Variant report

Variant	rs2276258
Chromosome Location	chr21:47745133-47745134
allele	C/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	POLR2A	chr21:47742113-47745508	GM18505	blood:	n/a	n/a
2	POLR2A	chr21:47742065-47745484	GM18951	blood:	n/a	n/a
3	YY1	chr21:47743244-47745447	K562	blood:	n/a	chr21:47744395-47744406 chr21:47744356-47744376 chr21:47744401-47744410 chr21:47744359-47744369 chr21:47744360-47744368 chr21:47744359-47744381 chr21:47744395-47744404 chr21:47744357-47744376 chr21:47744262-47744276 chr21:47744355-47744364 chr21:47744004-47744013 chr21:47744362-47744370 chr21:47744396-47744410
4	MYC	chr21:47742587-47746479	K562	blood:	n/a	chr21:47744269-47744279 chr21:47745301-47745311 chr21:47745304-47745314
5	POLR2A	chr21:47744995-47745455	H1-neurons	neurons:	n/a	n/a
6	BACH1	chr21:47744492-47745635	H1-hESC	embryonic stem cell:	n/a	n/a
7	ELF1	chr21:47745008-47745365	K562	blood:	n/a	n/a
8	MAX	chr21:47742515-47745712	MCF-7	breast:	n/a	chr21:47744269-47744279 chr21:47745301-47745311 chr21:47745304-47745314
9	SIN3A	chr21:47742993-47745474	GM12878	blood:	n/a	n/a
10	SIN3AK20	chr21:47743361-47745318	PANC-1	pancreas:	n/a	n/a
11	TCF7L2	chr21:47744289-47745442	HCT-116	colon:	n/a	n/a
12	POLR2A	chr21:47745084-47745561	K562	blood:	n/a	n/a
13	UBTF	chr21:47742280-47745546	K562	blood:	n/a	n/a
14	POLR2A	chr21:47742125-47745501	K562	blood:	n/a	n/a
15	POLR2A	chr21:47742288-47745444	GM18526	blood:	n/a	n/a
16	PAX5	chr21:47744834-47745294	GM12892	blood:	n/a	n/a
17	HEY1	chr21:47744484-47745542	K562	blood:	n/a	n/a
18	POLR2A	chr21:47744992-47745383	A549	lung:	n/a	n/a
19	CTCF	chr21:47745070-47745600	K562	blood:	n/a	n/a
20	HEY1	chr21:47741828-47745760	K562	blood:	n/a	chr21:47744008-47744023 chr21:47744005-47744020 chr21:47744397-47744412 chr21:47743927-47743942
21	POLR2A	chr21:47745075-47745370	H1-hESC	embryonic stem cell:	n/a	n/a
22	TBP	chr21:47743092-47745722	K562	blood:	n/a	n/a
23	CREB1	chr21:47743509-47745356	GM12878	blood:	n/a	n/a
24	SIN3AK20	chr21:47742089-47746602	MCF-7	breast:	n/a	n/a
25	POLR2A	chr21:47743541-47745445	HCT-116	colon:	n/a	n/a
26	POLR2A	chr21:47744470-47745856	Hela-S3	cervix:	n/a	n/a
27	MXI1	chr21:47743150-47745240	GM12878	blood:	n/a	n/a
28	POLR2A	chr21:47742243-47745780	Raji	blood:	n/a	n/a
29	POLR2A	chr21:47742009-47745492	K562	blood:	n/a	n/a
30	SIN3AK20	chr21:47742337-47745492	K562	blood:	n/a	n/a
31	TAF1	chr21:47744971-47745536	K562	blood:	n/a	n/a
32	GABPA	chr21:47743483-47745365	K562	blood:	n/a	chr21:47743954-47743968 chr21:47743851-47743858 chr21:47743951-47743965 chr21:47744004-47744013 chr21:47743954-47743965 chr21:47743956-47743965
33	MXI1	chr21:47745068-47745743	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr21:47736947-47745446	HepG2	liver:	n/a	n/a
35	MAX	chr21:47744476-47745633	SK-N-SH	brain:	n/a	chr21:47745301-47745311 chr21:47745304-47745314
36	MAZ	chr21:47742077-47745972	IMR90	lung:	n/a	chr21:47744269-47744279 chr21:47745301-47745311 chr21:47745304-47745314
37	TCF12	chr21:47743287-47745626	MCF-7	breast:	n/a	n/a
38	YY1	chr21:47745092-47745467	K562	blood:	n/a	n/a
39	POLR2A	chr21:47743311-47745424	MCF-7	breast:	n/a	n/a
40	E2F1	chr21:47743363-47745165	Hela-S3	cervix:	n/a	chr21:47744322-47744331 chr21:47743819-47743828 chr21:47744323-47744330 chr21:47743986-47743995 chr21:47744323-47744330 chr21:47744323-47744330 chr21:47743955-47743964 chr21:47744322-47744334 chr21:47743781-47743792 chr21:47745132-47745141 chr21:47744412-47744421 chr21:47744013-47744023 chr21:47744004-47744013
41	REST	chr21:47743182-47745741	H1-neurons	neurons:	n/a	chr21:47744263-47744276 chr21:47745264-47745274 chr21:47743785-47743798 chr21:47745148-47745168 chr21:47745187-47745200 chr21:47743938-47743956 chr21:47745148-47745168 chr21:47744741-47744754 chr21:47743941-47743954
42	POLR2A	chr21:47745039-47745377	A549	lung:	n/a	n/a
43	POLR2A	chr21:47742294-47745453	GM12892	blood:	n/a	n/a
44	PML	chr21:47744460-47745342	GM12878	blood:	n/a	n/a
45	POLR2A	chr21:47742134-47745301	PFSK-1	brain:	n/a	n/a
46	POLR2A	chr21:47743451-47745397	Gliobla	brain:	n/a	n/a
47	HDAC2	chr21:47743450-47745539	MCF-7	breast:	n/a	chr21:47743956-47743965 chr21:47743938-47743957 chr21:47743954-47743963
48	POLR2A	chr21:47741949-47745362	GM19193	blood:	n/a	n/a
49	POLR2A	chr21:47742363-47745770	MCF-7	breast:	n/a	n/a
50	RAD21	chr21:47744587-47745520	IMR90	lung:	n/a	chr21:47744644-47744658

