Variant report

Variant	nsv587779
Chromosome Location	chr21:45720360-45750346
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1797)
CpG islands
(count:1588)
Chromatin interactive
region (count:62)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1797 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:45720380-45720411	HepG2	liver:	n/a	n/a
2	ARID3A	chr21:45723419-45723660	HepG2	liver:	n/a	n/a
3	ATF2	chr21:45748243-45748554	GM12878	blood:	n/a	n/a
4	ATF2	chr21:45748645-45749862	GM12878	blood:	n/a	n/a
5	BCL3	chr21:45749942-45750251	GM12878	blood:	n/a	n/a
6	BCL3	chr21:45730865-45731497	GM12878	blood:	n/a	n/a
7	BCL3	chr21:45748117-45748457	GM12878	blood:	n/a	n/a
8	BCL3	chr21:45748102-45750488	GM12878	blood:	n/a	chr21:45748793-45748802
9	BCL3	chr21:45748596-45749466	GM12878	blood:	n/a	chr21:45748793-45748802
10	BCL3	chr21:45750319-45750780	GM12878	blood:	n/a	n/a
11	BCL3	chr21:45748713-45749274	A549	lung:	n/a	chr21:45748793-45748802
12	BCL3	chr21:45736307-45736706	GM12878	blood:	n/a	n/a
13	BCL3	chr21:45730871-45731692	GM12878	blood:	n/a	n/a
14	BCL3	chr21:45736271-45736688	GM12878	blood:	n/a	n/a
15	BCLAF1	chr21:45748903-45749249	GM12878	blood:	n/a	n/a
16	BCLAF1	chr21:45748714-45749319	GM12878	blood:	n/a	chr21:45748793-45748802
17	BHLHE40	chr21:45722603-45722927	HepG2	liver:	n/a	n/a
18	BHLHE40	chr21:45721621-45721919	GM12878	blood:	n/a	chr21:45721742-45721751 chr21:45721741-45721750 chr21:45721741-45721750
19	BRCA1	chr21:45722612-45722693	HepG2	liver:	n/a	n/a
20	CCNT2	chr21:45748785-45749072	K562	blood:	n/a	n/a
21	CCNT2	chr21:45743603-45743620	K562	blood:	n/a	n/a
22	CCNT2	chr21:45749562-45750415	K562	blood:	n/a	chr21:45750270-45750279
23	CCNT2	chr21:45738035-45738079	K562	blood:	n/a	n/a
24	CCNT2	chr21:45719454-45720776	K562	blood:	n/a	n/a
25	CEBPB	chr21:45722601-45722970	HepG2	liver:	n/a	chr21:45722790-45722801
26	CEBPB	chr21:45722683-45722851	HepG2	liver:	n/a	chr21:45722790-45722801
27	CEBPB	chr21:45722596-45722970	HepG2	liver:	n/a	chr21:45722790-45722801
28	CEBPB	chr21:45722652-45722905	HepG2	liver:	n/a	chr21:45722790-45722801
29	CEBPB	chr21:45722646-45722910	Hela-S3	cervix:	n/a	chr21:45722790-45722801
30	CEBPB	chr21:45722498-45722869	MCF-7	breast:	n/a	chr21:45722790-45722801
31	CEBPB	chr21:45722647-45722851	K562	blood:	n/a	chr21:45722790-45722801
32	CEBPB	chr21:45727275-45727378	IMR90	lung:	n/a	n/a
33	CEBPD	chr21:45722641-45722851	HepG2	liver:	n/a	n/a
34	CEBPD	chr21:45720206-45720602	HepG2	liver:	n/a	n/a
35	CHD1	chr21:45719060-45720869	GM12878	blood:	n/a	chr21:45719200-45719207
36	CHD1	chr21:45720427-45720453	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD1	chr21:45719340-45720969	IMR90	lung:	n/a	n/a
38	CHD2	chr21:45720290-45720467	GM12878	blood:	n/a	n/a
39	CHD2	chr21:45720316-45720535	Hela-S3	cervix:	n/a	n/a
40	CHD2	chr21:45748710-45749364	GM12878	blood:	n/a	n/a
41	CHD2	chr21:45748158-45748171	HepG2	liver:	n/a	n/a
42	CHD2	chr21:45750222-45750493	K562	blood:	n/a	n/a
43	CHD2	chr21:45722579-45722685	HepG2	liver:	n/a	n/a
44	CHD2	chr21:45749212-45749320	HepG2	liver:	n/a	n/a
45	CHD2	chr21:45748401-45748494	GM12878	blood:	n/a	n/a
46	CHD2	chr21:45748915-45749090	K562	blood:	n/a	n/a
47	CHD2	chr21:45750246-45750431	HepG2	liver:	n/a	n/a
48	CHD2	chr21:45720347-45720430	HepG2	liver:	n/a	n/a
49	CHD2	chr21:45720714-45720770	K562	blood:	n/a	n/a
50	CREB1	chr21:45719347-45720933	HepG2	liver:	n/a	n/a

(count:1588 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45739921-45739971	HEEpiC	esophagus:	n/a
2	chr21:45739826-45739876	HL-60	blood:	n/a
3	chr21:45739921-45739971	HEEpiC	esophagus:	n/a
4	chr21:45739826-45739876	HL-60	blood:	n/a
5	chr21:45720651-45720701	HEK293	kidney:	embryo
6	chr21:45746856-45746906	BE2_C	brain:	n/a
7	chr21:45739826-45739876	RPTEC	kidney:	n/a
8	chr21:45744644-45744694	AoSMC	blood vessel:	n/a
9	chr21:45742747-45742797	NT2-D1	testis:	n/a
10	chr21:45744314-45744364	HNPCEpiC	eye:	n/a
11	chr21:45749343-45749393	HMEC	breast:	n/a
