Variant report

Variant	nsv587720
Chromosome Location	chr21:45232322-45263920
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:773)
CpG islands
(count:979)
Chromatin interactive
region (count:80)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:773 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr21:45258795-45259076	GM12878	blood:	n/a	chr21:45258889-45258900
2	BATF	chr21:45262695-45262931	GM12878	blood:	n/a	n/a
3	BCL11A	chr21:45258829-45259134	GM12878	blood:	n/a	n/a
4	BCL3	chr21:45246319-45246608	GM12878	blood:	n/a	n/a
5	BCL3	chr21:45247035-45247302	GM12878	blood:	n/a	n/a
6	BCL3	chr21:45246275-45246666	GM12878	blood:	n/a	n/a
7	BHLHE40	chr21:45244366-45244530	K562	blood:	n/a	n/a
8	BHLHE40	chr21:45262718-45262788	GM12878	blood:	n/a	n/a
9	BHLHE40	chr21:45238457-45238507	K562	blood:	n/a	n/a
10	BHLHE40	chr21:45249472-45249684	K562	blood:	n/a	n/a
11	BHLHE40	chr21:45258996-45259004	K562	blood:	n/a	n/a
12	BHLHE40	chr21:45258850-45259152	GM12878	blood:	n/a	n/a
13	BRCA1	chr21:45247094-45247335	Hela-S3	cervix:	n/a	n/a
14	CBX3	chr21:45245011-45245299	K562	blood:	n/a	n/a
15	CBX3	chr21:45244243-45244895	K562	blood:	n/a	n/a
16	CBX3	chr21:45249357-45249962	K562	blood:	n/a	n/a
17	CBX3	chr21:45253339-45253725	K562	blood:	n/a	n/a
18	CCNT2	chr21:45247247-45247259	K562	blood:	n/a	n/a
19	CCNT2	chr21:45244276-45244582	K562	blood:	n/a	n/a
20	CEBPB	chr21:45238100-45238206	K562	blood:	n/a	n/a
21	CEBPB	chr21:45261029-45261271	K562	blood:	n/a	n/a
22	CEBPB	chr21:45246256-45246456	HepG2	liver:	n/a	n/a
23	CEBPB	chr21:45258241-45258434	K562	blood:	n/a	chr21:45258304-45258315
24	CEBPB	chr21:45262237-45262436	K562	blood:	n/a	chr21:45262270-45262281
25	CEBPB	chr21:45258223-45258475	HepG2	liver:	n/a	chr21:45258304-45258315
26	CEBPB	chr21:45258182-45258373	HepG2	liver:	n/a	chr21:45258304-45258315
27	CEBPB	chr21:45262182-45262374	HepG2	liver:	n/a	chr21:45262270-45262281
28	CEBPB	chr21:45251635-45251892	HepG2	liver:	n/a	n/a
29	CEBPB	chr21:45262166-45262437	HepG2	liver:	n/a	chr21:45262270-45262281
30	CEBPB	chr21:45251675-45251910	K562	blood:	n/a	n/a
31	CEBPZ	chr21:45253667-45253717	HepG2	liver:	n/a	n/a
32	CHD2	chr21:45249530-45249641	HepG2	liver:	n/a	n/a
33	CHD2	chr21:45249626-45249826	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr21:45258930-45259035	GM12878	blood:	n/a	n/a
35	CHD2	chr21:45246243-45246429	Hela-S3	cervix:	n/a	n/a
36	CHD2	chr21:45246865-45247333	Hela-S3	cervix:	n/a	n/a
37	CHD2	chr21:45249803-45249968	K562	blood:	n/a	n/a
38	CHD2	chr21:45236692-45236795	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr21:45246872-45246880	HepG2	liver:	n/a	n/a
40	CTCF	chr21:45249482-45249629	GM19240	blood:	n/a	n/a
41	CTCF	chr21:45236160-45236310	GM12874	blood:	n/a	chr21:45236289-45236297
42	CTCF	chr21:45232560-45232710	HMEC	breast:	n/a	n/a
43	CTCF	chr21:45246040-45246190	HA-sp	spinal cord:	n/a	n/a
44	CTCF	chr21:45236620-45236770	GM12872	blood:	n/a	chr21:45236735-45236756 chr21:45236742-45236755 chr21:45236741-45236757 chr21:45236740-45236758 chr21:45236638-45236651
45	CTCF	chr21:45249420-45249570	HRE	kidney:	n/a	n/a
46	CTCF	chr21:45246120-45246270	HCFaa	heart:	n/a	chr21:45246183-45246196
47	CTCF	chr21:45246100-45246250	Hela-S3	cervix:	n/a	chr21:45246183-45246196
48	CTCF	chr21:45254748-45254794	GM19238	blood:	n/a	n/a
49	CTCF	chr21:45249440-45249590	HCPEpiC	choroid plexus:	n/a	n/a
50	CTCF	chr21:45246020-45246170	RPTEC	kidney:	n/a	n/a

