Variant report

Variant	nsv587686
Chromosome Location	chr21:44848070-44871189
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1092)
CpG islands
(count:1222)
Chromatin interactive
region (count:98)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1092 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:44859226-44859868	HepG2	liver:	n/a	n/a
2	ARID3A	chr21:44860645-44861351	HepG2	liver:	n/a	n/a
3	ATF2	chr21:44853247-44853969	GM12878	blood:	n/a	n/a
4	ATF3	chr21:44860603-44861562	A549	lung:	n/a	chr21:44860942-44860952 chr21:44860939-44860952
5	ATF3	chr21:44866239-44866536	K562	blood:	n/a	chr21:44866342-44866362 chr21:44866430-44866440 chr21:44866427-44866440 chr21:44866428-44866439 chr21:44866428-44866439
6	ATF3	chr21:44860618-44861375	A549	lung:	n/a	chr21:44860942-44860952 chr21:44860939-44860952
7	ATF3	chr21:44866146-44866579	A549	lung:	n/a	chr21:44866342-44866362 chr21:44866430-44866440 chr21:44866427-44866440 chr21:44866428-44866439 chr21:44866428-44866439
8	BATF	chr21:44853339-44853730	GM12878	blood:	n/a	n/a
9	BATF	chr21:44853200-44853750	GM12878	blood:	n/a	n/a
10	BCL11A	chr21:44853402-44853700	GM12878	blood:	n/a	n/a
11	BCL3	chr21:44860227-44861862	A549	lung:	n/a	chr21:44861341-44861350
12	BCL3	chr21:44847923-44848483	A549	lung:	n/a	n/a
13	BCL3	chr21:44860749-44861049	GM12878	blood:	n/a	n/a
14	BCL3	chr21:44860286-44861960	A549	lung:	n/a	chr21:44861341-44861350
15	BCL3	chr21:44865993-44866658	A549	lung:	n/a	chr21:44866357-44866370 chr21:44866073-44866086
16	BCL3	chr21:44866162-44866690	A549	lung:	n/a	chr21:44866357-44866370
17	BCL3	chr21:44847949-44848442	A549	lung:	n/a	n/a
18	BCLAF1	chr21:44850550-44850993	GM12878	blood:	n/a	chr21:44850676-44850685 chr21:44850714-44850723
19	BCLAF1	chr21:44853279-44853707	GM12878	blood:	n/a	n/a
20	BHLHE40	chr21:44866170-44866710	K562	blood:	n/a	n/a
21	BHLHE40	chr21:44850191-44850912	GM12878	blood:	n/a	n/a
22	BHLHE40	chr21:44850285-44850471	K562	blood:	n/a	n/a
23	BHLHE40	chr21:44860774-44861436	HepG2	liver:	n/a	n/a
24	BHLHE40	chr21:44853277-44853773	GM12878	blood:	n/a	n/a
25	BHLHE40	chr21:44851068-44851150	HepG2	liver:	n/a	n/a
26	BHLHE40	chr21:44866231-44866573	A549	lung:	n/a	n/a
27	BHLHE40	chr21:44851146-44851193	GM12878	blood:	n/a	n/a
28	BRCA1	chr21:44865641-44866835	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr21:44865254-44865346	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr21:44860375-44862011	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr21:44859315-44859778	Hela-S3	cervix:	n/a	n/a
32	CBX3	chr21:44866403-44866797	K562	blood:	n/a	n/a
33	CBX3	chr21:44867456-44867874	K562	blood:	n/a	n/a
34	CBX3	chr21:44867493-44867804	K562	blood:	n/a	n/a
35	CCNT2	chr21:44870986-44871035	K562	blood:	n/a	n/a
36	CCNT2	chr21:44866351-44866672	K562	blood:	n/a	chr21:44866402-44866411
37	CEBPB	chr21:44848067-44848307	K562	blood:	n/a	chr21:44848189-44848200
38	CEBPB	chr21:44859351-44859652	HepG2	liver:	n/a	n/a
39	CEBPB	chr21:44860363-44861576	A549	lung:	n/a	chr21:44861022-44861033 chr21:44861021-44861032 chr21:44861023-44861032
40	CEBPB	chr21:44848743-44849248	MCF-7	breast:	n/a	chr21:44848939-44848951
41	CEBPB	chr21:44860743-44861270	HepG2	liver:	n/a	chr21:44861022-44861033 chr21:44861021-44861032 chr21:44861023-44861032
42	CEBPB	chr21:44848094-44848287	H1-hESC	embryonic stem cell:	n/a	chr21:44848189-44848200
43	CEBPB	chr21:44862609-44862776	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr21:44848002-44848378	A549	lung:	n/a	chr21:44848189-44848200
45	CEBPB	chr21:44861917-44862067	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr21:44860856-44861200	K562	blood:	n/a	chr21:44861022-44861033 chr21:44861021-44861032 chr21:44861023-44861032
47	CEBPB	chr21:44848885-44849078	HepG2	liver:	n/a	chr21:44848939-44848951
48	CEBPB	chr21:44847914-44848394	Hela-S3	cervix:	n/a	chr21:44848189-44848200
49	CEBPB	chr21:44848883-44849023	A549	lung:	n/a	chr21:44848939-44848951
50	CEBPB	chr21:44860918-44861158	K562	blood:	n/a	chr21:44861022-44861033 chr21:44861021-44861032 chr21:44861023-44861032

(count:1222 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:44869862-44869912	GM12878	blood:	n/a
