Variant report

Variant	rs13047696
Chromosome Location	chr21:48027177-48027178
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47980753..47982887-chr21:48026648..48028879,2	MCF-7	breast:
2	chr21:48025603..48028303-chr21:48029330..48031658,3	MCF-7	breast:
3	chr21:48025522..48028149-chr21:48060514..48063166,2	MCF-7	breast:
4	chr21:48024575..48027546-chr21:48055306..48056858,2	K562	blood:
5	chr21:48017941..48023722-chr21:48025363..48028133,5	K562	blood:
6	chr21:48021498..48023722-chr21:48025363..48027869,3	K562	blood:

Variant related genes	Relation type
ENSG00000160307	Chromatin interaction
ENSG00000160310	Chromatin interaction
ENSG00000160305	Chromatin interaction

Extended variants
information (count: 133 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10854482	0.81[JPT][hapmap]
rs11089076	0.81[JPT][hapmap]
rs11089086	0.93[ASN][1000 genomes]
rs11910707	0.85[EUR][1000 genomes]
rs11911126	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12627695	0.81[JPT][hapmap]
rs13047179	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13048006	0.95[ASN][1000 genomes]
rs13048959	0.82[ASN][1000 genomes]
rs13049010	0.91[ASN][1000 genomes]
rs13050788	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13051640	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13051747	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17371795	0.81[JPT][hapmap]
rs2032110	0.81[JPT][hapmap]
rs2070429	0.82[CEU][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[ASN][1000 genomes]
rs2070431	0.84[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.89[ASN][1000 genomes]
rs2078203	0.81[JPT][hapmap]
rs2211885	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2226381	0.91[ASN][1000 genomes]
rs2239574	0.87[CEU][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2255526	0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs2300404	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2300405	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2330591	0.81[JPT][hapmap]
rs2839251	0.81[JPT][hapmap]
rs2839262	0.81[JPT][hapmap]
rs2839267	0.81[JPT][hapmap]
rs2839271	0.81[JPT][hapmap]
rs2839273	0.81[JPT][hapmap]
rs2839274	0.81[JPT][hapmap]
rs2839283	0.81[JPT][hapmap]
rs2839292	0.81[JPT][hapmap]
rs2839321	0.87[CEU][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.83[MEX][hapmap]
rs2839365	0.86[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs28523340	0.81[AMR][1000 genomes]
rs34529071	0.88[ASN][1000 genomes]
rs34599663	0.90[ASN][1000 genomes]
rs34722617	0.87[CEU][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3788266	0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs4143362	0.81[JPT][hapmap]
rs4818846	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6518304	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67935828	0.90[ASN][1000 genomes]
rs7282126	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7282296	0.81[JPT][hapmap]
rs7282904	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7283908	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7284000	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs762251	0.81[JPT][hapmap]
rs8127280	0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs8128043	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8128872	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8130477	0.94[ASN][1000 genomes]
rs8132320	0.81[JPT][hapmap]
rs8132624	0.87[ASN][1000 genomes]
rs8134014	0.81[JPT][hapmap]
rs8134550	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8134832	0.81[JPT][hapmap]
rs9637222	0.86[JPT][hapmap]
rs9647249	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs993461	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9975257	0.89[ASN][1000 genomes]
rs9978658	0.86[CHB][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs9979329	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9979500	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9979673	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9979822	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9979962	0.81[JPT][hapmap];0.83[MEX][hapmap]
rs9980033	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9980115	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9980187	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9984399	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv933061	chr21:47746204-48031515	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	n/a
14	nsv1062858	chr21:47750884-48091343	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
15	nsv1058397	chr21:47851176-48091343	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
16	nsv1065502	chr21:47865215-48091343	Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
17	nsv1061442	chr21:47875370-48091343	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
18	nsv1059466	chr21:47894705-48096945	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	n/a
19	nsv1061185	chr21:47901250-48096945	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	n/a
20	nsv1057566	chr21:47915583-48029698	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	n/a
21	nsv587999	chr21:47941916-48103851	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
22	nsv1058589	chr21:47948030-48091343	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers 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	38 gene(s)	inside rSNPs	n/a
23	nsv1057643	chr21:47953820-48056600	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	n/a
