Variant report

Variant	rs747439
Chromosome Location	chr21:47740905-47740906
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PML	chr21:47740249-47740907	K562	blood:	n/a	n/a
2	TRIM28	chr21:47740042-47741066	K562	blood:	n/a	n/a
3	ZNF384	chr21:47739824-47741810	K562	blood:	n/a	n/a
4	CEBPD	chr21:47740249-47741065	K562	blood:	n/a	n/a
5	POLR2A	chr21:47740372-47741164	U87	brain:	n/a	n/a
6	NR2F2	chr21:47740097-47740970	K562	blood:	n/a	n/a
7	POLR2A	chr21:47736947-47745446	HepG2	liver:	n/a	n/a
8	IRF1	chr21:47740227-47740983	K562	blood:	n/a	n/a
9	E2F4	chr21:47740856-47741056	MCF10A-Er-Src	breast:	n/a	n/a
10	RFX5	chr21:47740428-47741068	K562	blood:	n/a	n/a
11	MAX	chr21:47740281-47740965	K562	blood:	n/a	n/a
12	POLR2A	chr21:47740336-47741073	K562	blood:	n/a	n/a
13	IRF1	chr21:47740362-47740937	K562	blood:	n/a	n/a
14	POLR2A	chr21:47736556-47745784	GM12891	blood:	n/a	n/a
15	MYC	chr21:47740352-47740940	K562	blood:	n/a	n/a
16	ZC3H11A	chr21:47740334-47740995	K562	blood:	n/a	n/a
17	POLR2A	chr21:47740122-47745497	GM12878	blood:	n/a	n/a
18	EP300	chr21:47740166-47741000	K562	blood:	n/a	n/a
19	IRF1	chr21:47740304-47741010	K562	blood:	n/a	n/a
20	CEBPD	chr21:47740159-47740949	K562	blood:	n/a	n/a
21	POLR2A	chr21:47740777-47741059	MCF10A-Er-Src	breast:	n/a	n/a
22	SMARCA4	chr21:47740317-47740944	K562	blood:	n/a	n/a
23	POLR2A	chr21:47736464-47744802	K562	blood:	n/a	n/a
24	NR2F2	chr21:47739703-47741116	K562	blood:	n/a	n/a
25	GATA1	chr21:47740015-47746721	K562	blood:	n/a	chr21:47742308-47742316 chr21:47740336-47740344
26	POLR2A	chr21:47740312-47740908	GM12892	blood:	n/a	n/a
27	PML	chr21:47740177-47740983	K562	blood:	n/a	n/a
28	TAL1	chr21:47740153-47740989	K562	blood:	n/a	n/a
29	POLR2A	chr21:47740433-47740949	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr21:47737657-47744434	PFSK-1	brain:	n/a	n/a
31	POLR2A	chr21:47740432-47740994	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr21:47740391-47741034	HepG2	liver:	n/a	n/a
33	TEAD4	chr21:47739841-47740998	K562	blood:	n/a	n/a
34	POLR2A	chr21:47739839-47741798	K562	blood:	n/a	n/a
35	STAT5A	chr21:47740121-47740957	K562	blood:	n/a	n/a
36	TEAD4	chr21:47739923-47740999	K562	blood:	n/a	n/a
37	POLR2A	chr21:47739944-47745763	PBDE	blood:	n/a	n/a
38	POLR2A	chr21:47740325-47741810	HepG2	liver:	n/a	n/a
39	RCOR1	chr21:47740182-47740925	K562	blood:	n/a	n/a
40	POLR2A	chr21:47740322-47741812	U87	brain:	n/a	n/a
41	POLR2A	chr21:47740744-47740928	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr21:47739641-47745736	SK-N-MC	brain:	n/a	n/a
43	GATA1	chr21:47739829-47741710	PBDE	blood:	n/a	chr21:47740336-47740344
44	MXI1	chr21:47740341-47740976	K562	blood:	n/a	n/a
45	POLR2A	chr21:47740218-47742071	K562	blood:	n/a	n/a
46	ZNF274	chr21:47740254-47741176	K562	blood:	n/a	n/a
47	POLR2A	chr21:47739866-47745534	K562	blood:	n/a	n/a
48	TBL1XR1	chr21:47740203-47740929	K562	blood:	n/a	n/a
49	ZMIZ1	chr21:47740177-47740948	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:47740892-47740942	CMK	blood:	n/a
2	chr21:47740892-47740942	AG09309	skin:	n/a
3	chr21:47740892-47740942	HRPEpiC	eye:	n/a
4	chr21:47740892-47740942	T-47D	breast:	n/a
5	chr21:47740892-47740942	ovcar-3	ovarian:	n/a
6	chr21:47740892-47740942	SK-N-SH	brain:	n/a
7	chr21:47740892-47740942	SK-N-MC	brain:	n/a
8	chr21:47740892-47740942	NB4	blood:	n/a
9	chr21:47740892-47740942	GM19239	blood:	n/a
10	chr21:47740892-47740942	AG09319	gingival:	n/a
11	chr21:47740892-47740942	RPTEC	kidney:	n/a
12	chr21:47740892-47740942	HEK293	kidney:	embryo
13	chr21:47740892-47740942	SK-N-SH_RA	brain:	n/a
14	chr21:47740892-47740942	AG04450	lung:	fetal
15	chr21:47740892-47740942	NT2-D1	testis:	n/a
16	chr21:47740892-47740942	PANC-1	pancreas:	n/a
