	n/a

(count:75 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:45179374..45181360-chr11:45184809..45187751,2	K562	blood:
2	chr11:45201395..45201910-chr11:45314825..45315380,2	MCF-7	breast:
3	chr11:45164160..45171283-chr11:45198764..45207868,26	MCF-7	breast:
4	chr11:45188977..45190924-chr17:57920885..57923091,2	MCF-7	breast:
5	chr11:45167324..45169317-chr11:45187434..45189028,2	MCF-7	breast:
6	chr11:45192972..45194599-chr11:45201172..45203381,2	MCF-7	breast:
7	chr11:45201835..45202455-chr17:27620880..27621538,2	Hela-S3	cervix:
8	chr11:45166402..45169959-chr11:45170699..45175813,6	MCF-7	breast:
9	chr11:45193686..45196052-chr11:45198891..45200886,2	MCF-7	breast:
10	chr11:45201511..45203799-chr11:45256779..45259525,2	MCF-7	breast:
11	chr11:45166948..45170773-chr11:45176737..45181280,4	K562	blood:
12	chr11:45176255..45180138-chr11:45180420..45184771,5	MCF-7	breast:
13	chr11:45196994..45199471-chr11:45201318..45203676,2	K562	blood:
14	chr11:45197003..45199885-chr11:45200062..45203295,4	MCF-7	breast:
15	chr11:45164160..45171283-chr11:45198764..45207868,26	MCF-7	breast:
16	chr11:45167789..45170487-chr11:45182645..45184245,2	K562	blood:
17	chr11:45193686..45196052-chr11:45198891..45200886,2	MCF-7	breast:
18	chr11:45176255..45180138-chr11:45180420..45184771,5	MCF-7	breast:
19	chr1:45186974..45187599-chr11:45201244..45201899,2	Hela-S3	cervix:
20	chr11:45167893..45171206-chr11:45200303..45204446,5	MCF-7	breast:
21	chr1:45805524..45806078-chr11:45202033..45202587,2	Hela-S3	cervix:
22	chr11:45178718..45181474-chr11:45186088..45187942,2	K562	blood:
23	chr11:45167998..45168767-chr5:56205154..56205766,2	Hela-S3	cervix:
24	chr11:45175178..45177497-chr11:45190478..45192901,2	MCF-7	breast:
25	chr11:45176125..45178660-chr11:45202397..45204482,2	MCF-7	breast:
26	chr11:45165135..45167115-chr11:45369738..45371244,2	MCF-7	breast:
27	chr11:44940135..44943122-chr11:45165602..45168415,2	MCF-7	breast:
28	chr10:70747303..70749893-chr11:45167896..45169684,2	MCF-7	breast:
29	chr11:45173610..45176134-chr11:45184836..45187202,2	K562	blood:
30	chr11:45198038..45200722-chr11:45201190..45202692,2	MCF-7	breast:
31	chr11:45179374..45181360-chr11:45184809..45187751,2	K562	blood:
32	chr11:45184640..45186467-chr11:45245800..45248700,2	MCF-7	breast:
33	chr11:45198038..45200722-chr11:45201190..45202692,2	MCF-7	breast:
34	chr11:45173226..45176543-chr11:45176880..45179156,4	K562	blood:
35	chr11:45167891..45170733-chr11:45184381..45188024,4	K562	blood:
36	chr11:45175116..45179672-chr11:45200428..45203177,5	MCF-7	breast:
37	chr11:45202128..45202855-chr20:42839088..42839664,2	Hela-S3	cervix:
38	chr11:45192972..45194599-chr11:45201172..45203381,2	MCF-7	breast:
39	chr11:45176699..45178353-chr11:45180660..45182490,2	K562	blood:
40	chr11:45167645..45169641-chr11:45170241..45173572,4	K562	blood:
41	chr11:45204656..45205178-chr11:45353681..45354216,2	MCF-7	breast:
42	chr11:45197003..45199885-chr11:45200062..45203295,4	MCF-7	breast:
43	chr11:45167440..45169930-chr11:45202656..45204248,2	K562	blood:
44	chr11:45184562..45186695-chr11:45200479..45203077,3	MCF-7	breast:
45	chr11:45167893..45171206-chr11:45200303..45204446,5	MCF-7	breast:
46	chr11:45168582..45169343-chr6:26157874..26158814,2	HCT-116	colon:
47	chr11:45184515..45187339-chr11:45200209..45203185,3	MCF-7	breast:
48	chr11:45173226..45176543-chr11:45176880..45179156,4	K562	blood:
49	chr11:45167650..45170338-chr11:45189685..45192446,3	MCF-7	breast:
50	chr11:45167337..45170227-chr11:45194367..45197108,2	MCF-7	breast:

