Variant report

Variant	nsv587718
Chromosome Location	chr21:45210932-45252838
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1844)
CpG islands
(count:1467)
Chromatin interactive
region (count:134)
LncRNA
region (count:20)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1844 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:45230711-45230921	K562	blood:	n/a	n/a
2	ATF2	chr21:45230618-45231142	GM12878	blood:	n/a	n/a
3	ATF2	chr21:45225114-45226193	GM12878	blood:	n/a	n/a
4	ATF2	chr21:45225100-45225830	GM12878	blood:	n/a	n/a
5	ATF3	chr21:45230203-45230542	K562	blood:	n/a	n/a
6	ATF3	chr21:45230571-45230910	K562	blood:	n/a	n/a
7	BACH1	chr21:45230707-45230937	K562	blood:	n/a	n/a
8	BACH1	chr21:45230745-45230981	H1-hESC	embryonic stem cell:	n/a	n/a
9	BATF	chr21:45230670-45230927	GM12878	blood:	n/a	n/a
10	BATF	chr21:45225357-45225722	GM12878	blood:	n/a	chr21:45225615-45225626
11	BATF	chr21:45225275-45225906	GM12878	blood:	n/a	chr21:45225615-45225626
12	BCL11A	chr21:45225103-45225641	GM12878	blood:	n/a	n/a
13	BCL11A	chr21:45225037-45225741	GM12878	blood:	n/a	n/a
14	BCL11A	chr21:45230649-45230948	GM12878	blood:	n/a	n/a
15	BCL3	chr21:45246319-45246608	GM12878	blood:	n/a	n/a
16	BCL3	chr21:45224336-45224987	K562	blood:	n/a	n/a
17	BCL3	chr21:45225042-45225765	GM12878	blood:	n/a	n/a
18	BCL3	chr21:45247035-45247302	GM12878	blood:	n/a	n/a
19	BCL3	chr21:45246275-45246666	GM12878	blood:	n/a	n/a
20	BCLAF1	chr21:45230623-45231085	GM12878	blood:	n/a	n/a
21	BCLAF1	chr21:45225129-45225851	GM12878	blood:	n/a	n/a
22	BCLAF1	chr21:45230598-45231041	GM12878	blood:	n/a	n/a
23	BCLAF1	chr21:45225112-45225757	GM12878	blood:	n/a	n/a
24	BHLHE40	chr21:45238457-45238507	K562	blood:	n/a	n/a
25	BHLHE40	chr21:45211072-45211273	GM12878	blood:	n/a	n/a
26	BHLHE40	chr21:45230594-45231125	K562	blood:	n/a	n/a
27	BHLHE40	chr21:45225443-45225658	K562	blood:	n/a	n/a
28	BHLHE40	chr21:45225027-45226022	GM12878	blood:	n/a	n/a
29	BHLHE40	chr21:45230622-45231042	GM12878	blood:	n/a	n/a
30	BHLHE40	chr21:45230644-45231017	HepG2	liver:	n/a	n/a
31	BHLHE40	chr21:45212540-45212623	GM12878	blood:	n/a	n/a
32	BHLHE40	chr21:45232195-45232216	HepG2	liver:	n/a	n/a
33	BHLHE40	chr21:45249472-45249684	K562	blood:	n/a	n/a
34	BHLHE40	chr21:45244366-45244530	K562	blood:	n/a	n/a
35	BRCA1	chr21:45247094-45247335	Hela-S3	cervix:	n/a	n/a
36	BRCA1	chr21:45229336-45229354	GM12878	blood:	n/a	n/a
37	BRCA1	chr21:45230945-45231132	HepG2	liver:	n/a	n/a
38	CBX3	chr21:45249357-45249962	K562	blood:	n/a	n/a
39	CBX3	chr21:45230162-45230600	K562	blood:	n/a	n/a
40	CBX3	chr21:45230636-45230943	K562	blood:	n/a	n/a
41	CBX3	chr21:45244243-45244895	K562	blood:	n/a	n/a
42	CBX3	chr21:45230602-45231120	K562	blood:	n/a	n/a
43	CBX3	chr21:45245011-45245299	K562	blood:	n/a	n/a
44	CCNT2	chr21:45244276-45244582	K562	blood:	n/a	n/a
45	CCNT2	chr21:45247247-45247259	K562	blood:	n/a	n/a
46	CCNT2	chr21:45227861-45227949	K562	blood:	n/a	n/a
47	CCNT2	chr21:45225192-45225351	K562	blood:	n/a	n/a
48	CCNT2	chr21:45230681-45231185	K562	blood:	n/a	n/a
49	CEBPB	chr21:45231992-45232226	A549	lung:	n/a	n/a
50	CEBPB	chr21:45230769-45230941	HepG2	liver:	n/a	n/a

(count:1467 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45223524-45223574	T-47D	breast:	n/a
2	chr21:45233662-45233712	CMK	blood:	n/a
3	chr21:45232587-45232637	BJ	skin:	n/a
4	chr21:45223524-45223574	T-47D	breast:	n/a
5	chr21:45233662-45233712	CMK	blood:	n/a
6	chr21:45232587-45232637	BJ	skin:	n/a
7	chr21:45222227-45222277	HRE	kidney:	n/a
8	chr21:45213674-45213724	MCF10A-Er-Src	breast:	n/a
9	chr21:45246252-45246302	AG09319	gingival:	n/a
10	chr21:45243302-45243352	NH-A	brain:	n/a
11	chr21:45232601-45232651	NH-A	brain:	n/a
12	chr21:45223723-45223773	AG04450	lung:	fetal
13	chr21:45221122-45221172	HNPCEpiC	eye:	n/a
14	chr21:45232601-45232651	GM12878	blood:	n/a
15	chr21:45233662-45233712	HCF	heart:	n/a
