Variant report

Variant	nsv914056
Chromosome Location	chr21:46876083-46924785
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1559)
CpG islands
(count:2630)
Chromatin interactive
region (count:151)
LncRNA
region (count:13)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:1559 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:46898153-46898427	K562	blood:	n/a	n/a
2	ARID3A	chr21:46889563-46890145	HepG2	liver:	n/a	n/a
3	ARID3A	chr21:46891572-46891934	HepG2	liver:	n/a	n/a
4	ATF3	chr21:46898009-46898253	K562	blood:	n/a	n/a
5	BACH1	chr21:46880570-46880918	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr21:46880593-46880928	K562	blood:	n/a	n/a
7	BACH1	chr21:46898059-46898296	K562	blood:	n/a	n/a
8	BACH1	chr21:46897996-46898292	H1-hESC	embryonic stem cell:	n/a	n/a
9	BATF	chr21:46922663-46922984	GM12878	blood:	n/a	n/a
10	BATF	chr21:46922626-46922915	GM12878	blood:	n/a	n/a
11	BATF	chr21:46920282-46921034	GM12878	blood:	n/a	n/a
12	BATF	chr21:46920390-46921103	GM12878	blood:	n/a	n/a
13	BCL11A	chr21:46921510-46921832	GM12878	blood:	n/a	chr21:46921512-46921525
14	BCL11A	chr21:46890718-46891213	GM12878	blood:	n/a	n/a
15	BCL11A	chr21:46920329-46921051	GM12878	blood:	n/a	n/a
16	BCL11A	chr21:46920341-46921072	GM12878	blood:	n/a	n/a
17	BCL3	chr21:46915438-46916039	GM12878	blood:	n/a	n/a
18	BCL3	chr21:46899132-46899531	GM12878	blood:	n/a	n/a
19	BCLAF1	chr21:46890784-46891041	GM12878	blood:	n/a	n/a
20	BHLHE40	chr21:46892467-46892613	HepG2	liver:	n/a	n/a
21	BHLHE40	chr21:46890747-46891213	GM12878	blood:	n/a	n/a
22	BHLHE40	chr21:46921230-46921415	GM12878	blood:	n/a	n/a
23	BHLHE40	chr21:46891635-46892013	HepG2	liver:	n/a	n/a
24	BHLHE40	chr21:46889231-46890054	HepG2	liver:	n/a	n/a
25	BHLHE40	chr21:46898027-46898282	K562	blood:	n/a	n/a
26	BHLHE40	chr21:46920374-46921021	HepG2	liver:	n/a	n/a
27	BHLHE40	chr21:46892655-46892824	GM12878	blood:	n/a	n/a
28	BRCA1	chr21:46889845-46889957	HepG2	liver:	n/a	n/a
29	BRCA1	chr21:46898117-46898317	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr21:46891552-46891788	HepG2	liver:	n/a	n/a
31	CBX3	chr21:46897851-46898601	K562	blood:	n/a	n/a
32	CBX3	chr21:46920313-46920926	K562	blood:	n/a	n/a
33	CBX3	chr21:46920344-46921015	K562	blood:	n/a	n/a
34	CCNT2	chr21:46902970-46903168	K562	blood:	n/a	n/a
35	CCNT2	chr21:46902209-46902212	K562	blood:	n/a	n/a
36	CEBPB	chr21:46898116-46898402	IMR90	lung:	n/a	n/a
37	CEBPB	chr21:46898046-46898599	K562	blood:	n/a	chr21:46898401-46898412
38	CEBPB	chr21:46891590-46891968	HepG2	liver:	n/a	chr21:46891773-46891784
39	CEBPB	chr21:46891152-46891481	IMR90	lung:	n/a	n/a
40	CEBPB	chr21:46922825-46923094	A549	lung:	n/a	chr21:46922928-46922939
41	CEBPB	chr21:46898149-46898260	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr21:46891590-46892001	HepG2	liver:	n/a	chr21:46891773-46891784
43	CEBPB	chr21:46922851-46923051	K562	blood:	n/a	chr21:46922928-46922939
44	CEBPB	chr21:46891627-46891871	HepG2	liver:	n/a	chr21:46891773-46891784
45	CEBPB	chr21:46922749-46923103	IMR90	lung:	n/a	chr21:46922928-46922939
46	CEBPB	chr21:46891473-46892003	HepG2	liver:	n/a	chr21:46891773-46891784
47	CEBPB	chr21:46902260-46902266	K562	blood:	n/a	n/a
48	CEBPB	chr21:46922883-46923057	HepG2	liver:	n/a	chr21:46922928-46922939
49	CEBPD	chr21:46889515-46889725	HepG2	liver:	n/a	n/a
50	CEBPD	chr21:46889555-46889850	HepG2	liver:	n/a	n/a

(count:2630 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46890849-46890899	HL-60	blood:	n/a
2	chr21:46897181-46897231	SKMC	muscle:	n/a
3	chr21:46898764-46898814	Caco-2	colon:	n/a
4	chr21:46898764-46898814	HCPEpiC	choroid plexus:	n/a
5	chr21:46897181-46897231	GM12892	blood:	n/a
6	chr21:46891839-46891889	GM12892	blood:	n/a
7	chr21:46912506-46912556	ECC-1	luminal epithelium:	n/a
8	chr21:46890849-46890899	HL-60	blood:	n/a
9	chr21:46897181-46897231	SKMC	muscle:	n/a
10	chr21:46898764-46898814	Caco-2	colon:	n/a
