Variant report

Variant	rs2839181
Chromosome Location	chr21:47685939-47685940
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47685582..47687708-chr21:47742870..47745120,2	K562	blood:
2	chr21:47673957..47677589-chr21:47684900..47687101,3	MCF-7	breast:
3	chr21:47684242..47686410-chr21:47704277..47706154,2	MCF-7	breast:
4	chr21:47684294..47686629-chr21:47687169..47689868,2	MCF-7	breast:
5	chr21:47681971..47687315-chr21:47701766..47706280,5	K562	blood:
6	chr21:47685253..47687082-chr21:47738865..47741678,2	K562	blood:
7	chr21:47648381..47651139-chr21:47684651..47687035,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160298	Chromatin interaction
ENSG00000215424	Chromatin interaction
ENSG00000239415	Chromatin interaction
ENSG00000182362	Chromatin interaction
ENSG00000160299	Chromatin interaction
ENSG00000160294	Chromatin interaction
ENSG00000160285	Chromatin interaction

Extended variants
information (count: 131 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs12482209	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.89[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12626725	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13046494	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13046834	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13047115	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13047198	0.96[ASN][1000 genomes]
rs13049759	0.96[ASN][1000 genomes]
rs13049797	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13050025	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13050387	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13051200	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13051845	0.85[EUR][1000 genomes]
rs13052226	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13052376	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13052495	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13052701	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17176110	0.81[ASN][1000 genomes]
rs17176131	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17176261	0.93[ASN][1000 genomes]
rs17176513	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17176520	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17182538	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17182671	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17183123	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2001289	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2011136	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2014276	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2032226	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2156117	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2187118	0.94[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap]
rs2187121	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs2250213	0.84[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2254524	0.94[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap]
rs2276257	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2277826	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2280955	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2280956	0.94[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs2280957	0.94[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap]
rs2280958	0.89[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.84[TSI][hapmap]
rs2280959	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2330353	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2330408	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs2839139	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs2839141	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs2839146	0.94[CHB][hapmap];0.84[CHD][hapmap];0.88[JPT][hapmap]
rs2839155	0.94[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs2839157	0.94[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs2839160	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap]
rs2839167	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2839169	0.89[LWK][hapmap];0.90[YRI][hapmap]
rs2839170	0.94[ASW][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.96[MKK][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2839171	1.00[ASW][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.86[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2839173	0.94[ASW][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.84[MKK][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2839174	0.89[ASW][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2839175	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2839176	1.00[ASW][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2839178	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs2839183	0.83[ASW][hapmap];0.91[LWK][hapmap];0.80[YRI][hapmap];0.85[AFR][1000 genomes]
rs2839184	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2839186	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2839188	0.89[CHD][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs2839189	0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2839191	0.96[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2839194	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2839196	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2839197	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2839199	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2839200	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2839984	1.00[ASW][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2968	0.94[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap]
rs34586434	0.89[EUR][1000 genomes]
rs35459806	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35919888	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3788252	1.00[ASW][hapmap];0.81[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.89[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs4535149	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4818828	0.94[CHB][hapmap];0.93[JPT][hapmap]
rs4818829	0.81[CHB][hapmap]
rs4818832	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4819214	0.94[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap]
rs4819216	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs4819221	0.92[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4819222	0.93[EUR][1000 genomes]
rs4819223	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4819225	0.94[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs56840278	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56955294	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59828751	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62223659	0.97[ASN][1000 genomes]
rs62226484	0.82[EUR][1000 genomes]
rs62226486	0.80[ASN][1000 genomes]
rs62226489	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6518278	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs7282763	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7282841	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs7409792	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8128380	0.85[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs8131458	0.96[ASN][1000 genomes]
rs914247	0.94[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap]
rs915804	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9637172	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9717	0.94[CHB][hapmap];0.84[CHD][hapmap];0.88[JPT][hapmap]
rs9980536	0.81[JPT][hapmap]
rs9984708	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs999691	0.94[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:27 , 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	nsv587976	chr21:47676711-47687144	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a
25	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
26	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
27	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

mRNA abundance (count:20)