(count:979 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45249837-45249887	K562	blood:	n/a
2	chr21:45232595-45232645	HNPCEpiC	eye:	n/a
3	chr21:45247038-45247088	HCT-116	colon:	n/a
4	chr21:45249837-45249887	K562	blood:	n/a
5	chr21:45232595-45232645	HNPCEpiC	eye:	n/a
6	chr21:45247038-45247088	HCT-116	colon:	n/a
7	chr21:45232531-45232581	Caco-2	colon:	n/a
8	chr21:45232601-45232651	AG09309	skin:	n/a
9	chr21:45233662-45233712	HAEpiC	amniotic membrane:	n/a
10	chr21:45233662-45233712	HCM	heart:	n/a
11	chr21:45232531-45232581	HEEpiC	esophagus:	n/a
12	chr21:45233585-45233635	HRCEpiC	kidney:	n/a
13	chr21:45232601-45232651	HRPEpiC	eye:	n/a
14	chr21:45246308-45246358	GM12892	blood:	n/a
15	chr21:45232595-45232645	HRE	kidney:	n/a
16	chr21:45233508-45233558	HIPEpiC	eye:	n/a
17	chr21:45246164-45246214	PANC-1	pancreas:	n/a
18	chr21:45233662-45233712	HPAEpiC	pulmonary alveolar:	n/a
19	chr21:45233585-45233635	SK-N-MC	brain:	n/a
20	chr21:45246252-45246302	GM12878	blood:	n/a
21	chr21:45232595-45232645	HAEpiC	amniotic membrane:	n/a
22	chr21:45246363-45246413	GM06990	blood:	n/a
23	chr21:45246308-45246358	PrEC	prostate:	n/a
24	chr21:45246308-45246358	GM12878	blood:	n/a
25	chr21:45232531-45232581	ovcar-3	ovarian:	n/a
26	chr21:45232595-45232645	AG09319	gingival:	n/a
27	chr21:45232601-45232651	AG04449	skin:	fetal
28	chr21:45232601-45232651	SAEC	small airway:	n/a
29	chr21:45246252-45246302	AG09319	gingival:	n/a
30	chr21:45232595-45232645	RPTEC	kidney:	n/a
31	chr21:45232587-45232637	IMR90	lung:	fetal
32	chr21:45246363-45246413	GM12892	blood:	n/a
33	chr21:45232601-45232651	GM19239	blood:	n/a
34	chr21:45233585-45233635	AoSMC	blood vessel:	n/a
35	chr21:45246164-45246214	HCPEpiC	choroid plexus:	n/a
36	chr21:45233585-45233635	NB4	blood:	n/a
37	chr21:45246363-45246413	HRPEpiC	eye:	n/a
38	chr21:45246308-45246358	ovcar-3	ovarian:	n/a
39	chr21:45232601-45232651	SK-N-SH_RA	brain:	n/a
40	chr21:45233508-45233558	AG04450	lung:	fetal
41	chr21:45249837-45249887	HepG2	liver:	n/a
42	chr21:45232601-45232651	GM12892	blood:	n/a
43	chr21:45246252-45246302	HNPCEpiC	eye:	n/a
44	chr21:45249837-45249887	HCF	heart:	n/a
45	chr21:45232595-45232645	PFSK-1	brain:	n/a
46	chr21:45233585-45233635	HepG2	liver:	n/a
47	chr21:45249837-45249887	A549	lung:	n/a
48	chr21:45233662-45233712	HL-60	blood:	n/a
49	chr21:45233508-45233558	H1-hESC	embryonic stem cell:	embryo
50	chr21:45233585-45233635	MCF-7	breast:	n/a