11	chr21:46898764-46898814	HCPEpiC	choroid plexus:	n/a
12	chr21:46897181-46897231	GM12892	blood:	n/a
13	chr21:46891839-46891889	GM12892	blood:	n/a
14	chr21:46912506-46912556	ECC-1	luminal epithelium:	n/a
15	chr21:46910559-46910609	SKMC	muscle:	n/a
16	chr21:46893155-46893205	GM12891	blood:	n/a
17	chr21:46895422-46895472	GM12878	blood:	n/a
18	chr21:46912545-46912595	HCF	heart:	n/a
19	chr21:46900754-46900804	AoSMC	blood vessel:	n/a
20	chr21:46890907-46890957	ovcar-3	ovarian:	n/a
21	chr21:46918189-46918239	PFSK-1	brain:	n/a
22	chr21:46910559-46910609	HRE	kidney:	n/a
23	chr21:46912545-46912595	NH-A	brain:	n/a
24	chr21:46897181-46897231	T-47D	breast:	n/a
25	chr21:46898764-46898814	BJ	skin:	n/a
26	chr21:46876731-46876781	GM06990	blood:	n/a
27	chr21:46876731-46876781	SK-N-MC	brain:	n/a
28	chr21:46912423-46912473	HEK293	kidney:	embryo
29	chr21:46889296-46889346	ECC-1	luminal epithelium:	n/a
30	chr21:46891093-46891143	HCPEpiC	choroid plexus:	n/a
31	chr21:46898789-46898839	HEK293	kidney:	embryo
32	chr21:46901728-46901778	HCPEpiC	choroid plexus:	n/a
33	chr21:46912386-46912436	Jurkat	blood:	n/a
34	chr21:46876904-46876954	HCF	heart:	n/a
35	chr21:46890997-46891047	HRCEpiC	kidney:	n/a
36	chr21:46921982-46922032	AG10803	skin:	n/a
37	chr21:46898048-46898098	A549	lung:	n/a
38	chr21:46921982-46922032	BJ	skin:	n/a
39	chr21:46891839-46891889	GM12878	blood:	n/a
40	chr21:46898137-46898187	AG04450	lung:	fetal
41	chr21:46909229-46909279	IMR90	lung:	fetal
42	chr21:46921982-46922032	HCM	heart:	n/a
43	chr21:46897181-46897231	A549	lung:	n/a
44	chr21:46918393-46918443	BE2_C	brain:	n/a
45	chr21:46898610-46898660	ovcar-3	ovarian:	n/a
46	chr21:46890849-46890899	GM12878	blood:	n/a
47	chr21:46876904-46876954	BJ	skin:	n/a
48	chr21:46917565-46917615	HAEpiC	amniotic membrane:	n/a
49	chr21:46898610-46898660	SK-N-MC	brain:	n/a
50	chr21:46912423-46912473	NHBE	bronchial:	n/a

(count:151 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr21:46876629..46878808-chr21:46954301..46956325,2	MCF-7	breast:
2	chr21:46878521..46881227-chr21:46884366..46886401,3	MCF-7	breast:
3	chr21:46894763..46896679-chr21:46910680..46912377,2	K562	blood:
4	chr21:46897608..46898629-chr21:47240205..47241125,3	K562	blood:
5	chr21:46911207..46912777-chr21:46922362..46925263,2	K562	blood:
6	chr21:46898274..46900897-chr21:46915296..46918729,3	K562	blood:
7	chr21:46898274..46900897-chr21:46916173..46918729,2	K562	blood:
8	chr21:46902773..46904592-chr21:46946784..46949775,2	MCF-7	breast:
9	chr21:46891518..46893189-chr21:46910052..46911584,2	MCF-7	breast:
10	chr21:46595747..46597935-chr21:46877376..46878975,2	K562	blood:
11	chr21:46907126..46909663-chr21:46932910..46935713,2	MCF-7	breast:
12	chr21:46886469..46888654-chr21:46905872..46907665,2	MCF-7	breast:
13	chr21:46830376..46832624-chr21:46896929..46899496,3	K562	blood:
14	chr21:46900749..46902915-chr21:46902932..46904435,2	MCF-7	breast:
15	chr21:46869758..46871807-chr21:46892462..46894183,2	MCF-7	breast:
16	chr21:46878521..46881227-chr21:46884366..46886401,3	MCF-7	breast:
17	chr21:46896740..46898482-chr21:46902488..46904592,2	MCF-7	breast:
18	chr21:46893156..46895460-chr21:46914846..46917462,2	MCF-7	breast:
19	chr21:46889471..46891725-chr21:46901347..46903971,2	MCF-7	breast:
20	chr21:46912227..46915287-chr21:46915749..46919530,3	K562	blood:
21	chr21:46915108..46917774-chr21:46920687..46922720,5	K562	blood:
22	chr21:46889052..46891454-chr21:46915702..46917912,2	MCF-7	breast:
23	chr21:46888009..46889684-chr21:46894755..46896630,2	MCF-7	breast:
24	chr21:46887077..46888659-chr21:46889806..46891963,2	MCF-7	breast:
25	chr21:46883295..46885368-chr21:46892849..46894550,2	MCF-7	breast:
26	chr21:46863789..46864516-chr21:46897648..46898230,2	MCF-7	breast:
27	chr21:46895487..46898063-chr21:46960831..46963373,2	MCF-7	breast:
28	chr21:46895672..46900665-chr21:46900979..46909945,15	K562	blood:
29	chr21:46850154..46853223-chr21:46875562..46879101,3	MCF-7	breast:
30	chr21:46887077..46888659-chr21:46889806..46891963,2	MCF-7	breast:
31	chr21:46891046..46893403-chr21:46931204..46935437,4	MCF-7	breast:
32	chr21:46894763..46896679-chr21:46910680..46912377,2	K562	blood:
33	chr21:46885010..46886726-chr21:46889765..46891598,2	MCF-7	breast:
34	chr21:46897692..46900108-chr21:46960321..46963178,3	K562	blood:
35	chr21:46902941..46903779-chr7:27134949..27135843,2	NB4	blood:
36	chr21:46863098..46865222-chr21:46896487..46898859,2	K562	blood:
37	chr21:46881386..46884375-chr21:46884703..46886434,2	K562	blood:
38	chr21:46891833..46894369-chr21:46896586..46899393,2	MCF-7	breast:
39	chr21:46874922..46876910-chr21:46877464..46880044,2	K562	blood:
40	chr21:46916564..46919605-chr21:46931557..46935719,5	MCF-7	breast:
41	chr21:46556762..46557633-chr21:46898156..46898795,2	K562	blood:
42	chr21:46913618..46917774-chr21:46919696..46922720,5	K562	blood:
43	chr21:46494890..46496733-chr21:46901945..46904600,2	K562	blood:
44	chr19:2149910..2152771-chr21:46896335..46898616,2	MCF-7	breast:
45	chr21:46883443..46886184-chr21:46890178..46891779,2	MCF-7	breast:
46	chr21:46908080..46910421-chr21:46961759..46963775,3	K562	blood:
47	chr21:46906493..46908415-chr21:46910088..46911901,2	K562	blood:
48	chr21:46875633..46877749-chr21:46883136..46885233,2	MCF-7	breast:
49	chr21:46893878..46896207-chr21:46896670..46900293,4	K562	blood:
50	chr21:46907439..46910029-chr21:46915252..46917425,2	MCF-7	breast:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC19A1-4	chr21:46903719-46904008	NONHSAT082965
2	lnc-PCBP3-6	chr21:46897506-46897818	expReg_chr21_1994_+
3	lnc-PCBP3-5	chr21:46903999-46904660	NONHSAT082964
4	lnc-PCBP3-5	chr21:46904181-46904660	NONHSAT082963
5	lnc-PCBP3-5	chr21:46903719-46903843	NONHSAT082963
6	lnc-PCBP3-5	chr21:46903999-46904118	NONHSAT082963
7	lnc-SLC19A1-4	chr21:46904222-46904660	NONHSAT082962
8	lnc-PCBP3-5	chr21:46903719-46903907	NONHSAT082964
9	lnc-SLC19A1-4	chr21:46903719-46904008	NONHSAT082962
10	lnc-SLC19A1-4	chr21:46904119-46904660	NONHSAT082965
11	lnc-SLC19A1-4	chr21:46904119-46904155	NONHSAT082962
12	lnc-POFUT2-4	chr21:46923847-46924035	NONHSAT082966
13	lnc-POFUT2-4	chr21:46922427-46922883	NONHSAT082966

miRNA name	Chromosome Location	mirBase accession
hsa-miR-6815-3p	chr21:46898220-46898240	MIMAT0027531
hsa-miR-6815-5p	chr21:46898185-46898207	MIMAT0027530

No data

Variant related genes	Relation type
SLC19A1	TF binding region
COL18A1	TF binding region
SLC19A1	CpG island
COL18A1	CpG island
ENSG00000233429	chromatin interactions
ENSG00000235374	chromatin interactions
ENSG00000224574	chromatin interactions
ENSG00000223768	chromatin interactions
ENSG00000173638	chromatin interactions
ENSG00000186866	chromatin interactions
ENSG00000197381	chromatin interactions
ENSG00000105991	chromatin interactions
ENSG00000215447	chromatin interactions
ENSG00000065000	chromatin interactions
ENSG00000228355	chromatin interactions
ENSG00000182871	chromatin interactions

Extended variants
information (count: 3403 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:3403 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2236451	chr21:46876083-46876084	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs533453650	chr21:46876109-46876110	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs185215745	chr21:46876110-46876111	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs200930983	chr21:46876138-46876139	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs189589098	chr21:46876156-46876157	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs537362206	chr21:46876164-46876165	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs2236452	chr21:46876173-46876174	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs181274677	chr21:46876177-46876178	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs534367236	