No data

Variant related genes	Relation type
PRDM11	TF binding region
PRDM11	CpG island
ENSG00000132781	chromatin interactions
ENSG00000158050	chromatin interactions
ENSG00000019485	chromatin interactions
ENSG00000198954	chromatin interactions
ENSG00000254664	chromatin interactions
ENSG00000155542	chromatin interactions
ENSG00000175274	chromatin interactions
ENSG00000132823	chromatin interactions
ENSG00000132773	chromatin interactions
ENSG00000108256	chromatin interactions
ENSG00000203684	chromatin interactions
ENSG00000111669	chromatin interactions
ENSG00000157570	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000199377	chromatin interactions
ENSG00000090432	chromatin interactions
ENSG00000223891	chromatin interactions

Extended variants
information (count: 1457 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1457 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144876603	chr11:45166064-45166065	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs111792058	chr11:45166076-45166077	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs540290657	chr11:45166121-45166122	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs185890889	chr11:45166130-45166131	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs560587826	chr11:45166138-45166139	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs138785258	chr11:45166156-45166157	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs375808547	chr11:45166165-45166166	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs7110545	chr11:45166208-45166209	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs569451690	chr11:45166210-45166211	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs555190807	chr11:45166275-45166276	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs568778378	chr11:45166350-45166351	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs531975133	chr11:45166358-45166359	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs140396223	chr11:45166360-45166361	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs539098881	chr11:45166375-45166376	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs568680480	chr11:45166387-45166388	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs111314369	chr11:45166427-45166428	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs373611293	chr11:45166476-45166477	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs536196296	chr11:45166480-45166481	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs368072446	chr11:45166548-45166549	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs371837854	chr11:45166571-45166572	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs61089398	chr11:45166595-45166596	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs566501066	chr11:45166624-45166625	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs538355598	chr11:45166637-45166638	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs190724713	chr11:45166650-45166651	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs113601695	chr11:45166654-45166655	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs375168362	chr11:45166705-45166706	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs558262618	chr11:45166736-45166737	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs573633474	chr11:45166860-45166861	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs368686610	chr11:45166874-45166875	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs531489280	chr11:45166951-45166952	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs575081566	chr11:45166973-45166974	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs58855121	chr11:45166981-45166982	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs554416904	chr11:45166985-45166986	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs540633056	chr11:45167020-45167021	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs368702917	chr11:45167025-45167026	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs540580375	chr11:45167056-45167057	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs560277398	chr11:45167073-45167074	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs150286908	chr11:45167105-45167106	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs137922697	chr11:45167206-45167207	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs548109668	chr11:45167231-45167232	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs181929718	chr11:45167275-45167276	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs536640787	chr11:45167285-45167286	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs548801259	chr11:45167300-45167301	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs75042941	chr11:45167318-45167319	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs372423842	chr11:45167346-45167347	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs527966236	chr11:45167356-45167357	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs149476854	chr11:45167383-45167384	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs566325088	chr11:45167417-45167418	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs34938781	chr11:45167444-45167445	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs147174004	chr11:45167448-45167449	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2009 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45164200-45167000	Weak transcription	Right Atrium	heart
2	chr11:45164400-45167000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr11:45166200-45167000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:45166600-45166800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
5	chr11:45166600-45166800	Enhancers	Brain Hippocampus Middle	brain
6	chr11:45166800-45167000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:45166800-45167000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:45166800-45167000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:45166800-45167000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:45166800-45167000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr11:45166800-45167000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:45166800-45167000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:45166800-45167000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:45166800-45167000	Active TSS	Brain Anterior Caudate	brain
15	chr11:45166800-45167000	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr11:45166800-45167000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr11:45166800-45167000	Bivalent Enhancer	Fetal Lung	lung
18	chr11:45166800-45167200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr11:45166800-45167200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
20	chr11:45166800-45167200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:45166800-45167200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr11:45166800-45167200	Bivalent Enhancer	Primary T cells from cord blood	blood
23	chr11:45166800-45167200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:45166800-45167200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
25	chr11:45166800-45167200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:45166800-45167200	Bivalent Enhancer	Fetal Brain Female	brain
27	chr11:45166800-45167200	Enhancers	Fetal Intestine Small	intestine
28	chr11:45166800-45167200	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr11:45166800-45167400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:45166800-45167400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
31	chr11:45166800-45167400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
32	chr11:45166800-45167400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:45166800-45167400	Bivalent Enhancer	Brain Germinal Matrix	brain
34	chr11:45166800-45167400	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr11:45166800-45167400	Bivalent Enhancer	Placenta	Placenta
36	chr11:45166800-45167400	Bivalent Enhancer	Fetal Stomach	stomach
37	chr11:45166800-45167400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
38	chr11:45166800-45167600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
39	chr11:45166800-45167600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
40	chr11:45166800-45167600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
41	chr11:45166800-45167800	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr11:45166800-45168200	Enhancers	Spleen	Spleen
43	chr11:45166800-45169600	Active TSS	H9 Cell Line	embryonic stem cell
44	chr11:45167000-45167200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:45167000-45167200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:45167000-45167200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:45167000-45167200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:45167000-45167200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr11:45167000-45167200	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:45167000-45167200	Bivalent Enhancer	Primary hematopoietic stem cells	blood

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