12	chr21:45734417-45734467	U87	brain:	n/a
13	chr21:45742747-45742797	HPAEpiC	pulmonary alveolar:	n/a
14	chr21:45741453-45741503	T-47D	breast:	n/a
15	chr21:45739921-45739971	HIPEpiC	eye:	n/a
16	chr21:45744725-45744775	SK-N-SH	brain:	n/a
17	chr21:45726274-45726324	Hepatocyte	liver:	n/a
18	chr21:45744644-45744694	MCF-7	breast:	n/a
19	chr21:45720651-45720701	HEEpiC	esophagus:	n/a
20	chr21:45730731-45730781	BE2_C	brain:	n/a
21	chr21:45744314-45744364	HMEC	breast:	n/a
22	chr21:45738152-45738202	HMEC	breast:	n/a
23	chr21:45730731-45730781	HepG2	liver:	n/a
24	chr21:45738152-45738202	HUVEC	blood vessel:	n/a
25	chr21:45730731-45730781	HAEpiC	amniotic membrane:	n/a
26	chr21:45742671-45742721	GM06990	blood:	n/a
27	chr21:45722771-45722821	AG09309	skin:	n/a
28	chr21:45742621-45742671	SK-N-SH_RA	brain:	n/a
29	chr21:45742671-45742721	AoSMC	blood vessel:	n/a
30	chr21:45722771-45722821	Hela-S3	cervix:	n/a
31	chr21:45726274-45726324	HIPEpiC	eye:	n/a
32	chr21:45742671-45742721	NHBE	bronchial:	n/a
33	chr21:45730224-45730274	HNPCEpiC	eye:	n/a
34	chr21:45741453-45741503	SK-N-SH_RA	brain:	n/a
35	chr21:45730236-45730286	Caco-2	colon:	n/a
36	chr21:45726274-45726324	NHDF-neo	bronchial:	n/a
37	chr21:45730224-45730274	AoSMC	blood vessel:	n/a
38	chr21:45722068-45722118	HCF	heart:	n/a
39	chr21:45730236-45730286	AG09319	gingival:	n/a
40	chr21:45741453-45741503	NHBE	bronchial:	n/a
41	chr21:45734417-45734467	HPAEpiC	pulmonary alveolar:	n/a
42	chr21:45744314-45744364	A549	lung:	n/a
43	chr21:45720651-45720701	U87	brain:	n/a
44	chr21:45738152-45738202	BE2_C	brain:	n/a
45	chr21:45720651-45720701	HRCEpiC	kidney:	n/a
46	chr21:45745105-45745155	HRCEpiC	kidney:	n/a
47	chr21:45729326-45729376	SK-N-SH_RA	brain:	n/a
48	chr21:45735791-45735841	NHBE	bronchial:	n/a
49	chr21:45742671-45742721	Jurkat	blood:	n/a
50	chr21:45730236-45730286	HEK293	kidney:	embryo

(count:62 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:45566230..45568537-chr21:45744712..45747553,2	K562	blood:
2	chr21:45727106..45728968-chr21:45756988..45759942,2	MCF-7	breast:
3	chr21:45556726..45571792-chr21:45714286..45731454,46	K562	blood:
4	chr21:45659357..45660947-chr21:45724270..45726623,2	MCF-7	breast:
5	chr11:93474471..93475047-chr21:45719657..45720548,2	Hela-S3	cervix:
6	chr21:45722493..45724362-chr21:45846453..45848482,2	K562	blood:
7	chr21:45365230..45367431-chr21:45724225..45727196,2	MCF-7	breast:
8	chr21:45527479..45530084-chr21:45730033..45733150,3	K562	blood:
9	chr21:45552294..45556513-chr21:45714520..45720755,9	K562	blood:
10	chr21:45692048..45693952-chr21:45722108..45724674,2	K562	blood:
11	chr21:45747059..45748898-chr21:45852124..45853647,2	MCF-7	breast:
12	chr21:45720013..45721648-chr21:45874354..45876678,2	MCF-7	breast:
13	chr12:106530538..106533489-chr21:45720993..45722584,2	MCF-7	breast:
14	chr21:45718752..45721154-chr21:46219831..46222611,2	K562	blood:
15	chr21:45625593..45629065-chr21:45717787..45720760,5	MCF-7	breast:
16	chr21:45720740..45724060-chr21:45730996..45734496,4	MCF-7	breast:
17	chr21:45723930..45726032-chr21:45737199..45740003,3	MCF-7	breast:
18	chr21:45551466..45554089-chr21:45749737..45751999,2	MCF-7	breast:
19	chr21:45554911..45556984-chr21:45748487..45750206,2	K562	blood:
20	chr21:45744755..45747310-chr21:45770895..45772522,2	K562	blood:
21	chr21:45577622..45580238-chr21:45720220..45722935,2	MCF-7	breast:
22	chr21:45723930..45726032-chr21:45737199..45740003,3	MCF-7	breast:
23	chr21:45620341..45625358-chr21:45718389..45721509,5	MCF-7	breast:
24	chr21:45561393..45564285-chr21:45746908..45749087,3	K562	blood:
25	chr21:45659877..45662375-chr21:45725683..45729445,4	MCF-7	breast:
26	chr16:20817694..20820008-chr21:45718937..45721716,2	MCF-7	breast:
27	chr21:45553434..45556418-chr21:45726154..45729058,2	K562	blood:
28	chr21:45720740..45724060-chr21:45730996..45734496,4	MCF-7	breast:
29	chr21:45719757..45722045-chr21:45874863..45877372,2	MCF-7	breast:
30	chr21:45722675..45723244-chr21:45907390..45907958,2	MCF-7	breast:
31	chr21:45658347..45670658-chr21:45718073..45723358,28	MCF-7	breast:
32	chr21:45726509..45728760-chr21:45732872..45734551,3	MCF-7	breast:
33	chr21:45621110..45623357-chr21:45726128..45727894,2	MCF-7	breast:
34	chr21:45553126..45555190-chr21:45725686..45728313,2	MCF-7	breast:
35	chr21:45721842..45725498-chr21:45743836..45746079,3	MCF-7	breast:
36	chr21:45431322..45434131-chr21:45718820..45721746,2	K562	blood:
37	chr11:833005..833656-chr21:45719773..45720543,2	Hela-S3	cervix:
38	chr21:45646929..45649762-chr21:45721151..45723519,2	MCF-7	breast:
39	chr21:45719852..45723806-chr21:45756512..45759776,5	MCF-7	breast:
40	chr21:45561454..45564242-chr21:45746295..45748408,3	K562	blood:
41	chr21:45722123..45722801-chr21:45929220..45929813,2	MCF-7	breast:
42	chr15:91475339..91476030-chr21:45719792..45720418,2	MCF-7	breast:
43	chr21:45664806..45667207-chr21:45731638..45734076,2	K562	blood:
44	chr21:45680895..45685107-chr21:45717932..45721130,4	MCF-7	breast:
45	chr21:45658941..45665769-chr21:45718013..45724632,19	MCF-7	breast:
46	chr21:45553392..45556076-chr21:45742947..45745160,2	K562	blood:
47	chr21:45566754..45568641-chr21:45735540..45737926,2	K562	blood:
48	chr21:45667662..45673123-chr21:45716367..45722484,9	MCF-7	breast:
49	chr21:45525653..45528591-chr21:45721337..45723172,3	MCF-7	breast:
50	chr21:45727055..45729484-chr21:45866946..45869178,2	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C21orf2-1	chr21:45748827-45749114	ENSG00000241728.1
2	lnc-C21orf2-1	chr21:45749514-45749702	ENSG00000241728.1
3	lnc-C21orf2-1	chr21:45748827-45749114	ENSG00000241728.1
4	lnc-AIRE-4	chr21:45728411-45728652	expReg_chr21_1781_+
5	lnc-C21orf2-1	chr21:45749514-45749929	ENSG00000241728.1
6	lnc-AIRE-3	chr21:45728027-45728408	expReg_chr21_1780_+
7	lnc-C21orf2-1	chr21:45749963-45750104	ENSG00000241728.1

No data

Variant related genes	Relation type
PFKL	TF binding region
ENSG00000184441	TF binding region
ENSG00000241728	TF binding region
ENSG00000255902	TF binding region
PFKL	CpG island
ENSG00000184441	CpG island
ENSG00000241728	CpG island
ENSG00000255902	CpG island
ENSG00000142182	chromatin interactions
ENSG00000232010	chromatin interactions
ENSG00000232124	chromatin interactions
ENSG00000160223	chromatin interactions
ENSG00000184508	chromatin interactions
ENSG00000182919	chromatin interactions
ENSG00000232969	chromatin interactions
ENSG00000160216	chromatin interactions
ENSG00000160224	chromatin interactions
ENSG00000166012	chromatin interactions
ENSG00000005189	chromatin interactions
ENSG00000236519	chromatin interactions
ENSG00000160218	chromatin interactions
ENSG00000141959	chromatin interactions
ENSG00000232698	chromatin interactions
ENSG00000176155	chromatin interactions
ENSG00000241945	chromatin interactions
ENSG00000160221	chromatin interactions
ENSG00000160233	chromatin interactions
ENSG00000177697	chromatin interactions
ENSG00000229356	chromatin interactions
ENSG00000196678	chromatin interactions
ENSG00000235890	chromatin interactions
ENSG00000160226	chromatin interactions
ENSG00000184787	chromatin interactions
ENSG00000225331	chromatin interactions

Extended variants
information (count: 1770 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:1770 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374839043	chr21:45720396-45720397	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
2	rs544180789	chr21:45720511-45720512	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
3	rs555467967	chr21:45720526-45720527	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
4	rs368003019	chr21:45720557-45720558	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
5	rs56295824	chr21:45720571-45720572	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs574864855	chr21:45720610-45720611	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
7	rs57169694	chr21:45720612-45720613	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