17	chr21:47740892-47740942	HCF	heart:	n/a
18	chr21:47740892-47740942	PFSK-1	brain:	n/a
19	chr21:47740892-47740942	HL-60	blood:	n/a
20	chr21:47740892-47740942	Hepatocyte	liver:	n/a
21	chr21:47740892-47740942	Hela-S3	cervix:	n/a
22	chr21:47740892-47740942	MCF10A-Er-Src	breast:	n/a
23	chr21:47740892-47740942	NHBE	bronchial:	n/a
24	chr21:47740892-47740942	NHDF-neo	bronchial:	n/a
25	chr21:47740892-47740942	Caco-2	colon:	n/a
26	chr21:47740892-47740942	Jurkat	blood:	n/a
27	chr21:47740892-47740942	K562	blood:	n/a
28	chr21:47740892-47740942	HMEC	breast:	n/a
29	chr21:47740892-47740942	AG10803	skin:	n/a
30	chr21:47740892-47740942	LNCaP	prostate:	n/a
31	chr21:47740892-47740942	HRCEpiC	kidney:	n/a
32	chr21:47740892-47740942	GM12891	blood:	n/a
33	chr21:47740892-47740942	PrEC	prostate:	n/a
34	chr21:47740892-47740942	HAEpiC	amniotic membrane:	n/a
35	chr21:47740892-47740942	H1-hESC	embryonic stem cell:	embryo
36	chr21:47740892-47740942	HCT-116	colon:	n/a
37	chr21:47740892-47740942	HUVEC	blood vessel:	n/a
38	chr21:47740892-47740942	SKMC	muscle:	n/a
39	chr21:47740892-47740942	ProgFib	skin:	n/a
40	chr21:47740892-47740942	HRE	kidney:	n/a
41	chr21:47740892-47740942	BJ	skin:	n/a
42	chr21:47740892-47740942	HIPEpiC	eye:	n/a
43	chr21:47740892-47740942	HepG2	liver:	n/a
44	chr21:47740892-47740942	GM12878	blood:	n/a
45	chr21:47740892-47740942	AoSMC	blood vessel:	n/a
46	chr21:47740892-47740942	IMR90	lung:	fetal
47	chr21:47740892-47740942	HCPEpiC	choroid plexus:	n/a
48	chr21:47740892-47740942	SAEC	small airway:	n/a
49	chr21:47740892-47740942	HCM	heart:	n/a
50	chr21:47740892-47740942	A549	lung:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47740893..47743470-chr21:47833748..47835683,2	MCF-7	breast:
2	chr21:47647133..47651621-chr21:47740452..47747290,19	K562	blood:
3	chr21:47700722..47725192-chr21:47732201..47746452,77	K562	blood:
4	chr21:47701944..47708797-chr21:47740125..47746082,20	MCF-7	breast:
5	chr21:47740603..47742820-chr21:47877122..47879143,2	K562	blood:
6	chr21:47568849..47571798-chr21:47740603..47742834,2	K562	blood:
7	chr21:47685253..47687082-chr21:47738865..47741678,2	K562	blood:
8	chr21:47702524..47712328-chr21:47732975..47746274,46	K562	blood:

No data

Variant related genes	Relation type
C21orf58	TF binding region
PCNT	TF binding region
PCNT	CpG island
C21orf58	CpG island
ENSG00000160294	Chromatin interaction
ENSG00000237338	Chromatin interaction
ENSG00000160285	Chromatin interaction
ENSG00000215424	Chromatin interaction
ENSG00000182362	Chromatin interaction
ENSG00000160305	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10470249	1.00[ASN][1000 genomes]
rs11909543	1.00[ASN][1000 genomes]
rs11910988	1.00[ASN][1000 genomes]
rs11911263	0.80[EUR][1000 genomes]
rs1556338	1.00[ASN][1000 genomes]
rs16978976	1.00[ASN][1000 genomes]
rs16979065	0.85[AFR][1000 genomes]
rs16979254	0.81[CEU][hapmap];1.00[ASN][1000 genomes]
rs17293390	1.00[ASN][1000 genomes]
rs2839151	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs2839165	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs2839219	1.00[ASN][1000 genomes]
rs2839252	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs2839264	1.00[ASN][1000 genomes]
rs2839266	1.00[ASN][1000 genomes]
rs34984641	1.00[ASN][1000 genomes]
rs4365550	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs4438580	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs55808731	1.00[ASN][1000 genomes]
rs55819909	1.00[ASN][1000 genomes]
rs56034615	1.00[ASN][1000 genomes]
rs56083834	1.00[ASN][1000 genomes]
rs56127585	1.00[ASN][1000 genomes]
rs56317629	1.00[ASN][1000 genomes]
rs56333186	1.00[ASN][1000 genomes]
rs56350296	1.00[ASN][1000 genomes]