(count:80 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:45228584..45234568-chr21:45342221..45347972,7	K562	blood:
2	chr21:45230202..45231969-chr21:45236707..45239861,3	MCF-7	breast:
3	chr21:45250176..45252507-chr21:45266082..45267987,2	MCF-7	breast:
4	chr21:45257189..45259738-chr21:45430883..45432631,2	K562	blood:
5	chr21:45255011..45256838-chr21:45256879..45259867,3	K562	blood:
6	chr21:45192905..45195528-chr21:45235425..45238416,2	MCF-7	breast:
7	chr21:45237201..45239998-chr21:45352077..45354787,2	K562	blood:
8	chr21:45254192..45256838-chr21:45256879..45259867,3	K562	blood:
9	chr21:45248952..45249750-chr21:45395021..45396037,3	MCF-7	breast:
10	chr21:45233269..45236576-chr21:45283514..45285914,3	MCF-7	breast:
11	chr21:45233511..45236046-chr21:45357246..45359137,3	K562	blood:
12	chr21:45238123..45243699-chr21:45249780..45254219,5	K562	blood:
13	chr21:45233457..45236060-chr21:45527747..45529523,2	MCF-7	breast:
14	chr21:45225718..45228025-chr21:45244966..45246549,2	MCF-7	breast:
15	chr21:45249509..45251897-chr21:45254038..45257016,3	K562	blood:
16	chr21:45233461..45235454-chr21:45304310..45305936,2	K562	blood:
17	chr21:45238190..45239894-chr21:45283911..45285576,2	MCF-7	breast:
18	chr21:45261344..45263558-chr21:45354374..45356683,2	K562	blood:
19	chr21:45249565..45251111-chr21:45525801..45527858,2	MCF-7	breast:
20	chr21:45252796..45255240-chr21:45273373..45275874,2	K562	blood:
21	chr21:45233535..45235177-chr21:45269820..45272571,2	MCF-7	breast:
22	chr21:45254709..45256717-chr21:45274155..45276543,2	MCF-7	breast:
23	chr21:45234318..45236275-chr21:45396629..45398423,2	MCF-7	breast:
24	chr21:45210395..45213335-chr21:45233315..45235867,2	MCF-7	breast:
25	chr21:45230413..45233240-chr21:45552025..45554993,2	MCF-7	breast:
26	chr21:45233056..45235969-chr21:45284211..45286371,2	MCF-7	breast:
27	chr21:45226367..45233141-chr21:45284145..45288607,11	K562	blood:
28	chr21:45238343..45240639-chr21:45244780..45247104,2	MCF-7	breast:
29	chr21:45262417..45264171-chr21:45290181..45291751,2	K562	blood:
30	chr21:45245397..45247406-chr21:45719221..45721877,2	K562	blood:
31	chr21:45254673..45257223-chr21:45369004..45371482,2	K562	blood:
32	chr21:45249294..45252686-chr21:45284746..45287890,3	K562	blood:
33	chr21:45255011..45256838-chr21:45256879..45259867,3	K562	blood:
34	chr21:45230338..45231005-chr21:45249127..45250028,2	MCF-7	breast:
35	chr21:45249509..45251897-chr21:45254038..45257016,3	K562	blood:
36	chr21:45202942..45205405-chr21:45231641..45234246,2	K562	blood:
37	chr21:45249455..45252079-chr21:45279419..45281351,2	K562	blood:
38	chr21:45259706..45262465-chr21:45266330..45269071,2	K562	blood:
39	chr21:45249077..45249616-chr21:45337283..45338226,2	K562	blood:
40	chr21:45242806..45245083-chr21:45249324..45252265,2	MCF-7	breast:
41	chr21:45226284..45237567-chr21:45281864..45289573,19	K562	blood:
42	chr21:45256513..45258052-chr21:45276147..45278595,2	K562	blood:
43	chr21:45233368..45235252-chr21:45401269..45403414,2	MCF-7	breast:
44	chr21:45240125..45242679-chr21:45283332..45285060,2	MCF-7	breast:
45	chr21:45194765..45196421-chr21:45232951..45234586,2	MCF-7	breast:
46	chr21:45233511..45237736-chr21:45356519..45359137,5	K562	blood:
47	chr21:45244325..45246343-chr21:45341504..45344218,2	K562	blood:
48	chr21:45254192..45256838-chr21:45256879..45259867,3	K562	blood:
49	chr21:45244798..45246785-chr21:45283892..45286070,2	MCF-7	breast:
50	chr21:45261247..45264738-chr21:45270160..45273538,3	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CSTB-2	chr21:45243514-45243999	l_2228_chr21:45243513-45244760_testes
2	lnc-CSTB-2	chr21:45248787-45249070	NONHSAT082461
3	lnc-CSTB-2	chr21:45244734-45244760	l_2228_chr21:45243513-45244760_testes
4	lnc-CSTB-2	chr21:45248787-45249070	l_2228_chr21:45243513-45244760_testes
5	lnc-CSTB-2	chr21:45243550-45243999	NONHSAT082461

No data

Variant related genes	Relation type
ENSG00000215458	TF binding region
ENSG00000215458	CpG island
ENSG00000160214	chromatin interactions
ENSG00000234030	chromatin interactions
ENSG00000241945	chromatin interactions
ENSG00000199598	chromatin interactions
ENSG00000215458	chromatin interactions
ENSG00000160216	chromatin interactions
ENSG00000141959	chromatin interactions
ENSG00000160218	chromatin interactions
ENSG00000160213	chromatin interactions
ENSG00000160223	chromatin interactions
ENSG00000160221	chromatin interactions
ENSG00000226543	chromatin interactions