chr21:46876183-46876184	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs552922627	chr21:46876190-46876191	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs577697894	chr21:46876191-46876192	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs538715485	chr21:46876204-46876205	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs557208339	chr21:46876205-46876206	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs374441004	chr21:46876212-46876213	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs542947545	chr21:46876213-46876214	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs561076797	chr21:46876216-46876217	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs573085272	chr21:46876217-46876218	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs376644375	chr21:46876222-46876223	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs78240331	chr21:46876226-46876227	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs559679925	chr21:46876271-46876272	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs533274673	chr21:46876281-46876282	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs557847592	chr21:46876282-46876283	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs11702494	chr21:46876306-46876307	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs563547981	chr21:46876309-46876310	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs185291015	chr21:46876321-46876322	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs549161026	chr21:46876348-46876349	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs76871966	chr21:46876351-46876352	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs567903603	chr21:46876426-46876427	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs373848921	chr21:46876437-46876438	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs546307332	chr21:46876438-46876439	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs368730604	chr21:46876443-46876444	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs191134578	chr21:46876476-46876477	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs557050550	chr21:46876477-46876478	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs575408648	chr21:46876479-46876480	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs536492922	chr21:46876485-46876486	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs554736377	chr21:46876531-46876532	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs573085907	chr21:46876548-46876549	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs540495854	chr21:46876559-46876560	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs528991245	chr21:46876561-46876562	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs559500998	chr21:46876562-46876563	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs8133886	chr21:46876580-46876581	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs114463382	chr21:46876619-46876620	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs563486566	chr21:46876647-46876648	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs141363853	chr21:46876654-46876655	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs549345311	chr21:46876658-46876659	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs58491986	chr21:46876669-46876670	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs528804587	chr21:46876698-46876699	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs547231568	chr21:46876708-46876709	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs60098805	chr21:46876716-46876717	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs77180157	chr21:46876717-46876718	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 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
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