rs56376803	1.00[ASN][1000 genomes]
rs58201958	1.00[ASN][1000 genomes]
rs58861127	1.00[ASN][1000 genomes]
rs61140994	1.00[ASN][1000 genomes]
rs7281816	0.82[CEU][hapmap]
rs7283507	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs73144714	1.00[ASN][1000 genomes]
rs73144730	1.00[ASN][1000 genomes]
rs73144732	1.00[ASN][1000 genomes]
rs73144734	1.00[ASN][1000 genomes]
rs73144744	1.00[ASN][1000 genomes]
rs73144798	1.00[ASN][1000 genomes]
rs73146707	1.00[ASN][1000 genomes]
rs73146709	1.00[ASN][1000 genomes]
rs73146739	1.00[ASN][1000 genomes]
rs73148704	1.00[ASN][1000 genomes]
rs8126854	0.81[CEU][hapmap]
rs8127800	1.00[ASN][1000 genomes]
rs8133508	1.00[ASN][1000 genomes]
rs8134429	1.00[ASN][1000 genomes]
rs9647242	1.00[ASN][1000 genomes]
rs9647243	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
2	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
3	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
4	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
5	nsv1065959	chr21:47188878-48091343	Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	n/a
6	nsv531580	chr21:47221774-48090317	Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	n/a
7	nsv918103	chr21:47297067-48089510	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	n/a
8	nsv869002	chr21:47297268-47963186	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	n/a
9	nsv470910	chr21:47353775-48084988	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
10	nsv1059118	chr21:47398331-48090457	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
11	nsv544494	chr21:47398331-48090457	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
12	nsv934264	chr21:47401083-48090317	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
13	nsv1060978	chr21:47488073-47833640	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	n/a
14	nsv519904	chr21:47583506-47881309	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
15	nsv948761	chr21:47587940-48069930	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	n/a
16	nsv1055239	chr21:47591378-48090317	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
17	nsv544495	chr21:47591378-48090317	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
18	nsv933354	chr21:47609029-47851401	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
19	nsv949706	chr21:47625544-48069930	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
20	nsv529496	chr21:47634193-48090317	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
21	nsv587975	chr21:47661235-47830843	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	n/a
22	nsv432159	chr21:47673247-47854392	Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	n/a
23	nsv527355	chr21:47678774-47863025	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	n/a
24	nsv914135	chr21:47681041-47762374	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	n/a
25	nsv914136	chr21:47681041-47900994	Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	n/a
26	nsv1064588	chr21:47700051-47788823	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	n/a
27	nsv544496	chr21:47700051-47788823	Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	n/a
28	nsv914137	chr21:47700498-47862624	Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	n/a
29	nsv914138	chr21:47700498-47866227	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	n/a
30	nsv914139	chr21:47706737-47786494	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
31	nsv914140	chr21:47712185-47866227	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	n/a
32	nsv914141	chr21:47712412-47757419	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs747439	SPATC1L	cis	Thyroid	GTEx
