Variant report

Variant	esv3387851
Chromosome Location	chr21:45137749-45140297
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:655)
CpG islands
(count:488)
Chromatin interactive
region (count:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:655 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:45139049-45139374	HepG2	liver:	n/a	n/a
2	ATF1	chr21:45138761-45139394	K562	blood:	n/a	n/a
3	ATF2	chr21:45139110-45139649	GM12878	blood:	n/a	chr21:45139288-45139295
4	ATF2	chr21:45138605-45139005	GM12878	blood:	n/a	n/a
5	ATF3	chr21:45138711-45139487	K562	blood:	n/a	chr21:45138915-45138924
6	BACH1	chr21:45138660-45138850	K562	blood:	n/a	n/a
7	BACH1	chr21:45140213-45140388	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr21:45138412-45140005	H1-hESC	embryonic stem cell:	n/a	n/a
9	BHLHE40	chr21:45139042-45139437	HepG2	liver:	n/a	chr21:45139359-45139375
10	BHLHE40	chr21:45138670-45139969	K562	blood:	n/a	chr21:45139359-45139375
11	BHLHE40	chr21:45138725-45139900	GM12878	blood:	n/a	chr21:45139359-45139375
12	BRCA1	chr21:45139255-45139427	H1-hESC	embryonic stem cell:	n/a	n/a
13	BRCA1	chr21:45139143-45139293	GM12878	blood:	n/a	n/a
14	BRCA1	chr21:45138728-45138955	H1-hESC	embryonic stem cell:	n/a	n/a
15	BRCA1	chr21:45139777-45139779	HepG2	liver:	n/a	n/a
16	BRCA1	chr21:45140007-45140207	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr21:45138576-45139260	Hela-S3	cervix:	n/a	n/a
18	CBX3	chr21:45138558-45139014	K562	blood:	n/a	n/a
19	CCNT2	chr21:45138345-45140478	K562	blood:	n/a	chr21:45138465-45138474 chr21:45140113-45140122 chr21:45138915-45138924
20	CEBPB	chr21:45139098-45139499	IMR90	lung:	n/a	n/a
21	CEBPB	chr21:45138753-45138790	K562	blood:	n/a	n/a
22	CEBPB	chr21:45138681-45139479	HepG2	liver:	n/a	n/a
23	CEBPB	chr21:45139096-45139399	HepG2	liver:	n/a	n/a
24	CEBPB	chr21:45138856-45139675	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr21:45139147-45139462	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr21:45139211-45139343	HepG2	liver:	n/a	n/a
27	CEBPB	chr21:45139104-45139455	K562	blood:	n/a	n/a
28	CEBPB	chr21:45139102-45139465	K562	blood:	n/a	n/a
29	CEBPB	chr21:45139043-45139540	ECC-1	luminal epithelium:	n/a	n/a
30	CEBPB	chr21:45139112-45139455	HepG2	liver:	n/a	n/a
31	CEBPB	chr21:45139146-45139432	A549	lung:	n/a	n/a
32	CEBPB	chr21:45138930-45139629	MCF-7	breast:	n/a	n/a
33	CEBPD	chr21:45138681-45139404	HepG2	liver:	n/a	n/a
34	CHD1	chr21:45139079-45139961	GM12878	blood:	n/a	chr21:45139547-45139557
35	CHD1	chr21:45138578-45140930	IMR90	lung:	n/a	chr21:45139547-45139557
36	CHD2	chr21:45138510-45139554	Hela-S3	cervix:	n/a	n/a
37	CHD2	chr21:45138928-45138983	HepG2	liver:	n/a	n/a
38	CHD2	chr21:45139279-45139462	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr21:45138780-45139752	GM12878	blood:	n/a	chr21:45139547-45139557
40	CHD2	chr21:45138437-45140057	K562	blood:	n/a	chr21:45139547-45139557
41	CHD2	chr21:45139830-45140023	Hela-S3	cervix:	n/a	n/a
42	CHD2	chr21:45138723-45138876	H1-hESC	embryonic stem cell:	n/a	n/a
43	CREB1	chr21:45138638-45140015	GM12878	blood:	n/a	n/a
44	CREB1	chr21:45138518-45140427	HepG2	liver:	n/a	n/a
45	CREB1	chr21:45138564-45140150	K562	blood:	n/a	n/a
46	CREB1	chr21:45138740-45139519	H1-hESC	embryonic stem cell:	n/a	n/a
47	CREB1	chr21:45138799-45139543	H1-hESC	embryonic stem cell:	n/a	n/a
48	CREB1	chr21:45138695-45139517	A549	lung:	n/a	n/a
49	CTCF	chr21:45138738-45138907	MCF-7	breast:	n/a	chr21:45138861-45138874
50	CTCF	chr21:45138740-45138890	WERI-Rb-1	eye:	n/a	chr21:45138861-45138874

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45138843-45138893	HepG2	liver:	n/a
2	chr21:45139816-45139866	HL-60	blood:	n/a
3	chr21:45139816-45139866	A549	lung:	n/a
4	chr21:45139816-45139866	HUVEC	blood vessel:	n/a
5	chr21:45139229-45139279	HPAEpiC	pulmonary alveolar:	n/a
6	chr21:45138843-45138893	Hela-S3	cervix:	n/a
7	chr21:45138843-45138893	PANC-1	pancreas:	n/a
8	chr21:45138847-45138897	SK-N-SH_RA	brain:	n/a
9	chr21:45138838-45138888	SKMC	muscle:	n/a
10	chr21:45138843-45138893	NHBE	bronchial:	n/a
11	chr21:45139229-45139279	A549	lung:	n/a
12	chr21:45139816-45139866	MCF-7	breast:	n/a
13	chr21:45138838-45138888	ECC-1	luminal epithelium:	n/a
14	chr21:45138294-45138344	HAEpiC	amniotic membrane:	n/a
15	chr21:45138843-45138893	SKMC	muscle:	n/a
16	chr21:45138847-45138897	HAEpiC	amniotic membrane:	n/a