8	rs200356020	chr21:45720626-45720627	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
9	rs190788037	chr21:45720658-45720659	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
10	rs561088993	chr21:45720662-45720663	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
11	rs114163456	chr21:45720680-45720681	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
12	rs546882694	chr21:45720710-45720711	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
13	rs564895561	chr21:45720715-45720716	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
14	rs375469087	chr21:45720738-45720739	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
15	rs369828848	chr21:45720741-45720742	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
16	rs532171856	chr21:45720799-45720800	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
17	rs550533938	chr21:45720813-45720814	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
18	rs182154571	chr21:45720879-45720880	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
19	rs71322559	chr21:45720937-45720938	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
20	rs536298222	chr21:45720972-45720973	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
21	rs536874146	chr21:45720984-45720985	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
22	rs557212383	chr21:45720985-45720986	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
23	rs143547012	chr21:45720992-45720993	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
24	rs185891515	chr21:45721005-45721006	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
25	rs1893208	chr21:45721072-45721073	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs55877172	chr21:45721086-45721087	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
27	rs537887370	chr21:45721125-45721126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
28	rs113385924	chr21:45721185-45721186	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
29	rs2236669	chr21:45721192-45721193	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs9981255	chr21:45721208-45721209	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs7283094	chr21:45721235-45721236	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs573045700	chr21:45721236-45721237	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
33	rs576976558	chr21:45721276-45721277	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
34	rs111396035	chr21:45721329-45721330	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
35	rs58710846	chr21:45721332-45721333	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
36	rs66470336	chr21:45721342-45721343	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs530270634	chr21:45721343-45721344	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
38	rs7277792	chr21:45721360-45721361	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs2236670	chr21:45721468-45721469	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs545921819	chr21:45721506-45721507	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
41	rs529768779	chr21:45721508-45721509	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
42	rs111987113	chr21:45721517-45721518	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
43	rs548242554	chr21:45721547-45721548	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
44	rs566210638	chr21:45721585-45721586	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
45	rs9984426	chr21:45721596-45721597	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs9975988	chr21:45721624-45721625	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs570854338	chr21:45721629-45721630	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
48	rs538482241	chr21:45721638-45721639	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
49	rs9975994	chr21:45721648-45721649	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs9976073	chr21:45721710-45721711	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:105)

