Variant report

Variant	rs12482343
Chromosome Location	chr21:47604967-47604968
allele	A/G
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	MYC	chr21:47603760-47605410	K562	blood:	n/a	chr21:47604971-47604980
2	POLR2A	chr21:47604521-47605127	K562	blood:	n/a	n/a
3	FOSL2	chr21:47604193-47605161	HepG2	liver:	n/a	chr21:47604970-47604982 chr21:47604971-47604980
4	POLR2A	chr21:47603374-47605386	SK-N-MC	brain:	n/a	n/a
5	SIN3AK20	chr21:47604575-47605153	K562	blood:	n/a	n/a
6	USF2	chr21:47604715-47604973	H1-hESC	embryonic stem cell:	n/a	n/a
7	E2F4	chr21:47604707-47605192	GM12878	blood:	n/a	n/a
8	JUND	chr21:47604829-47605042	H1-hESC	embryonic stem cell:	n/a	chr21:47604970-47604981 chr21:47604970-47604982 chr21:47604971-47604980
9	TAF1	chr21:47604597-47605095	H1-neurons	neurons:	n/a	n/a
10	NFYB	chr21:47604097-47605144	Hela-S3	cervix:	n/a	n/a
11	MAX	chr21:47604714-47605119	NB4	blood:	n/a	chr21:47604971-47604980
12	NFYB	chr21:47603837-47605189	K562	blood:	n/a	n/a
13	EP300	chr21:47604653-47605545	K562	blood:	n/a	chr21:47604971-47604980
14	POLR2A	chr21:47604540-47605347	H1-neurons	neurons:	n/a	n/a
15	POLR2A	chr21:47604840-47605109	H1-hESC	embryonic stem cell:	n/a	n/a
16	PBX3	chr21:47604057-47605090	SK-N-SH	brain:	n/a	n/a
17	SIN3A	chr21:47603914-47605273	H1-hESC	embryonic stem cell:	n/a	n/a
18	JUND	chr21:47604625-47605383	H1-hESC	embryonic stem cell:	n/a	chr21:47604970-47604981 chr21:47604970-47604982 chr21:47604971-47604980
19	TAF1	chr21:47604564-47605194	H1-neurons	neurons:	n/a	n/a
20	HEY1	chr21:47603302-47605165	K562	blood:	n/a	n/a
21	POLR2A	chr21:47604184-47605056	GM15510	blood:	n/a	n/a
22	POLR2A	chr21:47603811-47605262	K562	blood:	n/a	n/a
23	POLR2A	chr21:47604102-47605086	GM12878	blood:	n/a	n/a
24	POLR2A	chr21:47604148-47605022	H1-hESC	embryonic stem cell:	n/a	n/a
25	SIN3A	chr21:47604251-47605050	GM12878	blood:	n/a	n/a
26	IRF1	chr21:47604726-47605787	K562	blood:	n/a	n/a
27	SP2	chr21:47604029-47604985	HepG2	liver:	n/a	n/a
28	MXI1	chr21:47604486-47604995	Hela-S3	cervix:	n/a	n/a
29	E2F6	chr21:47603807-47605118	K562	blood:	n/a	n/a
30	PBX3	chr21:47604060-47605181	SK-N-SH	brain:	n/a	n/a
31	CHD2	chr21:47603938-47605049	GM12878	blood:	n/a	n/a
32	EBF1	chr21:47604310-47604980	GM12878	blood:	n/a	chr21:47604713-47604724
33	POLR2A	chr21:47603770-47605185	K562	blood:	n/a	n/a
34	FOS	chr21:47604323-47605003	Hela-S3	cervix:	n/a	chr21:47604970-47604982 chr21:47604970-47604981 chr21:47604971-47604980
35	CEBPB	chr21:47604671-47605051	IMR90	lung:	n/a	chr21:47604860-47604871
36	FOS	chr21:47604460-47605359	HUVEC	blood vessel:	n/a	chr21:47604970-47604982 chr21:47604970-47604981 chr21:47604971-47604980
37	NFYA	chr21:47603897-47605271	K562	blood:	n/a	n/a
38	CHD2	chr21:47603959-47605020	K562	blood:	n/a	n/a
39	ELF1	chr21:47604801-47605136	K562	blood:	n/a	n/a
40	ZMIZ1	chr21:47604581-47605660	K562	blood:	n/a	n/a
41	HDAC2	chr21:47604655-47605005	K562	blood:	n/a	n/a
42	FOS	chr21:47604848-47605241	MCF10A-Er-Src	breast:	n/a	chr21:47604970-47604982 chr21:47604970-47604981 chr21:47604971-47604980
43	JUND	chr21:47604808-47605158	HepG2	liver:	n/a	chr21:47604970-47604981 chr21:47604970-47604982 chr21:47604971-47604980
44	E2F6	chr21:47604796-47605007	K562	blood:	n/a	n/a
45	PML	chr21:47604511-47605336	K562	blood:	n/a	chr21:47604970-47604979
46	STAT5A	chr21:47604558-47605003	GM12878	blood:	n/a	n/a
47	ELK1	chr21:47604609-47605072	K562	blood:	n/a	n/a
48	CEBPB	chr21:47604600-47605061	Hela-S3	cervix:	n/a	chr21:47604860-47604871
49	CEBPB	chr21:47604611-47605154	K562	blood:	n/a	chr21:47604860-47604871
50	SP2	chr21:47604512-47605060	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:47601827..47605045-chr21:47646095..47649627,4	MCF-7	breast:
2	chr21:47602847..47606841-chr21:47742668..47745795,6	K562	blood:
3	chr21:47602595..47605401-chr21:47649000..47651929,3	K562	blood:
4	chr21:47604083..47605836-chr21:47704849..47706499,2	K562	blood:
5	chr21:47563633..47565565-chr21:47603562..47606281,2	K562	blood:
6	chr21:47603167..47605215-chr21:47743246..47745709,3	K562	blood:

Variant related genes	Relation type
ENSG00000228404	TF binding region
SPATC1L	TF binding region
ENSG00000160282	Chromatin interaction
ENSG00000160285	Chromatin interaction
ENSG00000160294	Chromatin interaction
ENSG00000215424	Chromatin interaction
ENSG00000160298	Chromatin interaction
ENSG00000160299	Chromatin interaction