17	chr21:45138847-45138897	GM12891	blood:	n/a
18	chr21:45138294-45138344	CMK	blood:	n/a
19	chr21:45138838-45138888	HNPCEpiC	eye:	n/a
20	chr21:45139805-45139855	HRE	kidney:	n/a
21	chr21:45138843-45138893	GM12891	blood:	n/a
22	chr21:45139805-45139855	HCPEpiC	choroid plexus:	n/a
23	chr21:45138838-45138888	HRE	kidney:	n/a
24	chr21:45138294-45138344	HRPEpiC	eye:	n/a
25	chr21:45138847-45138897	MCF10A-Er-Src	breast:	n/a
26	chr21:45138847-45138897	HMEC	breast:	n/a
27	chr21:45139805-45139855	MCF-7	breast:	n/a
28	chr21:45139379-45139429	ECC-1	luminal epithelium:	n/a
29	chr21:45139379-45139429	NHDF-neo	bronchial:	n/a
30	chr21:45139805-45139855	H1-hESC	embryonic stem cell:	embryo
31	chr21:45138294-45138344	HCPEpiC	choroid plexus:	n/a
32	chr21:45138847-45138897	HRCEpiC	kidney:	n/a
33	chr21:45139816-45139866	NHDF-neo	bronchial:	n/a
34	chr21:45139379-45139429	MCF-7	breast:	n/a
35	chr21:45138294-45138344	Hepatocyte	liver:	n/a
36	chr21:45138843-45138893	HUVEC	blood vessel:	n/a
37	chr21:45138843-45138893	HEK293	kidney:	embryo
38	chr21:45139229-45139279	AG04450	lung:	fetal
39	chr21:45139805-45139855	GM12878	blood:	n/a
40	chr21:45139229-45139279	PFSK-1	brain:	n/a
41	chr21:45139816-45139866	Caco-2	colon:	n/a
42	chr21:45139229-45139279	ECC-1	luminal epithelium:	n/a
43	chr21:45139805-45139855	AG04449	skin:	fetal
44	chr21:45139379-45139429	Hela-S3	cervix:	n/a
45	chr21:45139805-45139855	SKMC	muscle:	n/a
46	chr21:45138843-45138893	IMR90	lung:	fetal
47	chr21:45138843-45138893	AG04450	lung:	fetal
48	chr21:45138294-45138344	ECC-1	luminal epithelium:	n/a
49	chr21:45139816-45139866	U87	brain:	n/a
50	chr21:45139379-45139429	T-47D	breast:	n/a

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45136545..45138543-chr21:45189331..45190847,2	K562	blood:
2	chr21:45077301..45079668-chr21:45138843..45140832,3	K562	blood:
3	chr21:45138427..45140484-chr21:45209568..45212113,2	K562	blood:
4	chr21:45136618..45138870-chr21:45233345..45236189,2	MCF-7	breast:
5	chr21:45137459..45139006-chr21:45757903..45760574,2	K562	blood:
6	chr21:45139088..45141459-chr21:45195022..45196764,2	K562	blood:
7	chr17:62501067..62503702-chr21:45138284..45140156,2	MCF-7	breast:
8	chr21:44527246..44529052-chr21:45137735..45140365,2	K562	blood:
9	chr21:44394729..44396277-chr21:45138959..45140606,2	MCF-7	breast:
10	chr21:45138069..45142004-chr21:45192681..45200004,8	MCF-7	breast:
11	chr21:45138839..45140766-chr21:45430959..45433329,2	MCF-7	breast:
12	chr21:45136006..45137816-chr21:45211885..45214018,2	MCF-7	breast:
13	chr21:45105070..45107899-chr21:45137956..45140399,2	MCF-7	breast:
14	chr21:45137509..45139216-chr21:45209353..45211646,2	K562	blood:
15	chr21:45138749..45140625-chr21:45164594..45167451,2	MCF-7	breast:
16	chr11:62432398..62433340-chr21:45138648..45139625,2	MCF-7	breast:
17	chr21:45137354..45140305-chr21:45163614..45165870,3	MCF-7	breast:
18	chr21:45136716..45139544-chr3:64006873..64009163,2	MCF-7	breast:
19	chr21:45138878..45139799-chr21:45148124..45149007,3	K562	blood:
20	chr21:45113016..45114535-chr21:45136348..45138090,2	MCF-7	breast:
21	chr21:44527539..44529052-chr21:45138865..45141097,2	K562	blood:
22	chr17:41400474..41402033-chr21:45139441..45140961,2	MCF-7	breast:
23	chr21:45077264..45080546-chr21:45137817..45144125,9	MCF-7	breast:
24	chr21:45103862..45106671-chr21:45138223..45140782,2	MCF-7	breast:
25	chr21:45078168..45080813-chr21:45138258..45142239,4	K562	blood:
26	chr21:45137876..45142347-chr21:45194759..45200624,9	MCF-7	breast:
27	chr17:41466194..41467161-chr21:45138941..45139461,2	MCF-7	breast:
28	chr21:45137445..45140588-chr21:45195005..45197401,3	K562	blood:
29	chr21:45138000..45143848-chr21:45206375..45212489,9	MCF-7	breast:
30	chr12:120727925..120730755-chr21:45138077..45140298,2	MCF-7	breast:
31	chr21:44393615..44395899-chr21:45138113..45140493,2	K562	blood:
32	chr21:45136894..45141532-chr21:45205840..45211872,8	MCF-7	breast:
33	chr21:45130889..45133239-chr21:45139686..45141208,2	K562	blood:

No data

Variant related genes	Relation type
PDXK	TF binding region
PDXK	CpG island
ENSG00000160199	chromatin interactions
ENSG00000206597	chromatin interactions
ENSG00000163636	chromatin interactions
ENSG00000160218	chromatin interactions
ENSG00000160201	chromatin interactions
ENSG00000162194	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000214756	chromatin interactions