16	chr21:45233662-45233712	SK-N-SH	brain:	n/a
17	chr21:45223723-45223773	MCF10A-Er-Src	breast:	n/a
18	chr21:45249837-45249887	GM12878	blood:	n/a
19	chr21:45232531-45232581	HPAEpiC	pulmonary alveolar:	n/a
20	chr21:45246252-45246302	BE2_C	brain:	n/a
21	chr21:45232587-45232637	PANC-1	pancreas:	n/a
22	chr21:45222227-45222277	HIPEpiC	eye:	n/a
23	chr21:45232601-45232651	AoSMC	blood vessel:	n/a
24	chr21:45232531-45232581	AG04449	skin:	fetal
25	chr21:45243302-45243352	HRE	kidney:	n/a
26	chr21:45247038-45247088	BE2_C	brain:	n/a
27	chr21:45246164-45246214	Jurkat	blood:	n/a
28	chr21:45221122-45221172	NHDF-neo	bronchial:	n/a
29	chr21:45232531-45232581	RPTEC	kidney:	n/a
30	chr21:45232232-45232282	HMEC	breast:	n/a
31	chr21:45246308-45246358	AoSMC	blood vessel:	n/a
32	chr21:45246441-45246491	NB4	blood:	n/a
33	chr21:45246060-45246110	Jurkat	blood:	n/a
34	chr21:45247038-45247088	GM19239	blood:	n/a
35	chr21:45223723-45223773	AG09319	gingival:	n/a
36	chr21:45232595-45232645	AoSMC	blood vessel:	n/a
37	chr21:45246441-45246491	HL-60	blood:	n/a
38	chr21:45249837-45249887	HEK293	kidney:	embryo
39	chr21:45232601-45232651	MCF10A-Er-Src	breast:	n/a
40	chr21:45213674-45213724	HIPEpiC	eye:	n/a
41	chr21:45246363-45246413	AG09319	gingival:	n/a
42	chr21:45246441-45246491	HNPCEpiC	eye:	n/a
43	chr21:45246164-45246214	HCF	heart:	n/a
44	chr21:45246060-45246110	HEEpiC	esophagus:	n/a
45	chr21:45246252-45246302	HCF	heart:	n/a
46	chr21:45247038-45247088	HPAEpiC	pulmonary alveolar:	n/a
47	chr21:45232587-45232637	AG09319	gingival:	n/a
48	chr21:45246308-45246358	NT2-D1	testis:	n/a
49	chr21:45222227-45222277	SKMC	muscle:	n/a
50	chr21:45213674-45213724	Hepatocyte	liver:	n/a

(count:134 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr21:45225840..45228634-chr21:45360679..45363193,2	K562	blood:
2	chr21:45233368..45235252-chr21:45401269..45403414,2	MCF-7	breast:
3	chr21:45249077..45249616-chr21:45337283..45338226,2	K562	blood:
4	chr21:45227143..45228681-chr21:45304105..45305818,2	K562	blood:
5	chr21:45233322..45236346-chr21:45283499..45286249,3	K562	blood:
6	chr21:45192905..45195528-chr21:45235425..45238416,2	MCF-7	breast:
7	chr21:45233511..45237736-chr21:45356519..45359137,5	K562	blood:
8	chr21:45224931..45227488-chr21:45343356..45345629,2	K562	blood:
9	chr21:45230726..45231265-chr21:45368758..45369723,2	K562	blood:
10	chr21:45227701..45229997-chr21:45280310..45283557,3	K562	blood:
11	chr21:45229004..45230702-chr21:45230841..45232657,2	MCF-7	breast:
12	chr21:45242806..45245083-chr21:45249324..45252265,2	MCF-7	breast:
13	chr21:45228402..45230320-chr21:45526070..45527844,2	MCF-7	breast:
14	chr21:45233457..45236060-chr21:45527747..45529523,2	MCF-7	breast:
15	chr21:45238343..45240639-chr21:45244780..45247104,2	MCF-7	breast:
16	chr21:45233269..45236576-chr21:45283514..45285914,3	MCF-7	breast:
17	chr21:45230337..45232483-chr21:45365596..45368025,2	K562	blood:
18	chr21:45231798..45234751-chr21:45247944..45249688,2	K562	blood:
19	chr21:45249509..45251897-chr21:45254038..45257016,3	K562	blood:
20	chr21:45243436..45244800-chr21:45358660..45359547,3	K562	blood:
21	chr21:45186409..45188413-chr21:45222813..45224847,2	MCF-7	breast:
22	chr21:45226367..45233141-chr21:45284145..45288607,11	K562	blood:
23	chr21:45230492..45230995-chr21:45487103..45487981,2	MCF-7	breast:
24	chr21:45230413..45233240-chr21:45552025..45554993,2	MCF-7	breast:
25	chr21:45217441..45220385-chr21:45229072..45230920,4	MCF-7	breast:
26	chr21:45230768..45231505-chr21:45337693..45338259,2	K562	blood:
27	chr21:45137509..45139216-chr21:45209353..45211646,2	K562	blood:
28	chr21:45230512..45231278-chr21:45558039..45558702,3	MCF-7	breast:
29	chr21:45209254..45211192-chr21:45228221..45230192,2	MCF-7	breast:
30	chr21:45223486..45226473-chr21:45348909..45351794,2	K562	blood:
31	chr21:45209429..45212325-chr21:45284308..45286024,2	MCF-7	breast:
32	chr21:45230580..45232122-chr21:45429937..45432486,2	K562	blood:
33	chr21:45227991..45230203-chr21:45396778..45398676,2	K562	blood:
34	chr21:45218283..45220995-chr21:45284329..45286052,2	MCF-7	breast:
35	chr21:45223265..45225321-chr21:45284150..45286190,2	K562	blood:
36	chr21:45235244..45235830-chr21:45358693..45359650,3	K562	blood:
37	chr21:45228592..45232844-chr21:45283509..45286625,5	MCF-7	breast:
38	chr21:45227383..45229683-chr21:45532546..45534512,2	K562	blood:
39	chr21:45209499..45211079-chr21:45211253..45212783,2	MCF-7	breast:
40	chr21:45216557..45218790-chr21:45430964..45433314,2	K562	blood:
41	chr21:45136618..45138870-chr21:45233345..45236189,2	MCF-7	breast:
42	chr21:45250176..45252507-chr21:45266082..45267987,2	MCF-7	breast:
43	chr21:45209190..45209944-chr21:45230362..45230868,2	K562	blood:
44	chr21:45238190..45239894-chr21:45283911..45285576,2	MCF-7	breast:
45	chr21:45147115..45149530-chr21:45227966..45229533,2	K562	blood:
46	chr21:45156182..45158069-chr21:45230385..45232004,2	K562	blood:
47	chr21:45230251..45231814-chr21:45414241..45416500,2	K562	blood:
48	chr21:45230314..45231521-chr21:45358032..45359692,17	K562	blood:
49	chr21:45238123..45243699-chr21:45249780..45254219,5	K562	blood:
50	chr21:45228584..45234568-chr21:45342221..45347972,7	K562	blood:

(count:20 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CSTB-1	chr21:45230112-45230378	XLOC_014107
2	lnc-CSTB-1	chr21:45230467-45230480	XLOC_014107
3	lnc-CSTB-1	chr21:45230112-45230212	ENSG00000215458.4
4	lnc-CSTB-2	chr21:45248787-45249070	NONHSAT082461
5	lnc-CSTB-1	chr21:45230112-45230404	XLOC_014107
6	lnc-CSTB-2	chr21:45248787-45249070	l_2228_chr21:45243513-45244760_testes
7	lnc-CSTB-1	chr21:45225639-45226469	ENSG00000215458.4
8	lnc-CSTB-1	chr21:45230112-45230315	XLOC_014107
9	lnc-CSTB-1	chr21:45225641-45226469	XLOC_014107
10	lnc-PDXK-2	chr21:45221462-45221835	expReg_chr21_1734_+
11	lnc-CSTB-1	chr21:45225403-45226469	XLOC_014107
12	lnc-CSTB-1	chr21:45220692-45223322	NONHSAT082453
13	lnc-CSTB-1	chr21:45230112-45230341	NONHSAT082453
14	lnc-CSTB-1	chr21:45228682-45229235	XLOC_014107
15	lnc-CSTB-2	chr21:45243550-45243999	NONHSAT082461
16	lnc-CSTB-2	chr21:45243514-45243999	l_2228_chr21:45243513-45244760_testes
17	lnc-CSTB-2	chr21:45244734-45244760	l_2228_chr21:45243513-45244760_testes
18	lnc-CSTB-1	chr21:45229089-45229235	XLOC_014107
19	lnc-CSTB-1	chr21:45224585-45226469	XLOC_014107
20	lnc-CSTB-1	chr21:45230112-45230242	XLOC_014107

No data

Variant related genes	Relation type
RRP1	TF binding region
ENSG00000215458	TF binding region
RRP1	CpG island
ENSG00000215458	CpG island
ENSG00000160207	chromatin interactions
ENSG00000160208	chromatin interactions
ENSG00000160209	chromatin interactions
ENSG00000160223	chromatin interactions
ENSG00000215458	chromatin interactions
ENSG00000160218	chromatin interactions
ENSG00000160221	chromatin interactions
ENSG00000226543	chromatin interactions
ENSG00000160214	chromatin interactions
ENSG00000160216	chromatin interactions
ENSG00000241945	chromatin interactions
ENSG00000234030	chromatin interactions
ENSG00000141959	chromatin interactions
ENSG00000160213	chromatin interactions
ENSG00000199598	chromatin interactions
ENSG00000252606	chromatin interactions
PXDN	miRNA target sites
SMCR8	miRNA target sites

Extended variants