2	chr21:44864004-44864054	LNCaP	prostate:	n/a
3	chr21:44869862-44869912	GM12878	blood:	n/a
4	chr21:44864004-44864054	LNCaP	prostate:	n/a
5	chr21:44869862-44869912	HPAEpiC	pulmonary alveolar:	n/a
6	chr21:44870270-44870320	SK-N-SH_RA	brain:	n/a
7	chr21:44870270-44870320	HRPEpiC	eye:	n/a
8	chr21:44870270-44870320	HL-60	blood:	n/a
9	chr21:44864004-44864054	GM19239	blood:	n/a
10	chr21:44863962-44864012	ECC-1	luminal epithelium:	n/a
11	chr21:44865764-44865814	AG09309	skin:	n/a
12	chr21:44868906-44868956	H1-hESC	embryonic stem cell:	embryo
13	chr21:44853470-44853520	Caco-2	colon:	n/a
14	chr21:44869762-44869812	PrEC	prostate:	n/a
15	chr21:44863611-44863661	HUVEC	blood vessel:	n/a
16	chr21:44867263-44867313	HCF	heart:	n/a
17	chr21:44869785-44869835	Hepatocyte	liver:	n/a
18	chr21:44865764-44865814	HUVEC	blood vessel:	n/a
19	chr21:44868948-44868998	AG09319	gingival:	n/a
20	chr21:44864004-44864054	HCT-116	colon:	n/a
21	chr21:44864361-44864411	PANC-1	pancreas:	n/a
22	chr21:44869762-44869812	HRCEpiC	kidney:	n/a
23	chr21:44864361-44864411	HRCEpiC	kidney:	n/a
24	chr21:44870270-44870320	MCF10A-Er-Src	breast:	n/a
25	chr21:44864004-44864054	HepG2	liver:	n/a
26	chr21:44853470-44853520	LNCaP	prostate:	n/a
27	chr21:44868948-44868998	HEEpiC	esophagus:	n/a
28	chr21:44861617-44861667	RPTEC	kidney:	n/a
29	chr21:44869862-44869912	PANC-1	pancreas:	n/a
30	chr21:44868948-44868998	HNPCEpiC	eye:	n/a
31	chr21:44853470-44853520	GM12891	blood:	n/a
32	chr21:44864004-44864054	HCPEpiC	choroid plexus:	n/a
33	chr21:44863611-44863661	NHDF-neo	bronchial:	n/a
34	chr21:44867263-44867313	ProgFib	skin:	n/a
35	chr21:44868948-44868998	HUVEC	blood vessel:	n/a
36	chr21:44851244-44851294	BE2_C	brain:	n/a
37	chr21:44851244-44851294	U87	brain:	n/a
38	chr21:44868948-44868998	SKMC	muscle:	n/a
39	chr21:44869862-44869912	HIPEpiC	eye:	n/a
40	chr21:44869862-44869912	SKMC	muscle:	n/a
41	chr21:44862425-44862475	T-47D	breast:	n/a
42	chr21:44869682-44869732	U87	brain:	n/a
43	chr21:44865764-44865814	SK-N-SH_RA	brain:	n/a
44	chr21:44862425-44862475	K562	blood:	n/a
45	chr21:44861617-44861667	NB4	blood:	n/a
46	chr21:44865764-44865814	GM06990	blood:	n/a
47	chr21:44868948-44868998	GM12892	blood:	n/a
48	chr21:44869785-44869835	AG09309	skin:	n/a
49	chr21:44863962-44864012	SK-N-SH_RA	brain:	n/a
50	chr21:44863611-44863661	AG09319	gingival:	n/a

(count:98 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:44856303..44858740-chr21:44869101..44871685,2	MCF-7	breast:
2	chr12:64237911..64238461-chr21:44865344..44866127,2	Hela-S3	cervix:
3	chr21:44853858..44855386-chr21:44856765..44859361,2	K562	blood:
4	chr21:44866574..44868384-chr21:44921844..44924261,3	MCF-7	breast:
5	chr21:44586813..44589241-chr21:44845396..44848609,3	MCF-7	breast:
6	chr21:44843469..44848793-chr21:44863960..44868998,7	MCF-7	breast:
7	chr21:44844655..44848445-chr21:44860622..44864995,4	K562	blood:
8	chr21:44849473..44851982-chr21:44934028..44935946,2	MCF-7	breast:
9	chr21:44854641..44856916-chr21:44907160..44909918,2	MCF-7	breast:
10	chr21:44597050..44598895-chr21:44866871..44869287,2	MCF-7	breast:
11	chr21:44803166..44805208-chr21:44860912..44863687,2	MCF-7	breast:
12	chr21:44853886..44856058-chr21:44856765..44858761,2	K562	blood:
13	chr21:44858418..44861523-chr21:44913554..44916370,3	MCF-7	breast:
14	chr21:44845531..44848527-chr21:45078395..45081083,3	K562	blood:
15	chr21:44850547..44853679-chr21:44861256..44863290,3	MCF-7	breast:
16	chr17:8113190..8113737-chr21:44856899..44857720,2	Hela-S3	cervix:
17	chr21:44866923..44869837-chr21:44897348..44898850,2	MCF-7	breast:
18	chr21:44863698..44865894-chr21:44867364..44869009,2	K562	blood:
19	chr21:44864230..44866337-chr21:44922192..44925093,2	MCF-7	breast:
20	chr21:44870566..44873425-chr21:44917940..44920112,2	MCF-7	breast:
21	chr21:44849921..44853234-chr21:44860394..44863956,3	MCF-7	breast:
22	chr1:161369557..161370167-chr21:44865534..44866035,2	Hela-S3	cervix:
23	chr21:44748879..44756198-chr21:44843023..44848924,8	MCF-7	breast:
24	chr21:44847194..44850306-chr21:45028262..45031203,4	MCF-7	breast:
25	chr21:44868612..44870635-chr21:44890162..44893361,3	MCF-7	breast:
