Variant report

Variant	rs13049893
Chromosome Location	chr21:47707054-47707055
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr21:47705428-47707082	H1-neurons	neurons:	n/a	chr21:47706052-47706065 chr21:47706159-47706177
2	MAX	chr21:47705602-47707213	GM12878	blood:	n/a	chr21:47705899-47705908 chr21:47705898-47705908
3	POLR2A	chr21:47705563-47707502	GM12878	blood:	n/a	n/a
4	POLR2A	chr21:47705547-47707108	U87	brain:	n/a	n/a
5	POLR2A	chr21:47706982-47707093	K562	blood:	n/a	n/a
6	GABPA	chr21:47705239-47707274	MCF-7	breast:	n/a	chr21:47706001-47706010 chr21:47706223-47706232
7	PML	chr21:47705865-47707127	K562	blood:	n/a	n/a
8	TBL1XR1	chr21:47705549-47707127	K562	blood:	n/a	n/a
9	MXI1	chr21:47704784-47707500	IMR90	lung:	n/a	n/a
10	POLR2A	chr21:47705118-47707061	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr21:47706952-47707233	GM12878	blood:	n/a	n/a
12	BRCA1	chr21:47706124-47707054	H1-hESC	embryonic stem cell:	n/a	n/a
13	SIN3AK20	chr21:47705370-47707252	MCF-7	breast:	n/a	n/a
14	CHD1	chr21:47705645-47707184	GM12878	blood:	n/a	n/a
15	POLR2A	chr21:47705534-47707055	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr21:47705555-47707096	Hela-S3	cervix:	n/a	n/a
17	SIN3AK20	chr21:47705516-47707164	MCF-7	breast:	n/a	n/a
18	POLR2A	chr21:47705536-47707273	GM18505	blood:	n/a	n/a
19	POLR2A	chr21:47705886-47707193	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr21:47705124-47707183	MCF10A-Er-Src	breast:	n/a	n/a
21	ELF1	chr21:47705517-47707154	MCF-7	breast:	n/a	chr21:47706190-47706201 chr21:47706191-47706200 chr21:47705641-47705652
22	IRF1	chr21:47704865-47707134	K562	blood:	n/a	chr21:47705311-47705321
23	HCFC1	chr21:47705184-47707246	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr21:47705640-47707094	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr21:47705578-47707059	SK-N-MC	brain:	n/a	n/a
26	POLR2A	chr21:47705629-47707080	GM19099	blood:	n/a	n/a
27	POLR2A	chr21:47705926-47707163	U87	brain:	n/a	n/a
28	ZNF384	chr21:47706726-47707369	GM12878	blood:	n/a	n/a
29	POLR2A	chr21:47703548-47707412	GM12891	blood:	n/a	n/a
30	JUN	chr21:47705380-47707394	K562	blood:	n/a	chr21:47705591-47705600

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47647592..47650436-chr21:47705418..47707523,3	K562	blood:
2	chr21:47703549..47712907-chr21:47732716..47739888,14	MCF-7	breast:
3	chr17:41464854..41467676-chr21:47705908..47707408,2	K562	blood:
4	chr21:47677887..47680451-chr21:47703023..47707250,4	MCF-7	breast:
5	chr21:47646904..47649112-chr21:47706461..47708002,3	MCF-7	breast:
6	chr21:47688197..47694019-chr21:47702332..47707246,9	MCF-7	breast:
7	chr21:47706653..47708384-chr21:47767921..47770700,2	MCF-7	breast:
8	chr21:47645527..47650637-chr21:47703398..47707562,6	MCF-7	breast:
9	chr21:47702524..47712328-chr21:47732975..47746274,46	K562	blood:
10	chr21:47705068..47711362-chr21:47735611..47740059,7	MCF-7	breast:
11	chr21:47702151..47710134-chr21:47741079..47747645,22	MCF-7	breast:
12	chr21:47571215..47574863-chr21:47704385..47707059,3	MCF-7	breast:
13	chr21:47705888..47707388-chr3:73158602..73161592,2	K562	blood:
14	chr21:47706221..47707965-chr21:47878068..47881386,3	K562	blood:
15	chr21:47687147..47689377-chr21:47705403..47707240,2	MCF-7	breast:
16	chr21:47705757..47707649-chr21:47877566..47879114,2	MCF-7	breast:
17	chr21:47648918..47651856-chr21:47704004..47707195,4	K562	blood:
18	chr21:47700722..47725192-chr21:47732201..47746452,77	K562	blood:
19	chr11:62609117..62610641-chr21:47705888..47707408,2	K562	blood:
20	chr21:47701944..47708797-chr21:47740125..47746082,20	MCF-7	breast:

No data

Variant related genes	Relation type
MCM3AP	TF binding region
ENSG00000133316	Chromatin interaction
ENSG00000160299	Chromatin interaction
ENSG00000215424	Chromatin interaction
ENSG00000160305	Chromatin interaction
ENSG00000237338	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000160298	Chromatin interaction
ENSG00000160294	Chromatin interaction
ENSG00000160285	Chromatin interaction
ENSG00000223247	Chromatin interaction

Extended variants
information (count: 129 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs12482209	0.85[ASN][1000 genomes]
rs12626725	0.82[ASN][1000 genomes]
rs12626873	0.86[ASN][1000 genomes]
rs13046451	0.84[ASN][1000 genomes]
rs13046494	0.97[ASN][1000 genomes]
rs13046834	0.82[ASN][1000 genomes]
rs13047198	0.83[ASN][1000 genomes]
rs13048439	0.81[ASN][1000 genomes]
rs13049175	0.84[ASN][1000 genomes]
rs13049759	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13049797	0.97[ASN][1000 genomes]
rs13050025	0.97[ASN][1000 genomes]
rs13050387	0.82[ASN][1000 genomes]
rs13050850	0.82[ASN][1000 genomes]
rs13051200	0.81[ASN][1000 genomes]
rs13051460	0.87[ASN][1000 genomes]
rs13051845	0.87[ASN][1000 genomes]
rs13052101	0.84[ASN][1000 genomes]
rs13052226	0.96[ASN][1000 genomes]
rs13052376	0.97[ASN][1000 genomes]
rs13052495	0.97[ASN][1000 genomes]
rs13052701	0.86[ASN][1000 genomes]
rs13052806	0.84[ASN][1000 genomes]
rs17176110	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17176131	0.83[ASN][1000 genomes]
rs17176261	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17176513	0.85[ASN][1000 genomes]
rs17176520	0.85[ASN][1000 genomes]
rs17182538	0.83[ASN][1000 genomes]
rs17183123	0.88[ASN][1000 genomes]
rs2001289	0.90[ASN][1000 genomes]
rs2011136	0.82[ASN][1000 genomes]
rs2014276	0.89[ASN][1000 genomes]
rs2032226	0.92[ASN][1000 genomes]
rs2156117	0.88[ASN][1000 genomes]
rs2250213	0.88[ASN][1000 genomes]
rs2276257	0.96[ASN][1000 genomes]
rs2277826	0.84[ASN][1000 genomes]
rs2280955	0.84[ASN][1000 genomes]
rs2280956	0.84[ASN][1000 genomes]
rs2280957	0.84[ASN][1000 genomes]
rs2280958	0.84[ASN][1000 genomes]
rs2280959	0.84[ASN][1000 genomes]
rs2330353	0.82[ASN][1000 genomes]
rs2839155	0.84[ASN][1000 genomes]
rs2839157	0.84[ASN][1000 genomes]
rs2839160	0.84[ASN][1000 genomes]
rs2839161	0.85[ASN][1000 genomes]
rs2839167	0.85[ASN][1000 genomes]
rs2839170	0.89[ASN][1000 genomes]
rs2839171	0.88[ASN][1000 genomes]
rs2839173	0.91[ASN][1000 genomes]
rs2839174	0.91[ASN][1000 genomes]
rs2839175	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2839176	0.92[ASN][1000 genomes]
rs2839178	0.81[ASN][1000 genomes]
rs2839180	0.81[ASN][1000 genomes]
rs2839184	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2839189	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2839194	0.82[ASN][1000 genomes]
rs2839196	0.95[ASN][1000 genomes]
rs2839197	0.97[ASN][1000 genomes]
rs2839199	0.95[ASN][1000 genomes]
rs2839200	0.97[ASN][1000 genomes]
rs2839984	0.88[ASN][1000 genomes]
rs34586434	0.92[ASN][1000 genomes]
rs35679325	0.84[ASN][1000 genomes]
rs35835424	0.83[ASN][1000 genomes]
rs35919888	0.86[ASN][1000 genomes]
rs3788252	0.82[ASN][1000 genomes]
rs4535149	0.82[ASN][1000 genomes]
rs4818832	0.97[ASN][1000 genomes]
rs4819217	0.84[ASN][1000 genomes]
rs4819218	0.82[ASN][1000 genomes]
rs4819222	0.92[ASN][1000 genomes]
rs4819223	0.95[ASN][1000 genomes]
rs4819225	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4819226	0.92[ASN][1000 genomes]
rs56840278	0.97[ASN][1000 genomes]
rs56955294	0.97[ASN][1000 genomes]
rs59828751	0.97[ASN][1000 genomes]
rs62223659	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62226484	0.89[ASN][1000 genomes]
rs62226486	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62226489	0.96[ASN][1000 genomes]
rs6518278	0.84[ASN][1000 genomes]
rs6518282	0.84[ASN][1000 genomes]
rs6518285	0.84[ASN][1000 genomes]
rs697806	0.81[ASN][1000 genomes]
rs7282763	0.80[ASN][1000 genomes]
rs8128380	0.88[ASN][1000 genomes]
rs8131458	0.80[ASN][1000 genomes]
rs915804	0.83[ASN][1000 genomes]
rs9984242	0.84[ASN][1000 genomes]
rs9984708	0.84[ASN][1000 genomes]
rs9984986	0.84[ASN][1000 genomes]
rs999691	0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
2	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
3	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
4	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
5	nsv1065959	chr21:47188878-48091343	Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	n/a
6	nsv531580	chr21:47221774-48090317	Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	n/a
7	nsv918103	chr21:47297067-48089510	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	n/a
8	nsv869002	chr21:47297268-47963186	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	n/a
9	nsv470910	chr21:47353775-48084988	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
10	nsv1059118	chr21:47398331-48090457	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
11	nsv544494	chr21:47398331-48090457	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
12	nsv934264	chr21:47401083-48090317	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
13	nsv1060978	chr21:47488073-47833640	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	n/a
14	nsv519904	chr21:47583506-47881309	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
15	nsv948761	chr21:47587940-48069930	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	n/a
16	nsv1055239	chr21:47591378-48090317	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
17	nsv544495	chr21:47591378-48090317	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
18	nsv933354	chr21:47609029-47851401	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
19	nsv949706	chr21:47625544-48069930	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
20	nsv914134	chr21:47632995-47712185	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	n/a
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	nsv587977	chr21:47704896-47713086	Flanking Active TSS Weak transcription Enhancers Active TSS 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	25 gene(s)	inside rSNPs	n/a
32	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

