Variant report

Variant	rs1893208
Chromosome Location	chr21:45721072-45721073
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr21:45721060-45721210	HBMEC	blood vessel:	n/a	chr21:45721125-45721143
2	CTCF	chr21:45721000-45721150	HUVEC	blood vessel:	n/a	chr21:45721125-45721143
3	MTA3	chr21:45720323-45721096	GM12878	blood:	n/a	n/a
4	WRNIP1	chr21:45720736-45721131	GM12878	blood:	n/a	n/a
5	CTCF	chr21:45720980-45721130	HUVEC	blood vessel:	n/a	n/a
6	CTCF	chr21:45721037-45721212	GM12891	blood:	n/a	chr21:45721125-45721143
7	POLR2A	chr21:45721053-45721154	GM12878	blood:	n/a	n/a
8	POLR2A	chr21:45719257-45721090	IMR90	lung:	n/a	n/a
9	POLR2A	chr21:45719122-45722784	HL-60	blood:	n/a	n/a
10	POLR2A	chr21:45720863-45721165	GM12878	blood:	n/a	n/a
11	MXI1	chr21:45719140-45721380	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr21:45720978-45722862	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr21:45720943-45721243	K562	blood:	n/a	n/a
14	CTCF	chr21:45721040-45721190	GM06990	blood:	n/a	chr21:45721125-45721143
15	POLR2A	chr21:45719209-45722900	K562	blood:	n/a	n/a
16	CTCF	chr21:45721040-45721190	BJ	skin:	n/a	chr21:45721125-45721143
17	CTCF	chr21:45721020-45721170	RPTEC	kidney:	n/a	chr21:45721125-45721143
18	POLR2A	chr21:45721030-45721307	GM12878	blood:	n/a	n/a
19	CTCF	chr21:45721060-45721210	HepG2	liver:	n/a	chr21:45721125-45721143
20	MXI1	chr21:45718984-45721160	GM12878	blood:	n/a	n/a
21	HEY1	chr21:45720968-45721409	K562	blood:	n/a	n/a
22	CTCF	chr21:45721060-45721210	GM12874	blood:	n/a	chr21:45721125-45721143
23	POLR2A	chr21:45718977-45721192	K562	blood:	n/a	n/a
24	POLR2A	chr21:45718604-45723935	HepG2	liver:	n/a	n/a
25	CTCF	chr21:45721040-45721190	HCPEpiC	choroid plexus:	n/a	chr21:45721125-45721143
26	CTCF	chr21:45721060-45721210	WERI-Rb-1	eye:	n/a	chr21:45721125-45721143
27	CTCF	chr21:45721049-45721251	H1-hESC	embryonic stem cell:	n/a	chr21:45721125-45721143
28	MAX	chr21:45719245-45721298	HepG2	liver:	n/a	chr21:45719741-45719751 chr21:45720507-45720517 chr21:45720074-45720084
29	CTCF	chr21:45721063-45721153	HepG2	liver:	n/a	chr21:45721125-45721143
30	CTCF	chr21:45721020-45721170	SAEC	small airway:	n/a	chr21:45721125-45721143
31	MXI1	chr21:45718921-45721359	IMR90	lung:	n/a	n/a
32	CTCF	chr21:45721060-45721210	SK-N-SH_RA	brain:	n/a	chr21:45721125-45721143
33	CTCF	chr21:45721000-45721150	AG09319	gingival:	n/a	chr21:45721125-45721143
34	CTCF	chr21:45721040-45721190	GM12866	blood:	n/a	chr21:45721125-45721143
35	CTCF	chr21:45721064-45721203	H1-hESC	embryonic stem cell:	n/a	chr21:45721125-45721143
36	POLR2A	chr21:45720955-45721475	GM12892	blood:	n/a	n/a
37	CTCF	chr21:45721072-45721145	GM19239	blood:	n/a	chr21:45721125-45721143
38	POLR2A	chr21:45718933-45721460	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr21:45721040-45721190	HRPEpiC	eye:	n/a	chr21:45721125-45721143
40	CTCF	chr21:45721055-45721208	GM19238	blood:	n/a	chr21:45721125-45721143
41	CTCF	chr21:45721040-45721246	GM12878	blood:	n/a	chr21:45721125-45721143
42	CTCF	chr21:45720980-45721130	GM12873	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:45549496..45557767-chr21:45717764..45723476,12	K562	blood:
2	chr21:45667662..45673123-chr21:45716367..45722484,9	MCF-7	breast:
3	chr21:45718752..45721154-chr21:46219831..46222611,2	K562	blood:
4	chr21:45658941..45665769-chr21:45718013..45724632,19	MCF-7	breast:
5	chr21:45719368..45721922-chr21:45924862..45927430,2	MCF-7	breast:
6	chr21:45720013..45721648-chr21:45874354..45876678,2	MCF-7	breast:
7	chr21:45719757..45722045-chr21:45874863..45877372,2	MCF-7	breast:
8	chr16:20817694..20820008-chr21:45718937..45721716,2	MCF-7	breast:
9	chr21:45524250..45528671-chr21:45720289..45724952,5	MCF-7	breast:
10	chr21:45577622..45580238-chr21:45720220..45722935,2	MCF-7	breast:
11	chr21:45703655..45709073-chr21:45718662..45721905,6	MCF-7	breast:
12	chr21:45658347..45670658-chr21:45718073..45723358,28	MCF-7	breast:
13	chr21:45551834..45580791-chr21:45711953..45732193,97	MCF-7	breast:
14	chr21:45680895..45685107-chr21:45717932..45721130,4	MCF-7	breast:
15	chr21:45720740..45724060-chr21:45730996..45734496,4	MCF-7	breast:
16	chr21:45644616..45646347-chr21:45720653..45723440,2	MCF-7	breast:
17	chr21:45551760..45557176-chr21:45717626..45723007,13	MCF-7	breast:
18	chr21:45620341..45625358-chr21:45718389..45721509,5	MCF-7	breast:
19	chr21:45719852..45723806-chr21:45756512..45759776,5	MCF-7	breast:
20	chr12:106530538..106533489-chr21:45720993..45722584,2	MCF-7	breast:
21	chr21:45556726..45571792-chr21:45714286..45731454,46	K562	blood:
22	chr21:45431322..45434131-chr21:45718820..45721746,2	K562	blood:

Variant related genes	Relation type
PFKL	TF binding region
ENSG00000229356	Chromatin interaction
ENSG00000232124	Chromatin interaction
ENSG00000160218	Chromatin interaction
ENSG00000160221	Chromatin interaction
ENSG00000232010	Chromatin interaction
ENSG00000184787	Chromatin interaction
ENSG00000142182	Chromatin interaction
ENSG00000232969	Chromatin interaction
ENSG00000160223	Chromatin interaction