26	chr21:44845446..44849726-chr21:44859252..44862423,6	MCF-7	breast:
27	chr21:44870036..44872760-chr21:44874681..44876370,2	MCF-7	breast:
28	chr21:44865824..44866471-chr6:160113909..160114880,2	Hela-S3	cervix:
29	chr11:46258674..46259334-chr21:44865342..44866086,2	Hela-S3	cervix:
30	chr21:44757949..44760610-chr21:44866735..44869231,2	MCF-7	breast:
31	chr21:44871086..44873252-chr21:44875393..44877647,3	K562	blood:
32	chr21:44866366..44868087-chr21:44868239..44871091,2	MCF-7	breast:
33	chr21:44853858..44855386-chr21:44856765..44859361,2	K562	blood:
34	chr11:65190384..65191206-chr21:44865591..44866142,2	Hela-S3	cervix:
35	chr21:44778568..44780302-chr21:44848836..44851138,2	MCF-7	breast:
36	chr21:44843469..44848793-chr21:44863960..44868998,7	MCF-7	breast:
37	chr21:44870027..44872296-chr21:44872310..44874913,2	MCF-7	breast:
38	chr20:60916095..60916842-chr21:44865570..44866473,2	Hela-S3	cervix:
39	chr21:44850854..44853003-chr21:44861192..44863321,2	K562	blood:
40	chr21:44841201..44844089-chr21:44865285..44867395,2	MCF-7	breast:
41	chr21:44860437..44861265-chr3:149094930..149095524,2	Hela-S3	cervix:
42	chr21:44852369..44854174-chr21:44865462..44867210,2	K562	blood:
43	chr21:44849005..44851028-chr21:44877473..44879496,2	MCF-7	breast:
44	chr21:44853886..44856058-chr21:44856765..44858761,2	K562	blood:
45	chr1:244614699..244615358-chr21:44847331..44848075,2	Hela-S3	cervix:
46	chr21:44854452..44857638-chr21:44859220..44863254,5	MCF-7	breast:
47	chr21:44781136..44783679-chr21:44846485..44848438,3	MCF-7	breast:
48	chr21:44850311..44852792-chr21:45138302..45140722,2	MCF-7	breast:
49	chr21:44845514..44848282-chr21:44863582..44866798,3	MCF-7	breast:
50	chr16:57836383..57837236-chr21:44864752..44865379,2	Hela-S3	cervix:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RRP1B-3	chr21:44871053-44873773	XLOC_013964
2	lnc-RRP1B-3	chr21:44868647-44868950	XLOC_013964
3	lnc-SIK1-4	chr21:44859455-44859759	XLOC_014105
4	lnc-RRP1B-3	chr21:44866481-44866779	XLOC_013964
5	lnc-RRP1B-3	chr21:44869904-44870801	ENSG00000188660
6	lnc-RRP1B-3	chr21:44870619-44870801	XLOC_013964
7	lnc-RRP1B-3	chr21:44871053-44872385	NR_026960
8	lnc-RRP1B-3	chr21:44869904-44870801	NR_026960
9	lnc-RRP1B-3	chr21:44871053-44872385	XLOC_013964
10	lnc-RRP1B-3	chr21:44866481-44866681	NONHSAT082409
11	lnc-RRP1B-3	chr21:44871053-44872385	ENSG00000188660
12	lnc-RRP1B-3	chr21:44871053-44873765	NONHSAT082409
13	lnc-RRP1B-3	chr21:44868647-44868950	NONHSAT082409
14	lnc-RRP1B-3	chr21:44869904-44870801	XLOC_013964
15	lnc-RRP1B-3	chr21:44871053-44872385	NONHSAT082407
16	lnc-RRP1B-3	chr21:44864600-44870801	NONHSAT082407
17	lnc-RRP1B-3	chr21:44866744-44866779	NONHSAT082409
18	lnc-RRP1B-3	chr21:44870619-44870801	NONHSAT082409

No data

Variant related genes	Relation type
LINC00319	TF binding region
SIK1	TF binding region
LINC00319	CpG island
SIK1	CpG island
ENSG00000160199	chromatin interactions
ENSG00000175711	chromatin interactions
ENSG00000196935	chromatin interactions
ENSG00000228120	chromatin interactions
ENSG00000160202	chromatin interactions
ENSG00000143337	chromatin interactions
ENSG00000272906	chromatin interactions
ENSG00000140859	chromatin interactions
ENSG00000237864	chromatin interactions
ENSG00000237989	chromatin interactions
ENSG00000160208	chromatin interactions
ENSG00000197568	chromatin interactions
ENSG00000142178	chromatin interactions
ENSG00000127914	chromatin interactions
ENSG00000178999	chromatin interactions
ENSG00000185808	chromatin interactions
ENSG00000155592	chromatin interactions
ENSG00000106392	chromatin interactions
ENSG00000185186	chromatin interactions
ENSG00000187742	chromatin interactions
ENSG00000112096	chromatin interactions
ENSG00000225637	chromatin interactions
ENSG00000188641	chromatin interactions
ENSG00000160209	chromatin interactions
ENSG00000160207	chromatin interactions
ENSG00000261971	chromatin interactions
ENSG00000169908	chromatin interactions
ENSG00000188660	chromatin interactions
ENSG00000004897	chromatin interactions
ENSG00000118454	chromatin interactions

Extended variants