24	nsv544497	chr21:47953820-48056600	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	n/a
25	nsv1056734	chr21:47970933-48096945	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
26	esv2760700	chr21:47974055-48054776	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	n/a
27	nsv1062457	chr21:47975809-48096945	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
28	nsv914148	chr21:47979801-48050388	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	n/a
29	nsv1058462	chr21:47980278-48096945	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
30	nsv1060043	chr21:47981878-48048087	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	n/a
31	nsv1060740	chr21:47981878-48050534	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	n/a
32	nsv1059187	chr21:47981878-48052169	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	n/a
33	nsv1066052	chr21:47982925-48050534	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	n/a
34	nsv1062401	chr21:47983657-48066477	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	n/a
35	nsv1065227	chr21:47985655-48036224	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	n/a
36	nsv1061638	chr21:47985655-48088263	Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
37	nsv1059012	chr21:47985655-48096945	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS 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
38	nsv528947	chr21:47986083-48050388	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS 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 miRNA target site	3 gene(s)	inside rSNPs	n/a
39	nsv1066397	chr21:47986670-48050534	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	n/a
40	esv2756756	chr21:47986670-48077812	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	n/a
41	esv2758822	chr21:47986670-48077812	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	n/a
42	nsv1055904	chr21:47986670-48096945	Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
43	nsv1064633	chr21:47987013-48096945	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
44	nsv1059493	chr21:47990008-48096945	Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	n/a
45	nsv1063191	chr21:47992710-48096945	ZNF genes & repeats Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	n/a
46	nsv459314	chr21:47995443-48072916	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	n/a
47	nsv588002	chr21:47995443-48072916	Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	n/a
48	nsv1060610	chr21:48004056-48096945	Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	n/a
49	esv34393	chr21:48015672-48077812	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	n/a
50	nsv527542	chr21:48015869-48027880	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs13047696	C21orf57	cis	multi-tissue	Pritchard
rs13047696	S100B	cis	Adipose Subcutaneous	GTEx
rs13047696	LRRC3	cis	cerebellum	SCAN
rs13047696	C21orf56	cis	parietal	SCAN
rs13047696	HRMT1L1	cis	multi-tissue	Pritchard
rs13047696	C21orf57	Cis_1M	lymphoblastoid	RTeQTL
rs13047696	YBEY	cis	lymphoblastoid	seeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:48024400-48028000	Enhancers	Fetal Thymus	thymus
2	chr21:48024600-48028000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr21:48024800-48027200	Enhancers	Primary B cells from cord blood	blood
4	chr21:48024800-48027200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr21:48024800-48027200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
6	chr21:48024800-48027600	Enhancers	Primary T cells fromperipheralblood	blood
7	chr21:48024800-48027600	Enhancers	Primary hematopoietic stem cells	blood
8	chr21:48025000-48027200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr21:48025000-48027400	Enhancers	Brain Angular Gyrus	brain
10	chr21:48025600-48027200	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr21:48025800-48027600	Enhancers	Brain Anterior Caudate	brain
12	chr21:48025800-48028800	Enhancers	Brain Hippocampus Middle	brain
13	chr21:48025800-48054800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr21:48026000-48027600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr21:48026200-48027200	Enhancers	Brain Substantia Nigra	brain
16	chr21:48026200-48027600	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr21:48026200-48028000	Enhancers	Brain Cingulate Gyrus	brain
18	chr21:48026400-48027200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr21:48026600-48027400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr21:48026600-48027800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr21:48026600-48028000	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr21:48026600-48028400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr21:48026600-48028600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr21:48026600-48028800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr21:48026600-48028800	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr21:48026600-48029400	Enhancers	Primary T cells from cord blood	blood
27	chr21:48026600-48030400	Weak transcription	Thymus	Thymus
28	chr21:48026600-48040000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr21:48026800-48040000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr21:48027000-48027600	Enhancers	GM12878-XiMat	blood
31	chr21:48027000-48028800	Weak transcription	Primary B cells from peripheral blood	blood

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