Variant report

Variant	rs56317699
Chromosome Location	chr21:45722155-45722156
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	chr21:45722020-45722170	HEEpiC	esophagus:	n/a	chr21:45722056-45722069 chr21:45722058-45722066
2	CTCF	chr21:45722040-45722190	HCT-116	colon:	n/a	chr21:45722056-45722069 chr21:45722058-45722066
3	CTCF	chr21:45722020-45722170	GM12872	blood:	n/a	chr21:45722056-45722069 chr21:45722058-45722066
4	CTCF	chr21:45722020-45722170	GM12865	blood:	n/a	chr21:45722056-45722069 chr21:45722058-45722066
5	CTCF	chr21:45722020-45722170	AG10803	skin:	n/a	chr21:45722056-45722069 chr21:45722058-45722066
6	POLR2A	chr21:45722006-45722175	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr21:45721899-45722469	U87	brain:	n/a	n/a
8	POLR2A	chr21:45719122-45722784	HL-60	blood:	n/a	n/a
9	POLR2A	chr21:45721957-45722626	K562	blood:	n/a	n/a
10	CTCF	chr21:45721916-45722197	GM12878	blood:	n/a	chr21:45722056-45722069 chr21:45722058-45722066
11	CTCF	chr21:45722020-45722170	GM12867	blood:	n/a	chr21:45722056-45722069 chr21:45722058-45722066
12	POLR2A	chr21:45720978-45722862	PFSK-1	brain:	n/a	n/a
13	TCF3	chr21:45722042-45722191	GM12878	blood:	n/a	chr21:45722173-45722186
14	POLR2A	chr21:45719209-45722900	K562	blood:	n/a	n/a
15	CTCF	chr21:45722020-45722170	GM12878	blood:	n/a	chr21:45722056-45722069 chr21:45722058-45722066
16	CTCF	chr21:45721977-45722161	MCF-7	breast:	n/a	chr21:45722056-45722069 chr21:45722058-45722066
17	CTCF	chr21:45721975-45722164	H1-hESC	embryonic stem cell:	n/a	chr21:45722056-45722069 chr21:45722058-45722066
18	PAX5	chr21:45721992-45722233	GM12878	blood:	n/a	chr21:45722155-45722174
19	CTCF	chr21:45721985-45722155	MCF-7	breast:	n/a	chr21:45722056-45722069 chr21:45722058-45722066
20	POLR2A	chr21:45722082-45722469	HepG2	liver:	n/a	n/a
21	CTCF	chr21:45722100-45722250	NB4	blood:	n/a	n/a
22	ZNF263	chr21:45721999-45722455	HEK293-T-REx	kidney:	n/a	chr21:45722196-45722205
23	POLR2A	chr21:45721975-45722374	HepG2	liver:	n/a	n/a
24	CTCF	chr21:45721946-45722160	HepG2	liver:	n/a	chr21:45722056-45722069 chr21:45722058-45722066
25	CTCF	chr21:45722080-45722230	HPAF	blood vessel:	n/a	n/a
26	POLR2A	chr21:45718604-45723935	HepG2	liver:	n/a	n/a
27	CTCF	chr21:45722020-45722170	GM12875	blood:	n/a	chr21:45722056-45722069 chr21:45722058-45722066
28	CTCF	chr21:45722140-45722290	GM12864	blood:	n/a	n/a
29	EBF1	chr21:45721842-45722216	GM12878	blood:	n/a	n/a
30	CTCF	chr21:45722040-45722190	HRE	kidney:	n/a	chr21:45722056-45722069 chr21:45722058-45722066
31	CTCF	chr21:45722020-45722170	SAEC	small airway:	n/a	chr21:45722056-45722069 chr21:45722058-45722066
32	MXI1	chr21:45722002-45722238	GM12878	blood:	n/a	n/a
33	POLR2A	chr21:45721937-45722227	GM12878	blood:	n/a	n/a
34	ELF1	chr21:45721660-45722534	GM12878	blood:	n/a	n/a
35	CTCF	chr21:45722020-45722170	NHEK	skin:	n/a	chr21:45722056-45722069 chr21:45722058-45722066
36	POLR2A	chr21:45721822-45722829	K562	blood:	n/a	n/a
37	CTCF	chr21:45722020-45722170	HRPEpiC	eye:	n/a	chr21:45722056-45722069 chr21:45722058-45722066
38	EBF1	chr21:45721943-45722158	GM12878	blood:	n/a	n/a
39	POLR2A	chr21:45721097-45722369	GM12878	blood:	n/a	n/a
40	CTCF	chr21:45722020-45722170	K562	blood:	n/a	chr21:45722056-45722069 chr21:45722058-45722066
41	POLR2A	chr21:45721820-45722475	U87	brain:	n/a	n/a
42	SPI1	chr21:45721926-45722447	HL-60	blood:	n/a	chr21:45722091-45722104 chr21:45722097-45722104
43	POLR2A	chr21:45721952-45722254	GM12878	blood:	n/a	n/a
44	CTCF	chr21:45722020-45722170	GM12873	blood:	n/a	chr21:45722056-45722069 chr21:45722058-45722066
45	CTCF	chr21:45722020-45722170	GM12870	blood:	n/a	chr21:45722056-45722069 chr21:45722058-45722066