ENSG00000196678	Chromatin interaction
ENSG00000241945	Chromatin interaction
ENSG00000005189	Chromatin interaction
ENSG00000160224	Chromatin interaction
ENSG00000160233	Chromatin interaction
ENSG00000235890	Chromatin interaction
ENSG00000236519	Chromatin interaction
ENSG00000225331	Chromatin interaction
ENSG00000160226	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs2039274	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2039275	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838544	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838545	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs34391295	0.84[ASN][1000 genomes]
rs34577649	0.85[ASN][1000 genomes]
rs3788114	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788116	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788117	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56317699	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66470336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7277792	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7283094	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8134520	0.91[CHB][hapmap];0.93[CHD][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs9975988	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9975994	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9976073	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9979367	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9979369	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9983978	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9984426	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv432155	chr21:45479055-45772388	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	esv1825445	chr21:45535566-45754936	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	esv1817474	chr21:45540607-45773102	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
7	nsv533679	chr21:45551026-45768578	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
8	nsv913898	chr21:45555079-45941566	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
9	nsv428042	chr21:45560437-45848190	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
10	nsv459295	chr21:45629565-45849864	Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
11	nsv587740	chr21:45629565-45849864	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
12	nsv913906	chr21:45657970-45818609	Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
13	nsv531555	chr21:45665972-45757659	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
14	nsv913907	chr21:45668171-45740823	Bivalent/Poised TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
15	esv3361489	chr21:45669073-46013747	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
16	nsv913910	chr21:45681153-45787250	Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
17	nsv913911	chr21:45681153-45893907	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
18	nsv913912	chr21:45687581-45768598	Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
19	nsv913913	chr21:45687581-45787250	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
20	nsv913914	chr21:45688215-45750346	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
21	nsv913916	chr21:45697755-45752176	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
22	nsv913917	chr21:45697755-45787250	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
23	nsv913918	chr21:45697755-45941566	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
24	nsv913919	chr21:45699404-45752176	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS 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	30 gene(s)	inside rSNPs	diseases
25	nsv913920	chr21:45699404-45824792	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
26	nsv913921	chr21:45699404-45854431	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
27	nsv913922	chr21:45699404-45893907	Genic enhancers Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
28	esv1850701	chr21:45700641-45724055	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
29	nsv913923	chr21:45700641-45726790	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
30	nsv913924	chr21:45700641-45740823	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
31	nsv913925	chr21:45700641-45752176	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
32	nsv913926	chr21:45700641-45764397	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
33	nsv913927	chr21:45700641-45787250	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
34	nsv913928	chr21:45700641-45811343	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
35	nsv913929	chr21:45700641-45860912	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
36	nsv913930	chr21:45700641-45893907	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
37	nsv587774	chr21:45703660-45726790	Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
38	nsv913931	chr21:45703660-45764397	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