information (count: 1066 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1066 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs229347	chr21:44848070-44848071	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs180784557	chr21:44848099-44848100	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs544639916	chr21:44848110-44848111	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs562742109	chr21:44848137-44848138	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs186217584	chr21:44848140-44848141	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs190215141	chr21:44848172-44848173	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs371063780	chr21:44848181-44848182	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs35161647	chr21:44848182-44848183	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs472497	chr21:44848203-44848204	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs182843305	chr21:44848216-44848217	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs150532609	chr21:44848234-44848235	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs3222944	chr21:44848242-44848243	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs58667067	chr21:44848243-44848244	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs60185073	chr21:44848244-44848245	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs151182560	chr21:44848271-44848272	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs550511608	chr21:44848274-44848275	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs568777737	chr21:44848340-44848341	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs140305208	chr21:44848374-44848375	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs185912990	chr21:44848380-44848381	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs572436070	chr21:44848406-44848407	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs528231154	chr21:44848413-44848414	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs566653069	chr21:44848445-44848446	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs190675427	chr21:44848477-44848478	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs113984210	chr21:44848515-44848516	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs577363451	chr21:44848550-44848551	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs537961016	chr21:44848608-44848609	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs556486491	chr21:44848610-44848611	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs552253970	chr21:44848669-44848670	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs73223024	chr21:44848799-44848800	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs542488068	chr21:44848800-44848801	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs531524031	chr21:44848812-44848813	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs560453629	chr21:44848846-44848847	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs7280092	chr21:44848849-44848850	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs35093403	chr21:44848861-44848862	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs545946891	chr21:44848867-44848868	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs549961489	chr21:44848897-44848898	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs149941282	chr21:44849020-44849021	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs561912237	chr21:44849114-44849115	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs528107146	chr21:44849117-44849118	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs34117964	chr21:44849139-44849140	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs188873033	chr21:44849187-44849188	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs550428496	chr21:44849197-44849198	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs374067945	chr21:44849198-44849199	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs562485366	chr21:44849220-44849221	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs146511700	chr21:44849244-44849245	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs35320081	chr21:44849283-44849284	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs527660136	chr21:44849287-44849288	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs375806560	chr21:44849293-44849294	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs528989473	chr21:44849347-44849348	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs548098601	chr21:44849348-44849349	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Prostate cancer	18632612	CNVD