rs747439	C21orf57	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47718200-47742000	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr21:47718200-47742200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr21:47718400-47741600	Weak transcription	Fetal Brain Male	brain
4	chr21:47718400-47742200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr21:47718400-47742200	Weak transcription	Right Atrium	heart
6	chr21:47722400-47742000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr21:47722400-47742200	Weak transcription	Gastric	stomach
8	chr21:47725000-47742200	Weak transcription	Adipose Nuclei	Adipose
9	chr21:47725000-47742200	Weak transcription	Brain Hippocampus Middle	brain
10	chr21:47725000-47742200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr21:47725000-47742400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr21:47725200-47741200	Weak transcription	Fetal Kidney	kidney
13	chr21:47725200-47741200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr21:47725200-47741400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr21:47725200-47742000	Weak transcription	Ovary	ovary
16	chr21:47725200-47742200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr21:47725200-47742600	Weak transcription	Brain Substantia Nigra	brain
18	chr21:47725400-47741200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr21:47728000-47741000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr21:47728000-47741200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr21:47728000-47742200	Weak transcription	Brain Anterior Caudate	brain
22	chr21:47735200-47741200	Weak transcription	A549	lung
23	chr21:47735600-47742200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr21:47736000-47741400	Weak transcription	HMEC	breast
25	chr21:47736000-47741600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr21:47736000-47741600	Weak transcription	Esophagus	oesophagus
27	chr21:47737400-47741400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr21:47738200-47742400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr21:47738400-47742200	Weak transcription	Lung	lung
30	chr21:47738600-47741200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr21:47738600-47741200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr21:47738600-47742000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr21:47738600-47742000	Weak transcription	Colonic Mucosa	Colon
34	chr21:47738600-47742200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr21:47738800-47741200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr21:47738800-47741400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr21:47738800-47741400	Weak transcription	Fetal Intestine Large	intestine
38	chr21:47738800-47742200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr21:47739000-47741400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr21:47739000-47741600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr21:47739000-47742400	Weak transcription	Left Ventricle	heart
42	chr21:47739200-47741200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr21:47739200-47741800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr21:47739200-47742000	Weak transcription	Right Ventricle	heart
45	chr21:47739200-47742200	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr21:47739400-47741200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr21:47739400-47741400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr21:47739400-47741400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr21:47739400-47741400	Weak transcription	Pancreas	Pancrea
50	chr21:47739400-47742000	Weak transcription	Placenta	Placenta

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