39	nsv913932	chr21:45703660-45787250	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
40	nsv913933	chr21:45703660-45811343	ZNF genes & repeats Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
41	nsv913934	chr21:45704644-45739965	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
42	esv1851447	chr21:45705239-45723628	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
43	nsv913935	chr21:45709153-45787250	Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
44	nsv913936	chr21:45709153-45811343	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
45	nsv913937	chr21:45709153-45865167	Genic enhancers Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
46	nsv526673	chr21:45711202-45723384	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
47	nsv913938	chr21:45712588-45787250	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
48	nsv913939	chr21:45712588-45818609	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
49	nsv913940	chr21:45712588-45893907	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
50	esv3351040	chr21:45719074-45721172	Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1893208	COL18A1	cis	parietal	SCAN
rs1893208	KRTAP10-12	cis	parietal	SCAN
rs1893208	PFKL	cis	Skin Sun Exposed Lower leg	GTEx
rs1893208	PFKL	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45719200-45721400	Active TSS	HSMM	muscle
2	chr21:45719400-45721200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr21:45719400-45721200	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr21:45719400-45721200	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr21:45719400-45721200	Active TSS	NHDF-Ad	bronchial
6	chr21:45719400-45721400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr21:45719600-45721200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr21:45719600-45721200	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr21:45719600-45721200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr21:45719600-45721400	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr21:45719600-45721400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr21:45720400-45721200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr21:45720400-45721200	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr21:45720400-45721400	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr21:45720400-45721600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr21:45720400-45721800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr21:45720400-45721800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr21:45720600-45721200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
19	chr21:45720600-45721200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr21:45720600-45721200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr21:45720600-45721200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr21:45720600-45721200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr21:45720600-45721200	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr21:45720600-45721200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr21:45720600-45721200	Active TSS	Fetal Kidney	kidney
26	chr21:45720600-45721200	Flanking Active TSS	Fetal Muscle Trunk	muscle
27	chr21:45720600-45721200	Flanking Active TSS	Placenta	Placenta
28	chr21:45720600-45721200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
29	chr21:45720600-45721200	Flanking Active TSS	K562	blood
30	chr21:45720600-45721200	Flanking Active TSS	NH-A	brain
31	chr21:45720600-45721200	Flanking Active TSS	Osteobl	bone
32	chr21:45720600-45721400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr21:45720600-45721400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr21:45720600-45721400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr21:45720600-45721400	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr21:45720600-45721400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr21:45720600-45721400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr21:45720600-45721400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr21:45720600-45721400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr21:45720600-45721400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr21:45720600-45721400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr21:45720600-45721400	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr21:45720600-45721400	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr21:45720600-45721400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr21:45720600-45721400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr21:45720600-45721400	Flanking Active TSS	Brain Substantia Nigra	brain
47	chr21:45720600-45721400	Flanking Active TSS	Fetal Muscle Leg	muscle
48	chr21:45720600-45721400	Flanking Active TSS	Right Ventricle	heart
49	chr21:45720600-45721400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr21:45720600-45721400	Flanking Active TSS	HUVEC	blood vessel

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