information (count: 2289 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:2289 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2276246	chr21:45210932-45210933	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs534775913	chr21:45210942-45210943	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs553238947	chr21:45210969-45210970	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs191525490	chr21:45211012-45211013	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs564683130	chr21:45211013-45211014	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs372755340	chr21:45211029-45211030	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs531911019	chr21:45211039-45211040	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs57450235	chr21:45211055-45211056	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs568853179	chr21:45211056-45211057	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs545135584	chr21:45211124-45211125	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs148911424	chr21:45211128-45211129	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs547881862	chr21:45211148-45211149	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs566092364	chr21:45211149-45211150	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs533851072	chr21:45211157-45211158	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs374408957	chr21:45211185-45211186	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs114632703	chr21:45211240-45211241	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs201407956	chr21:45211298-45211299	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs201807546	chr21:45211320-45211321	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs556658191	chr21:45211327-45211328	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs376242382	chr21:45211341-45211342	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs574833026	chr21:45211342-45211343	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs372530967	chr21:45211347-45211348	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs374144513	chr21:45211351-45211352	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs535894442	chr21:45211374-45211375	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs554215846	chr21:45211400-45211401	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs76649170	chr21:45211405-45211406	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs572434281	chr21:45211406-45211407	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs143643505	chr21:45211446-45211447	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs563128859	chr21:45211448-45211449	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs564744554	chr21:45211454-45211455	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs3788072	chr21:45211476-45211477	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs561354382	chr21:45211479-45211480	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs367732504	chr21:45211481-45211482	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs151048596	chr21:45211524-45211525	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs368431241	chr21:45211546-45211547	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs562264962	chr21:45211559-45211560	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs1964982	chr21:45211607-45211608	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs529270754	chr21:45211664-45211665	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs559739583	chr21:45211670-45211671	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs527273094	chr21:45211674-45211675	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs181346363	chr21:45211675-45211676	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs186826020	chr21:45211687-45211688	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs146566789	chr21:45211705-45211706	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs2838364	chr21:45211716-45211717	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs533260830	chr21:45211717-45211718	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs190526659	chr21:45211728-45211729	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs2838365	chr21:45211731-45211732	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs139216184	chr21:45211740-45211741	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs572498376	chr21:45211749-45211750	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs373981244	chr21:45211768-45211769	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	5 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