Neuroblastoma	20406844	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:750 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44843800-44848200	Active TSS	Fetal Brain Female	brain
2	chr21:44844400-44848200	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr21:44844600-44848200	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr21:44845600-44848200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr21:44846000-44848200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr21:44846200-44848200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr21:44846400-44848200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr21:44846400-44848400	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr21:44847000-44848200	Active TSS	Right Atrium	heart
10	chr21:44847400-44848200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr21:44847400-44848200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr21:44847400-44848200	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr21:44847400-44848200	Active TSS	Rectal Smooth Muscle	rectum
14	chr21:44847400-44848200	Flanking Active TSS	HUVEC	blood vessel
15	chr21:44847400-44848200	Active TSS	NHDF-Ad	bronchial
16	chr21:44847400-44848400	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr21:44847400-44852000	Enhancers	Placenta	Placenta
18	chr21:44847600-44848200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr21:44847600-44848200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
20	chr21:44847600-44848200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr21:44847600-44848200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr21:44847600-44848200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr21:44847600-44848200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr21:44847600-44848200	Flanking Active TSS	NHEK	skin
25	chr21:44847600-44848400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
26	chr21:44847600-44849200	Enhancers	Spleen	Spleen
27	chr21:44847600-44850600	Enhancers	HepG2	liver
28	chr21:44847600-44851200	Weak transcription	Gastric	stomach
29	chr21:44847800-44848200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr21:44847800-44848200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
31	chr21:44847800-44848200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
32	chr21:44847800-44848200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
33	chr21:44847800-44848200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr21:44847800-44848200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
35	chr21:44847800-44848200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr21:44847800-44848200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr21:44847800-44848200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr21:44847800-44848200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr21:44847800-44848200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr21:44847800-44848200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr21:44847800-44848200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr21:44847800-44848200	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr21:44847800-44848200	Flanking Active TSS	Liver	Liver
44	chr21:44847800-44848200	Flanking Active TSS	Fetal Intestine Small	intestine
45	chr21:44847800-44848200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
46	chr21:44847800-44848200	Flanking Active TSS	Fetal Stomach	stomach
47	chr21:44847800-44848200	Flanking Bivalent TSS/Enh	Thymus	Thymus
48	chr21:44847800-44848200	Flanking Active TSS	GM12878-XiMat	blood
49	chr21:44847800-44848200	Flanking Active TSS	HSMM	muscle
50	chr21:44847800-44848200	Flanking Active TSS	Osteobl	bone

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