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs13049893	YBEY	cis	Stomach	GTEx
rs13049893	YBEY	cis	Artery Tibial	GTEx
rs13049893	MCM3AP	cis	Skin Sun Exposed Lower leg	GTEx
rs13049893	YBEY	cis	lung	GTEx
rs13049893	MCM3AP	cis	multi-tissue	Pritchard
rs13049893	YBEY	cis	Esophagus Mucosa	GTEx
rs13049893	MCM3AP	Cis_1M	lymphoblastoid	RTeQTL
rs13049893	YBEY	cis	Thyroid	GTEx
rs13049893	YBEY	cis	Artery Aorta	GTEx
rs13049893	YBEY	cis	Nerve Tibial	GTEx
rs13049893	YBEY	cis	Esophagus Muscularis	GTEx
rs13049893	MCM3AP-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs13049893	YBEY	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47704400-47707200	Active TSS	Right Atrium	heart
2	chr21:47704800-47707400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr21:47704800-47708000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr21:47705000-47707400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr21:47705000-47707400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr21:47705000-47707600	Active TSS	H1 Cell Line	embryonic stem cell
7	chr21:47705200-47707200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr21:47705200-47707200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr21:47705200-47707200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr21:47705200-47707200	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr21:47705200-47707200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr21:47705200-47707200	Active TSS	Aorta	Aorta
13	chr21:47705200-47707200	Active TSS	Placenta Amnion	Placenta Amnion
14	chr21:47705200-47707400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr21:47705200-47707400	Active TSS	Muscle Satellite Cultured Cells	--
16	chr21:47705200-47707400	Active TSS	A549	lung
17	chr21:47705200-47707400	Active TSS	GM12878-XiMat	blood
18	chr21:47705200-47707400	Active TSS	NHDF-Ad	bronchial
19	chr21:47705200-47707400	Active TSS	NHEK	skin
20	chr21:47705200-47707600	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr21:47705400-47707200	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr21:47705400-47707200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr21:47705400-47707200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr21:47705400-47707200	Active TSS	Colonic Mucosa	Colon
25	chr21:47705400-47707200	Active TSS	Fetal Kidney	kidney
26	chr21:47705400-47707200	Active TSS	Placenta	Placenta
27	chr21:47705400-47707200	Active TSS	Fetal Stomach	stomach
28	chr21:47705400-47707400	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr21:47705400-47707400	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr21:47705400-47707400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr21:47705400-47707400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr21:47705400-47707400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr21:47705400-47707400	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr21:47705400-47707400	Active TSS	Fetal Intestine Small	intestine
35	chr21:47705400-47707400	Active TSS	HSMM	muscle
36	chr21:47705400-47707600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr21:47705400-47707600	Active TSS	NHLF	lung
38	chr21:47705400-47707800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr21:47705600-47707200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr21:47705600-47707200	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr21:47705600-47707200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr21:47705600-47707200	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr21:47705600-47707200	Active TSS	Thymus	Thymus
44	chr21:47705800-47707800	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr21:47706200-47707800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr21:47706400-47707200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr21:47706400-47707200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr21:47706600-47707200	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr21:47706600-47707200	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr21:47706600-47707200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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