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
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
small cell lung cancer	17426248	CNVD
Ependymoma	20639864	CNVD
Breast cancer	21364760	CNVD
Down syndrome	21154855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Williams-beuren syndrome	16826523	CNVD

Chromatin state (count:1241 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45718800-45720800	Active TSS	GM12878-XiMat	blood
2	chr21:45719000-45720600	Active TSS	Brain Germinal Matrix	brain
3	chr21:45719000-45720800	Active TSS	Colon Smooth Muscle	Colon
4	chr21:45719000-45721000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr21:45719000-45721000	Active TSS	Fetal Brain Female	brain
6	chr21:45719200-45720400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr21:45719200-45720800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr21:45719200-45720800	Active TSS	Aorta	Aorta
9	chr21:45719200-45720800	Active TSS	Esophagus	oesophagus
10	chr21:45719200-45720800	Active TSS	Ovary	ovary
11	chr21:45719200-45720800	Active TSS	Right Atrium	heart
12	chr21:45719200-45721000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr21:45719200-45721000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:45719200-45721000	Active TSS	H9 Cell Line	embryonic stem cell
15	chr21:45719200-45721400	Active TSS	HSMM	muscle
16	chr21:45719400-45720600	Active TSS	H1 Cell Line	embryonic stem cell
17	chr21:45719400-45720600	Active TSS	Primary T cells from cord blood	blood
18	chr21:45719400-45720600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr21:45719400-45720600	Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr21:45719400-45720600	Active TSS	Brain Cingulate Gyrus	brain
21	chr21:45719400-45720600	Active TSS	Duodenum Mucosa	Duodenum
22	chr21:45719400-45720600	Active TSS	NH-A	brain
23	chr21:45719400-45720600	Active TSS	Osteobl	bone
24	chr21:45719400-45720800	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr21:45719400-45720800	Active TSS	Brain Angular Gyrus	brain
26	chr21:45719400-45720800	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr21:45719400-45720800	Active TSS	Fetal Intestine Large	intestine
28	chr21:45719400-45720800	Active TSS	Gastric	stomach
29	chr21:45719400-45720800	Active TSS	Left Ventricle	heart
30	chr21:45719400-45720800	Active TSS	Rectal Smooth Muscle	rectum
31	chr21:45719400-45720800	Active TSS	A549	lung
32	chr21:45719400-45721000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr21:45719400-45721000	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr21:45719400-45721000	Active TSS	Small Intestine	intestine
35	chr21:45719400-45721200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr21:45719400-45721200	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr21:45719400-45721200	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr21:45719400-45721200	Active TSS	NHDF-Ad	bronchial
39	chr21:45719400-45721400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr21:45719600-45720400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr21:45719600-45720600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr21:45719600-45720600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr21:45719600-45720600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr21:45719600-45720600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr21:45719600-45720600	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr21:45719600-45720600	Active TSS	Primary monocytes fromperipheralblood	blood
47	chr21:45719600-45720600	Active TSS	Primary B cells from peripheral blood	blood
48	chr21:45719600-45720600	Active TSS	Primary T cells fromperipheralblood	blood
49	chr21:45719600-45720600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr21:45719600-45720600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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