Variant report

Variant	rs2255828
Chromosome Location	chr21:45491915-45491916
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45485665..45487359-chr21:45490550..45492983,2	K562	blood:
2	chr21:45490699..45492902-chr21:45525722..45528535,2	K562	blood:
3	chr21:45430466..45432473-chr21:45490095..45492066,2	K562	blood:
4	chr21:45486005..45488268-chr21:45490821..45492740,2	MCF-7	breast:
5	chr21:45485859..45488146-chr21:45491483..45493752,2	K562	blood:
6	chr21:45474928..45477593-chr21:45490413..45492194,2	K562	blood:

Variant related genes	Relation type
ENSG00000160218	Chromatin interaction
ENSG00000241945	Chromatin interaction

Extended variants
information (count: 171 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:162)

rs_ID	r²[population]
rs1005046	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs1051981	0.83[CEU][hapmap];0.88[TSI][hapmap]
rs1059813	0.80[ASN][1000 genomes]
rs10854489	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11089111	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11089115	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs1131999	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11700919	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12627239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13046297	0.94[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap]
rs13049059	0.95[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap]
rs13050630	0.96[ASN][1000 genomes]
rs1858665	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2020945	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2020946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2020947	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2020948	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2039272	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2071135	0.80[CEU][hapmap]
rs2071142	0.83[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2071143	0.83[ASW][hapmap];0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2071146	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2071147	0.80[ASN][1000 genomes]
rs2071152	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2073432	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs2073433	0.94[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap]
rs2156428	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2187313	0.83[CEU][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap]
rs2238704	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.86[ASN][1000 genomes]
rs2238705	0.86[ASN][1000 genomes]
rs2238706	0.86[ASN][1000 genomes]
rs2238707	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2238708	0.86[ASN][1000 genomes]
rs2238709	0.81[ASN][1000 genomes]
rs2238710	0.86[ASN][1000 genomes]
rs2238711	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2238712	0.86[ASN][1000 genomes]
rs2238713	0.80[ASN][1000 genomes]
rs2242950	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2242953	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2242954	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs2243348	0.93[ASN][1000 genomes]
rs2243999	0.88[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.81[MEX][hapmap];0.94[MKK][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2245372	0.94[ASN][1000 genomes]
rs2245380	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2245386	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2245462	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2245759	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2247400	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2251267	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.80[ASN][1000 genomes]
rs2255716	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2255922	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2255955	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs2256392	0.86[ASN][1000 genomes]
rs2256441	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.86[ASN][1000 genomes]
rs2276530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2277805	0.89[CEU][hapmap];0.88[TSI][hapmap]
rs2277806	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2299812	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2299813	0.86[ASN][1000 genomes]
rs2299815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2299818	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2299820	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2329707	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2516519	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2516521	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2776368	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2838464	0.85[TSI][hapmap]
rs2838466	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2838467	0.84[ASN][1000 genomes]
rs2838468	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2838469	0.89[CEU][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs2838471	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2838472	0.84[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs2838473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2838474	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2838476	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.91[ASN][1000 genomes]
rs2838477	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2838478	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2838480	0.94[ASN][1000 genomes]
rs2838481	0.96[ASN][1000 genomes]
rs2838482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838483	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2838485	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2838486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838488	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2838489	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2838490	0.83[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.80[ASN][1000 genomes]
rs2838491	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.80[ASN][1000 genomes]
rs2838492	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2838493	0.88[CEU][hapmap]
rs2838494	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2838496	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2838499	0.80[AMR][1000 genomes]
rs2838502	0.87[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.83[LWK][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap]
rs2838503	0.82[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap]
rs2838508	0.88[TSI][hapmap]
rs2838509	0.81[TSI][hapmap]
rs2850150	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2850155	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2850156	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2850157	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2855651	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2855652	0.83[AMR][1000 genomes]
rs28859288	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35610725	0.96[ASN][1000 genomes]
rs3788097	0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3788098	0.84[ASN][1000 genomes]
rs3788101	0.89[ASN][1000 genomes]
rs4818878	0.86[ASN][1000 genomes]