ENSG00000182362	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11089051	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11908812	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12482002	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12482741	1.00[ASN][1000 genomes]
rs12482903	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12482934	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12483577	1.00[ASN][1000 genomes]
rs13046028	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13047784	1.00[ASN][1000 genomes]
rs16979054	1.00[ASN][1000 genomes]
rs17176534	1.00[ASN][1000 genomes]
rs17176737	1.00[ASN][1000 genomes]
rs17176779	1.00[ASN][1000 genomes]
rs17176793	1.00[ASN][1000 genomes]
rs17176800	1.00[ASN][1000 genomes]
rs17176905	1.00[ASN][1000 genomes]
rs17176926	1.00[ASN][1000 genomes]
rs17176974	1.00[ASN][1000 genomes]
rs17176988	1.00[ASN][1000 genomes]
rs17177030	1.00[ASN][1000 genomes]
rs17182739	1.00[ASN][1000 genomes]
rs17182746	1.00[ASN][1000 genomes]
rs17183137	1.00[ASN][1000 genomes]
rs17183151	1.00[ASN][1000 genomes]
rs17183220	1.00[ASN][1000 genomes]
rs17183368	1.00[ASN][1000 genomes]
rs17183473	1.00[ASN][1000 genomes]
rs17297798	1.00[ASN][1000 genomes]
rs17297961	1.00[ASN][1000 genomes]
rs17369792	1.00[ASN][1000 genomes]
rs2212749	1.00[ASN][1000 genomes]
rs2839169	1.00[ASN][1000 genomes]
rs34500739	1.00[ASN][1000 genomes]
rs56693387	1.00[ASN][1000 genomes]
rs59613587	1.00[ASN][1000 genomes]
rs60751239	1.00[ASN][1000 genomes]
rs61181882	1.00[ASN][1000 genomes]
rs61448213	1.00[ASN][1000 genomes]
rs61736728	1.00[ASN][1000 genomes]
rs62212860	1.00[ASN][1000 genomes]
rs62214040	1.00[ASN][1000 genomes]
rs62214041	1.00[ASN][1000 genomes]
rs62214042	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62214043	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62214045	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62214046	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62214051	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62214052	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62214055	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62215182	1.00[ASN][1000 genomes]
rs62215183	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62215184	1.00[ASN][1000 genomes]
rs62215185	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62215186	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62215187	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8126678	1.00[ASN][1000 genomes]
rs8134519	1.00[ASN][1000 genomes]
rs9977340	1.00[ASN][1000 genomes]
rs9979331	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058665	chr21:46719445-47634282	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
2	nsv544486	chr21:46719445-47634282	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv914079	chr21:47243074-47650362	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	n/a
10	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
11	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
12	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
13	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
14	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
15	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
16	nsv914098	chr21:47467894-47619784	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
17	nsv1061087	chr21:47476088-47643219	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	n/a
18	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
19	nsv914101	chr21:47491014-47650362	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	n/a
20	nsv914107	chr21:47514885-47605335	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
21	nsv914108	chr21:47514885-47609677	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
22	nsv914114	chr21:47526240-47605335	Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers 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	14 gene(s)	inside rSNPs	n/a
23	nsv914115	chr21:47526240-47614469	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
24	nsv914116	chr21:47535248-47650362	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
25	nsv914120	chr21:47538960-47605335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
26	nsv914128	chr21:47558994-47609677	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
27	nsv914129	chr21:47566828-47609677	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
28	nsv914131	chr21:47572244-47609677	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
29	nsv914132	chr21:47572244-47619784	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