No.	Distal block	Cell Line	Cell type
1	chr21:47673462..47676957-chr21:47743809..47746402,3	MCF-7	breast:
2	chr21:47647133..47651941-chr21:47742263..47745700,6	K562	blood:
3	chr21:47742824..47746367-chr21:47874951..47878920,7	K562	blood:
4	chr21:47743042..47745765-chr21:47875975..47879914,6	MCF-7	breast:
5	chr21:47742444..47746489-chr21:47762555..47767445,7	K562	blood:
6	chr16:2801566..2803827-chr21:47743129..47745547,2	MCF-7	breast:
7	chr21:47645020..47650682-chr21:47742361..47746485,6	MCF-7	breast:
8	chr21:47647133..47651621-chr21:47740452..47747290,19	K562	blood:
9	chr21:47745116..47746621-chr21:47754846..47756974,2	MCF-7	breast:
10	chr21:47639759..47642678-chr21:47743498..47745224,2	MCF-7	breast:
11	chr21:47603167..47605215-chr21:47743246..47745709,3	K562	blood:
12	chr21:47564368..47568597-chr21:47741614..47745388,4	K562	blood:
13	chr21:47700722..47725192-chr21:47732201..47746452,77	K562	blood:
14	chr21:47701944..47708797-chr21:47740125..47746082,20	MCF-7	breast:
15	chr21:47602847..47606841-chr21:47742668..47745795,6	K562	blood:
16	chr21:47741705..47745829-chr21:48053977..48057908,5	MCF-7	breast:
17	chr21:47646269..47649125-chr21:47743785..47746480,4	MCF-7	breast:
18	chr21:47566691..47568629-chr21:47742484..47745321,3	MCF-7	breast:
19	chr21:47744820..47747275-chr21:47755584..47759205,4	MCF-7	breast:
20	chr21:47705660..47706201-chr21:47744629..47745219,2	MCF-7	breast:
21	chr21:47702151..47710134-chr21:47741079..47747645,22	MCF-7	breast:
22	chr21:47702524..47712328-chr21:47732975..47746274,46	K562	blood:
23	chr21:47742148..47745488-chr21:47766251..47771392,4	K562	blood:
24	chr21:47724056..47726526-chr21:47744918..47748024,3	MCF-7	breast:
25	chr21:47743254..47746166-chr21:47876901..47880445,4	MCF-7	breast:
26	chr21:47671137..47673636-chr21:47743740..47746096,3	K562	blood:

Variant related genes	Relation type
C21orf58	TF binding region
ENSG00000160299	Chromatin interaction
ENSG00000160305	Chromatin interaction
ENSG00000167978	Chromatin interaction
ENSG00000160284	Chromatin interaction
ENSG00000160294	Chromatin interaction
ENSG00000160282	Chromatin interaction
ENSG00000182362	Chromatin interaction
ENSG00000239415	Chromatin interaction
ENSG00000160285	Chromatin interaction
ENSG00000223901	Chromatin interaction
ENSG00000205913	Chromatin interaction
ENSG00000215424	Chromatin interaction
ENSG00000160310	Chromatin interaction
ENSG00000228404	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11089061	0.80[ASN][1000 genomes]
rs11700519	0.80[ASN][1000 genomes]
rs11701725	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13047780	0.81[ASN][1000 genomes]
rs13049522	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2249060	0.90[AFR][1000 genomes]
rs3747006	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4818834	0.81[ASN][1000 genomes]
rs4818835	0.81[ASN][1000 genomes]
rs4819236	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4819238	0.90[ASN][1000 genomes]
rs4819239	0.92[AFR][1000 genomes]
rs6518287	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7277438	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7279193	0.88[AFR][1000 genomes]
rs7283664	0.94[ASN][1000 genomes]
rs8651	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9980222	0.83[ASN][1000 genomes]
rs9980227	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 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
33	esv3357725	chr21:47743049-47746097	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	n/a

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs2276258	C21orf57	Cis_1M	lymphoblastoid	RTeQTL
rs2276258	AP001469.9	cis	Thyroid	GTEx
rs2276258	YBEY	cis	Whole Blood	GTEx
rs2276258	YBEY	cis	lung	GTEx
rs2276258	YBEY	cis	Artery Tibial	GTEx
rs2276258	YBEY	cis	Esophagus Mucosa	GTEx
rs2276258	YBEY	cis	Skin Sun Exposed Lower leg	GTEx
rs2276258	YBEY	cis	Nerve Tibial	GTEx
rs2276258	C21orf56	Cis_1M	lymphoblastoid	RTeQTL
rs2276258	YBEY	cis	Muscle Skeletal	GTEx
rs2276258	YBEY	cis	Adipose Subcutaneous	GTEx
rs2276258	YBEY	cis	Stomach	GTEx
rs2276258	YBEY	cis	Thyroid	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47741200-47745400	Active TSS	Fetal Kidney	kidney
2	chr21:47741600-47745400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr21:47741600-47745400	Active TSS	GM12878-XiMat	blood
4	chr21:47741800-47745400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:47741800-47745400	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr21:47741800-47745400	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr21:47741800-47745400	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr21:47741800-47745600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr21:47741800-47745600	Active TSS	NHDF-Ad	bronchial
10	chr21:47741800-47745800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr21:47741800-47746200	Active TSS	A549	lung
12	chr21:47741800-47746400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr21:47742000-47745800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr21:47742200-47745400	Active TSS	Gastric	stomach
15	chr21:47742200-47745600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr21:47742200-47745600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr21:47742400-47745400	Active TSS	H9 Cell Line	embryonic stem cell
18	chr21:47742400-47745400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr21:47742400-47745400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr21:47742400-47745400	Active TSS	Hela-S3	cervix
21	chr21:47742400-47745600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr21:47742400-47745600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr21:47742400-47745600	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr21:47742600-47745200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr21:47742600-47745200	Active TSS	Fetal Intestine Large	intestine
26	chr21:47742600-47745400	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr21:47742600-47745400	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr21:47742600-47745400	Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr21:47742600-47745400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr21:47742600-47745400	Active TSS	Fetal Lung	lung
31	chr21:47742600-47745400	Active TSS	Small Intestine	intestine
32	chr21:47742600-47745400	Active TSS	Stomach Mucosa	stomach
33	chr21:47742600-47745400	Active TSS	HMEC	breast
34	chr21:47742600-47745400	Active TSS	K562	blood
35	chr21:47742600-47745600	Active TSS	H1 Cell Line	embryonic stem cell
36	chr21:47742600-47745600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr21:47742600-47745600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr21:47742600-47745600	Active TSS	Aorta	Aorta
39	chr21:47742600-47746000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr21:47742800-47745400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr21:47742800-47745400	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr21:47743000-47745400	Active TSS	Fetal Intestine Small	intestine
43	chr21:47743000-47745400	Active TSS	Psoas Muscle	Psoas
44	chr21:47743000-47745400	Active TSS	NHEK	skin
45	chr21:47743000-47745600	Active TSS	Esophagus	oesophagus
46	chr21:47743000-47745600	Active TSS	Ovary	ovary
47	chr21:47743000-47745600	Active TSS	Placenta Amnion	Placenta Amnion
48	chr21:47743200-47745200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr21:47743200-47745200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr21:47743200-47745200	Active TSS	Lung	lung

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