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
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
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17237825	CNVD
Cancer	20164919	CNVD
Lung cancer	21203850	CNVD
Ependymoma	20639864	CNVD
Acute myeloid leukemia	19651600	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:1848 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46859800-46880000	Weak transcription	HUVEC	blood vessel
2	chr21:46860000-46888200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr21:46862000-46887600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr21:46866600-46880000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr21:46868600-46881600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr21:46873000-46879600	Weak transcription	A549	lung
7	chr21:46873000-46879800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr21:46873200-46876200	Enhancers	HMEC	breast
9	chr21:46873200-46876200	Enhancers	HSMM	muscle
10	chr21:46873200-46876400	Enhancers	Fetal Heart	heart
11	chr21:46873400-46879800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr21:46873400-46880600	Weak transcription	K562	blood
13	chr21:46873400-46880800	Weak transcription	Fetal Kidney	kidney
14	chr21:46873400-46881600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr21:46873800-46876400	Bivalent Enhancer	Placenta	Placenta
16	chr21:46874200-46876400	Enhancers	Ovary	ovary
17	chr21:46874400-46876200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr21:46874600-46876200	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr21:46874600-46876400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr21:46874600-46877000	Weak transcription	Gastric	stomach
21	chr21:46874800-46876200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr21:46874800-46876200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr21:46874800-46879400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr21:46875000-46876200	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr21:46875000-46876200	Active TSS	Right Atrium	heart
26	chr21:46875200-46876200	Flanking Active TSS	Fetal Muscle Leg	muscle
27	chr21:46875200-46877000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr21:46875200-46877000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
29	chr21:46875200-46877200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr21:46875200-46877800	Active TSS	Colon Smooth Muscle	Colon
31	chr21:46875200-46877800	Active TSS	Rectal Smooth Muscle	rectum
32	chr21:46875400-46876200	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr21:46875400-46876200	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr21:46875400-46876200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
35	chr21:46875400-46876400	Flanking Active TSS	Esophagus	oesophagus
36	chr21:46875400-46877000	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr21:46875400-46877000	Active TSS	Liver	Liver
38	chr21:46875400-46877400	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr21:46875400-46879200	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr21:46875400-46880400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr21:46875600-46876800	Active TSS	Stomach Smooth Muscle	stomach
42	chr21:46875600-46877200	Weak transcription	HepG2	liver
43	chr21:46875600-46878600	Active TSS	Brain Substantia Nigra	brain
44	chr21:46875600-46880000	Weak transcription	NHDF-Ad	bronchial
45	chr21:46875600-46881400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr21:46875800-46876200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr21:46875800-46876200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr21:46875800-46876200	Genic enhancers	Fetal Stomach	stomach
49	chr21:46875800-46876400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr21:46875800-46876400	Bivalent/Poised TSS	Colonic Mucosa	Colon

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