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
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1309 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45208800-45211000	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr21:45209800-45211000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr21:45209800-45211000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr21:45209800-45211000	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr21:45209800-45211400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr21:45210000-45211000	Flanking Active TSS	Primary T cells from cord blood	blood
7	chr21:45210000-45211000	Enhancers	Spleen	Spleen
8	chr21:45210000-45211000	Flanking Active TSS	Dnd41	blood
9	chr21:45210000-45211000	Transcr. at gene 5' and 3'	NHEK	skin
10	chr21:45210000-45211200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr21:45210000-45211200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr21:45210000-45211200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr21:45210000-45211200	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr21:45210200-45211000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr21:45210200-45211000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr21:45210200-45211000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr21:45210200-45211000	Enhancers	Stomach Mucosa	stomach
18	chr21:45210200-45211000	Flanking Active TSS	Hela-S3	cervix
19	chr21:45210200-45211000	Transcr. at gene 5' and 3'	K562	blood
20	chr21:45210200-45211200	Enhancers	Primary B cells from peripheral blood	blood
21	chr21:45210200-45211200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr21:45210200-45212400	Weak transcription	Aorta	Aorta
23	chr21:45210400-45211000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr21:45210400-45211000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr21:45210400-45211000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr21:45210400-45211000	Enhancers	Primary hematopoietic stem cells	blood
27	chr21:45210400-45211000	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr21:45210400-45211000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr21:45210400-45211000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr21:45210400-45211000	Enhancers	Liver	Liver
31	chr21:45210400-45211000	Enhancers	Fetal Heart	heart
32	chr21:45210400-45211000	Enhancers	Fetal Lung	lung
33	chr21:45210400-45211000	Enhancers	Lung	lung
34	chr21:45210400-45211000	Enhancers	Right Atrium	heart
35	chr21:45210400-45211000	Enhancers	Thymus	Thymus
36	chr21:45210400-45211200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr21:45210400-45211200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr21:45210400-45211200	Enhancers	Brain Anterior Caudate	brain
39	chr21:45210400-45211200	Enhancers	Brain Substantia Nigra	brain
40	chr21:45210400-45211200	Enhancers	Esophagus	oesophagus
41	chr21:45210400-45211200	Enhancers	Fetal Brain Male	brain
42	chr21:45210400-45211200	Genic enhancers	Fetal Stomach	stomach
43	chr21:45210400-45211200	Flanking Active TSS	GM12878-XiMat	blood
44	chr21:45210400-45211400	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr21:45210400-45211400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr21:45210400-45211400	Weak transcription	Gastric	stomach
47	chr21:45210400-45211400	Enhancers	Pancreas	Pancrea
48	chr21:45210400-45211400	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr21:45210400-45211400	Enhancers	Small Intestine	intestine
50	chr21:45210400-45211800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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