rs4818881	0.94[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs4819366	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4819370	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4819372	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4819373	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4819376	0.83[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4819377	0.80[ASN][1000 genomes]
rs4819378	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4819379	0.80[ASN][1000 genomes]
rs4819383	0.94[CEU][hapmap]
rs56384549	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6518345	0.84[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs7277269	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7279727	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7280558	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.89[JPT][hapmap];0.82[TSI][hapmap]
rs7280581	0.80[ASN][1000 genomes]
rs7281270	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7281768	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7281778	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7282324	0.83[CEU][hapmap]
rs7282643	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs729882	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs756553	0.80[AMR][1000 genomes]
rs756554	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap]
rs756555	0.94[CEU][hapmap];0.82[CHB][hapmap]
rs7676	0.83[CEU][hapmap];0.82[TSI][hapmap]
rs8126564	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs8126754	0.86[ASN][1000 genomes]
rs8126958	0.88[CHB][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap]
rs8129971	0.86[ASN][1000 genomes]
rs8130647	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8132918	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8133422	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8133610	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs885872	0.83[CEU][hapmap];0.82[TSI][hapmap]
rs915772	0.85[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs915774	0.82[ASW][hapmap];0.85[CEU][hapmap];0.95[GIH][hapmap]
rs915878	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9306171	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs9306172	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9306174	0.94[ASN][1000 genomes]
rs968713	0.83[CEU][hapmap]
rs968714	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.80[ASN][1000 genomes]
rs9974165	0.86[ASN][1000 genomes]
rs9974315	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9975708	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9975978	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9977564	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9978130	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9981257	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9981485	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9982663	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv459293	chr21:45415913-45555079	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers 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	39 gene(s)	inside rSNPs	diseases
4	nsv587721	chr21:45415913-45555079	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1064549	chr21:45446358-45493720	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
8	nsv432155	chr21:45479055-45772388	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
9	nsv913890	chr21:45482950-45603746	Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs2255828	C21orf129	cis	cerebellum	SCAN
rs2255828	PWP2	cis	lymphoblastoid	seeQTL
rs2255828	PWP2	Cis_1M	lymphoblastoid	RTeQTL
rs2255828	TRAPPC10	cis	cerebellum	SCAN
rs2255828	ABCG1	cis	cerebellum	SCAN
rs2255828	PWP2	cis	parietal	SCAN
rs2255828	ABCG1	cis	parietal	SCAN
rs2255828	C21orf33	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45445400-45509400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:45446400-45502200	Weak transcription	Fetal Heart	heart
3	chr21:45451000-45494400	Weak transcription	Fetal Brain Male	brain
4	chr21:45468400-45502400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr21:45468800-45502600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr21:45469400-45502000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr21:45471800-45495400	Strong transcription	Fetal Muscle Leg	muscle
8	chr21:45471800-45502200	Strong transcription	Fetal Intestine Small	intestine
9	chr21:45472000-45494200	Weak transcription	Psoas Muscle	Psoas
10	chr21:45472000-45502600	Strong transcription	Duodenum Mucosa	Duodenum
11	chr21:45472600-45504400	Strong transcription	Fetal Stomach	stomach
12	chr21:45472800-45503800	Strong transcription	Liver	Liver
13	chr21:45473000-45526600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr21:45475000-45493000	Strong transcription	Fetal Muscle Trunk	muscle
15	chr21:45475000-45502600	Weak transcription	Right Atrium	heart
16	chr21:45475200-45494000	Weak transcription	Fetal Kidney	kidney
17	chr21:45481400-45498400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr21:45481600-45502400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr21:45481600-45510800	Strong transcription	Dnd41	blood
20	chr21:45481600-45523800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr21:45481800-45502600	Strong transcription	Left Ventricle	heart
22	chr21:45481800-45503800	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr21:45482000-45503000	Strong transcription	Primary B cells from cord blood	blood
24	chr21:45482200-45493000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr21:45484000-45494000	Weak transcription	Ovary	ovary
26	chr21:45484400-45494200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr21:45484400-45496200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr21:45484600-45494400	Weak transcription	Fetal Lung	lung
29	chr21:45484600-45496000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr21:45484800-45493200	Weak transcription	NH-A	brain
31	chr21:45485400-45498600	Weak transcription	Stomach Mucosa	stomach
32	chr21:45485600-45502200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr21:45485800-45494000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr21:45485800-45502200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr21:45485800-45506800	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr21:45485800-45506800	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr21:45486000-45493600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr21:45486000-45502000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr21:45486000-45503000	Strong transcription	Primary B cells from peripheral blood	blood
40	chr21:45486200-45495200	Strong transcription	Primary T cells from cord blood	blood
41	chr21:45486200-45495400	Strong transcription	Placenta	Placenta
42	chr21:45486200-45503400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr21:45486200-45524000	Strong transcription	GM12878-XiMat	blood
44	chr21:45486400-45494000	Weak transcription	HUVEC	blood vessel
45	chr21:45486400-45501000	Strong transcription	Fetal Thymus	thymus
46	chr21:45486400-45501000	Strong transcription	Thymus	Thymus
47	chr21:45486400-45501800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr21:45487000-45492200	Strong transcription	K562	blood
49	chr21:45487000-45498000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr21:45487000-45498000	Strong transcription	Primary T helper cells fromperipheralblood	blood

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