SNP	Gene	Cis/trans	Tissue	Source
rs2839181	MCM3APAS	cis	parietal	SCAN
rs2839181	MCM3AP	cis	multi-tissue	Pritchard
rs2839181	YBEY	cis	Nerve Tibial	GTEx
rs2839181	YBEY	cis	Artery Aorta	GTEx
rs2839181	CSRP2	trans	lymphoblastoid	seeQTL
rs2839181	YBEY	cis	Thyroid	GTEx
rs2839181	C21orf56	cis	parietal	SCAN
rs2839181	C21orf57	cis	parietal	SCAN
rs2839181	YBEY	cis	Whole Blood	GTEx
rs2839181	S100B	cis	parietal	SCAN
rs2839181	MCM3AP	cis	lymphoblastoid	seeQTL
rs2839181	YBEY	cis	Esophagus Mucosa	GTEx
rs2839181	YBEY	cis	Stomach	GTEx
rs2839181	MCM3AP	cis	cerebellum	SCAN
rs2839181	YBEY	cis	lung	GTEx
rs2839181	MCM3AP	cis	Skin Sun Exposed Lower leg	GTEx
rs2839181	PCNT	cis	parietal	SCAN
rs2839181	YBEY	cis	Esophagus Muscularis	GTEx
rs2839181	C21orf57	cis	cerebellum	SCAN
rs2839181	YBEY	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47649800-47701600	Weak transcription	Right Atrium	heart
2	chr21:47650000-47705200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr21:47650800-47701000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr21:47650800-47701400	Strong transcription	Fetal Muscle Leg	muscle
5	chr21:47650800-47701600	Strong transcription	Fetal Stomach	stomach
6	chr21:47651000-47703200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:47651200-47701400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr21:47651600-47703000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr21:47651600-47703200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr21:47651800-47701400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr21:47651800-47702600	Strong transcription	Osteobl	bone
12	chr21:47652000-47701000	Strong transcription	Duodenum Mucosa	Duodenum
13	chr21:47652000-47703000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr21:47652200-47701600	Strong transcription	Fetal Thymus	thymus
15	chr21:47652400-47702000	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr21:47652800-47702200	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr21:47653000-47701600	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr21:47653200-47696000	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr21:47653200-47702000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr21:47653400-47686000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr21:47653600-47701800	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr21:47653600-47702400	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr21:47658200-47702200	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr21:47658400-47702800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr21:47658600-47696000	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr21:47658600-47696000	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr21:47658600-47701400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr21:47658600-47702600	Strong transcription	Fetal Muscle Trunk	muscle
29	chr21:47658600-47703000	Strong transcription	Placenta	Placenta
30	chr21:47658600-47703200	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr21:47658600-47703600	Strong transcription	Fetal Intestine Large	intestine
32	chr21:47658800-47695800	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr21:47658800-47696000	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr21:47658800-47699800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr21:47658800-47700600	Strong transcription	Stomach Smooth Muscle	stomach
36	chr21:47662600-47701400	Strong transcription	Fetal Intestine Small	intestine
37	chr21:47665200-47703600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr21:47665400-47701400	Strong transcription	Thymus	Thymus
39	chr21:47666800-47701800	Strong transcription	Liver	Liver
40	chr21:47670800-47701000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr21:47671600-47703000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr21:47673400-47691200	Strong transcription	Rectal Smooth Muscle	rectum
43	chr21:47674000-47701400	Strong transcription	Lung	lung
44	chr21:47674400-47696000	Strong transcription	Primary T cells from cord blood	blood
45	chr21:47674400-47701000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr21:47674600-47699400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr21:47674600-47699400	Strong transcription	Dnd41	blood
48	chr21:47674600-47700400	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr21:47674600-47700600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr21:47674600-47701000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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