ENSG00000258890	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000160209	chromatin interactions
ENSG00000232969	chromatin interactions
ENSG00000160226	chromatin interactions
ENSG00000108654	chromatin interactions
ENSG00000160214	chromatin interactions
ENSG00000160208	chromatin interactions
ENSG00000160207	chromatin interactions
ENSG00000255432	chromatin interactions
ENSG00000160213	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149201957	chr21:45137769-45137770	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs2002483	chr21:45137805-45137806	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs547856641	chr21:45137830-45137831	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs566134720	chr21:45137847-45137848	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs2002482	chr21:45137853-45137854	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs533010119	chr21:45137870-45137871	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs201953455	chr21:45137896-45137897	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs140673894	chr21:45137901-45137902	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs374154544	chr21:45137979-45137980	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs537671126	chr21:45137996-45137997	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs377685855	chr21:45138009-45138010	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs574648572	chr21:45138058-45138059	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs535972577	chr21:45138080-45138081	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs554260833	chr21:45138096-45138097	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs572480333	chr21:45138106-45138107	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs546169295	chr21:45138116-45138117	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs1107204	chr21:45138118-45138119	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs576660352	chr21:45138124-45138125	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs145753364	chr21:45138138-45138139	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs562329826	chr21:45138142-45138143	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs529400499	chr21:45138193-45138194	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs1547239	chr21:45138200-45138201	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs559808648	chr21:45138217-45138218	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs549650982	chr21:45138234-45138235	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs527335046	chr21:45138252-45138253	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs551412830	chr21:45138261-45138262	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs570686941	chr21:45138267-45138268	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs538155237	chr21:45138314-45138315	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
29	rs531152857	chr21:45138355-45138356	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
30	rs4819302	chr21:45138375-45138376	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
31	rs564062349	chr21:45138399-45138400	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
32	rs549776668	chr21:45138415-45138416	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
33	rs9981249	chr21:45138420-45138421	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs535604525	chr21:45138423-45138424	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
35	rs554346737	chr21:45138447-45138448	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
36	rs572567808	chr21:45138476-45138477	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
37	rs539484721	chr21:45138519-45138520	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
38	rs370487789	chr21:45138678-45138679	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
39	rs72004735	chr21:45138710-45138711	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
40	rs576330028	chr21:45138719-45138720	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
41	rs544098649	chr21:45138726-45138727	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
42	rs67404467	chr21:45138733-45138734	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
43	rs562006634	chr21:45138759-45138760	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