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	chr21:45646929..45649762-chr21:45721151..45723519,2	MCF-7	breast:
4	chr21:45658941..45665769-chr21:45718013..45724632,19	MCF-7	breast:
5	chr21:45524250..45528671-chr21:45720289..45724952,5	MCF-7	breast:
6	chr21:45577622..45580238-chr21:45720220..45722935,2	MCF-7	breast:
7	chr21:45658347..45670658-chr21:45718073..45723358,28	MCF-7	breast:
8	chr21:45431787..45433957-chr21:45722035..45724277,2	MCF-7	breast:
9	chr21:45551834..45580791-chr21:45711953..45732193,97	MCF-7	breast:
10	chr21:45720740..45724060-chr21:45730996..45734496,4	MCF-7	breast:
11	chr21:45722123..45722801-chr21:45929220..45929813,2	MCF-7	breast:
12	chr21:45644616..45646347-chr21:45720653..45723440,2	MCF-7	breast:
13	chr21:45551760..45557176-chr21:45717626..45723007,13	MCF-7	breast:
14	chr21:45719852..45723806-chr21:45756512..45759776,5	MCF-7	breast:
15	chr12:106530538..106533489-chr21:45720993..45722584,2	MCF-7	breast:
16	chr21:45692048..45693952-chr21:45722108..45724674,2	K562	blood:
17	chr21:45556726..45571792-chr21:45714286..45731454,46	K562	blood:
18	chr21:45525653..45528591-chr21:45721337..45723172,3	MCF-7	breast:

Variant related genes	Relation type
PFKL	TF binding region
ENSG00000160223	Chromatin interaction
ENSG00000241945	Chromatin interaction
ENSG00000225331	Chromatin interaction
ENSG00000160226	Chromatin interaction
ENSG00000232969	Chromatin interaction
ENSG00000232010	Chromatin interaction
ENSG00000160221	Chromatin interaction
ENSG00000142182	Chromatin interaction
ENSG00000160218	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1893208	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2039274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2039275	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838544	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838545	0.94[ASN][1000 genomes]
rs34391295	0.84[ASN][1000 genomes]
rs34577649	0.85[ASN][1000 genomes]
rs3788114	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788116	1.00[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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66470336	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7277792	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7283094	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8134520	0.85[ASN][1000 genomes]
rs9975988	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9975994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9976073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9979367	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9979369	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9983978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9984426	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	esv1809891	chr21:45719973-45722442	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs56317699	PFKL	cis	Adipose Subcutaneous	GTEx
rs56317699	PFKL	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45720600-45722200	Flanking Active TSS	Brain Germinal Matrix	brain
2	chr21:45720600-45722200	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr21:45720600-45722600	Flanking Active TSS	Duodenum Mucosa	Duodenum
4	chr21:45720600-45724800	Enhancers	Fetal Heart	heart
5	chr21:45720800-45722400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
6	chr21:45720800-45722600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr21:45720800-45722600	Flanking Active TSS	Fetal Intestine Large	intestine
8	chr21:45720800-45722600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
9	chr21:45720800-45722800	Flanking Active TSS	Colonic Mucosa	Colon
10	chr21:45720800-45722800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
11	chr21:45720800-45722800	Flanking Active TSS	GM12878-XiMat	blood
12	chr21:45720800-45731000	Weak transcription	Aorta	Aorta
13	chr21:45721000-45722200	Enhancers	Thymus	Thymus
14	chr21:45721000-45722400	Enhancers	Fetal Brain Male	brain
15	chr21:45721000-45722600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr21:45721000-45722600	Enhancers	Fetal Lung	lung
17	chr21:45721000-45722600	Enhancers	Fetal Thymus	thymus
18	chr21:45721000-45722600	Enhancers	Psoas Muscle	Psoas
19	chr21:45721000-45722800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr21:45721000-45723000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr21:45721000-45723000	Enhancers	Lung	lung
22	chr21:45721000-45723000	Flanking Active TSS	HepG2	liver
23	chr21:45721000-45723400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr21:45721000-45723400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr21:45721000-45725000	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr21:45721000-45725000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr21:45721000-45725600	Enhancers	Liver	Liver
28	chr21:45721000-45725600	Enhancers	Left Ventricle	heart
29	chr21:45721000-45726200	Enhancers	Pancreas	Pancrea
30	chr21:45721000-45727000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr21:45721000-45757600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr21:45721200-45722200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr21:45721200-45722400	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr21:45721200-45722600	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr21:45721200-45722600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr21:45721200-45722800	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr21:45721200-45722800	Enhancers	Brain Angular Gyrus	brain
38	chr21:45721200-45722800	Active TSS	Rectal Smooth Muscle	rectum
39	chr21:45721200-45722800	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr21:45721200-45722800	Enhancers	A549	lung
41	chr21:45721200-45722800	Enhancers	NHEK	skin
42	chr21:45721200-45723400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr21:45721200-45723600	Enhancers	Brain Hippocampus Middle	brain
44	chr21:45721200-45724200	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr21:45721200-45724400	Enhancers	Primary B cells from cord blood	blood
46	chr21:45721200-45724600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr21:45721200-45725000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr21:45721200-45726200	Enhancers	Gastric	stomach
49	chr21:45721200-45726400	Enhancers	Stomach Mucosa	stomach
50	chr21:45721200-45727200	Weak transcription	NHDF-Ad	bronchial

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