Extended variants
information (count: 1647 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1647 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9985006	chr21:45232322-45232323	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs77098967	chr21:45232409-45232410	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs548562724	chr21:45232424-45232425	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs74562384	chr21:45232431-45232432	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs138224805	chr21:45232459-45232460	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs559141133	chr21:45232461-45232462	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs376330198	chr21:45232476-45232477	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs570947728	chr21:45232478-45232479	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs138705000	chr21:45232479-45232480	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs553641288	chr21:45232481-45232482	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs531788885	chr21:45232503-45232504	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs79772272	chr21:45232514-45232515	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs574952462	chr21:45232531-45232532	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs542228408	chr21:45232596-45232597	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs554118570	chr21:45232601-45232602	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs73906627	chr21:45232602-45232603	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs540143435	chr21:45232606-45232607	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs565131512	chr21:45232632-45232633	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs532204090	chr21:45232731-45232732	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs544347533	chr21:45232772-45232773	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs562853090	chr21:45232783-45232784	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs532763330	chr21:45232841-45232842	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs66816110	chr21:45232844-45232845	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs551360144	chr21:45232849-45232850	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs560144795	chr21:45232851-45232852	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs397948682	chr21:45232852-45232853	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs66535748	chr21:45232853-45232854	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs528032557	chr21:45232860-45232861	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs11089097	chr21:45232861-45232862	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs571075800	chr21:45232864-45232865	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs538062400	chr21:45232897-45232898	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs6518324	chr21:45232950-45232951	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs369433144	chr21:45232970-45232971	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs575840271	chr21:45233003-45233004	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs568630791	chr21:45233030-45233031	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs374144366	chr21:45233079-45233080	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs377148804	chr21:45233118-45233119	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs554179997	chr21:45233141-45233142	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs543019340	chr21:45233209-45233210	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs533609940	chr21:45233218-45233219	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs572498826	chr21:45233256-45233257	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs561169424	chr21:45233278-45233279	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs77485273	chr21:45233279-45233280	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs2838393	chr21:45233318-45233319	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs577028191	chr21:45233327-45233328	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs544093141	chr21:45233328-45233329	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs562650615	chr21:45233356-45233357	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs2838394	chr21:45233500-45233501	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs542333875	chr21:45233513-45233514	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs560518260	chr21:45233520-45233521	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 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
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
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

Chromatin state (count:607 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45211000-45257200	Weak transcription	Right Atrium	heart
2	chr21:45221800-45234200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr21:45224600-45234600	Weak transcription	Hela-S3	cervix
4	chr21:45224800-45234200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:45224800-45238400	Weak transcription	Aorta	Aorta
6	chr21:45226200-45234200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr21:45226400-45234400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr21:45226600-45234800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr21:45226800-45234400	Weak transcription	Brain Germinal Matrix	brain
10	chr21:45226800-45234800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr21:45229200-45232600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr21:45229200-45232800	Enhancers	Ovary	ovary
13	chr21:45229600-45232800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr21:45229800-45237000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr21:45230200-45232400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr21:45230200-45232800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr21:45230200-45232800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr21:45230200-45233000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr21:45230200-45233200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr21:45230400-45232600	Enhancers	Fetal Thymus	thymus
21	chr21:45230400-45232600	Enhancers	Gastric	stomach
22	chr21:45230600-45232400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr21:45230600-45232400	Enhancers	A549	lung
24	chr21:45230600-45232600	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr21:45230600-45232600	Flanking Active TSS	Colonic Mucosa	Colon
26	chr21:45230600-45232600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr21:45230600-45232800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr21:45230600-45232800	Enhancers	Brain Substantia Nigra	brain
29	chr21:45230600-45232800	Enhancers	Fetal Lung	lung
30	chr21:45230800-45232400	Bivalent Enhancer	Fetal Stomach	stomach
31	chr21:45230800-45233200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr21:45230800-45233200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr21:45230800-45233200	Enhancers	Lung	lung
34	chr21:45231000-45232400	Active TSS	Rectal Smooth Muscle	rectum
35	chr21:45231000-45232600	Flanking Active TSS	HMEC	breast
36	chr21:45231000-45234400	Weak transcription	Fetal Brain Male	brain
37	chr21:45231200-45232400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr21:45231200-45232400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr21:45231200-45232600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr21:45231200-45232600	Enhancers	Brain Cingulate Gyrus	brain
41	chr21:45231200-45232800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr21:45231200-45232800	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr21:45231200-45232800	Flanking Active TSS	NHEK	skin
44	chr21:45231200-45234200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr21:45231200-45234200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr21:45231200-45234200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr21:45231200-45234200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr21:45231200-45234200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr21:45231200-45234400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr21:45231200-45234400	Weak transcription	Pancreas	Pancrea

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