30	nsv914133	chr21:47583506-47613486	Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
31	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
32	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
33	esv1822235	chr21:47588465-47610305	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
34	esv1835687	chr21:47589099-47605335	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
35	esv1838471	chr21:47589099-47605335	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
36	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
37	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
38	esv3424921	chr21:47604361-47605179	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12482343	C21orf57	Cis_1M	lymphoblastoid	RTeQTL
rs12482343	SPATC1L	cis	Artery Tibial	GTEx
rs12482343	SPATC1L	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47602800-47605600	Active TSS	Brain Angular Gyrus	brain
2	chr21:47603000-47605200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr21:47603000-47605200	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr21:47603000-47605400	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr21:47603200-47605000	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr21:47603200-47605200	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr21:47603200-47605200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr21:47603200-47605200	Active TSS	Brain Germinal Matrix	brain
9	chr21:47603200-47605200	Active TSS	Hela-S3	cervix
10	chr21:47603200-47605200	Active TSS	HSMM	muscle
11	chr21:47603200-47605400	Active TSS	Rectal Smooth Muscle	rectum
12	chr21:47603400-47605200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr21:47603400-47605200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr21:47603400-47605200	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr21:47603400-47605400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr21:47603400-47605400	Active TSS	Brain Cingulate Gyrus	brain
17	chr21:47603400-47605600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr21:47603400-47605600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr21:47603400-47605600	Active TSS	K562	blood
20	chr21:47603600-47605200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr21:47603600-47605200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr21:47603800-47605000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr21:47603800-47605000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
24	chr21:47603800-47605000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr21:47603800-47605000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr21:47603800-47605000	Active TSS	Colon Smooth Muscle	Colon
27	chr21:47603800-47605000	Flanking Active TSS	Placenta	Placenta
28	chr21:47603800-47605200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr21:47603800-47605200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr21:47603800-47605200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr21:47603800-47605200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr21:47603800-47605200	Active TSS	Fetal Intestine Small	intestine
33	chr21:47603800-47605200	Active TSS	NH-A	brain
34	chr21:47603800-47605200	Active TSS	Osteobl	bone
35	chr21:47603800-47605400	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr21:47603800-47605400	Active TSS	H1 Cell Line	embryonic stem cell
37	chr21:47603800-47605400	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr21:47603800-47605400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr21:47603800-47605400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr21:47603800-47605400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr21:47603800-47605400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr21:47603800-47605400	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr21:47603800-47605400	Active TSS	Fetal Intestine Large	intestine
44	chr21:47603800-47605400	Active TSS	Thymus	Thymus
45	chr21:47603800-47605400	Active TSS	NHDF-Ad	bronchial
46	chr21:47603800-47605600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr21:47603800-47605600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr21:47603800-47605600	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr21:47603800-47605600	Active TSS	Fetal Kidney	kidney
50	chr21:47603800-47605600	Active TSS	Pancreatic Islets	Pancreatic Islet

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