44	rs373885341	chr21:45138836-45138837	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
45	rs146826482	chr21:45138869-45138870	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
46	rs71195933	chr21:45138877-45138878	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
47	rs368052534	chr21:45138878-45138879	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
48	rs62229179	chr21:45138930-45138931	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs564750958	chr21:45138952-45138953	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
50	rs559845445	chr21:45138988-45138989	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
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
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
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:453 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45123200-45138200	Weak transcription	Ovary	ovary
2	chr21:45123600-45138400	Weak transcription	Right Atrium	heart
3	chr21:45131400-45138200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr21:45132400-45138000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr21:45132400-45138200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr21:45132800-45138000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr21:45132800-45138000	Weak transcription	Liver	Liver
8	chr21:45132800-45138000	Weak transcription	Esophagus	oesophagus
9	chr21:45132800-45138000	Weak transcription	Pancreas	Pancrea
10	chr21:45132800-45138200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr21:45133000-45138000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr21:45133000-45138000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr21:45133000-45138000	Weak transcription	Osteobl	bone
14	chr21:45133000-45138200	Weak transcription	Adipose Nuclei	Adipose
15	chr21:45133200-45138000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr21:45133200-45138000	Weak transcription	HMEC	breast
17	chr21:45133200-45138200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr21:45133800-45137800	Weak transcription	Fetal Intestine Large	intestine
19	chr21:45133800-45138200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr21:45134000-45138000	Weak transcription	Hela-S3	cervix
21	chr21:45135600-45138000	Enhancers	A549	lung
22	chr21:45135800-45138000	Enhancers	HepG2	liver
23	chr21:45135800-45138400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
24	chr21:45136000-45138000	Weak transcription	Spleen	Spleen
25	chr21:45136000-45138200	Enhancers	Primary B cells from cord blood	blood
26	chr21:45136000-45138400	Enhancers	HSMM	muscle
27	chr21:45136000-45138400	Enhancers	HSMMtube	muscle
28	chr21:45136200-45138200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr21:45136400-45138000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr21:45136400-45138400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr21:45136600-45138000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr21:45136600-45138000	Enhancers	Duodenum Mucosa	Duodenum
33	chr21:45136600-45138200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr21:45136800-45138200	Weak transcription	NHLF	lung
35	chr21:45136800-45138400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr21:45137000-45138000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr21:45137000-45138000	Weak transcription	K562	blood
38	chr21:45137000-45138200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr21:45137000-45138200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr21:45137200-45138200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr21:45137400-45137800	Weak transcription	Colonic Mucosa	Colon
42	chr21:45137400-45138000	Enhancers	Stomach Mucosa	stomach
43	chr21:45137400-45138000	Enhancers	GM12878-XiMat	blood
44	chr21:45137400-45138200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr21:45137400-45138200	Enhancers	Fetal Intestine Small	intestine
46	chr21:45137400-45138200	Enhancers	Placenta	Placenta
47	chr21:45137400-45138200	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr21:45137600-45138000	Weak transcription	Lung	lung
49	chr21:45137600-45138400	Weak transcription	NHDF-Ad	bronchial
50	chr21:45137800-45138000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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