Variant report

Variant	rs2239574
Chromosome Location	chr21:48019811-48019812
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:48019242..48021637-chr21:48023777..48026826,3	MCF-7	breast:
2	chr21:48013557..48016686-chr21:48017781..48019868,3	MCF-7	breast:
3	chr21:48017805..48022026-chr21:48053687..48056894,4	K562	blood:

Variant related genes	Relation type
ENSG00000160307	Chromatin interaction
ENSG00000160310	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10854482	0.81[JPT][hapmap]
rs11089076	0.81[JPT][hapmap]
rs11089086	0.92[ASN][1000 genomes]
rs11911126	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12627695	0.81[JPT][hapmap]
rs13047179	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13047696	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]
rs13048006	0.92[ASN][1000 genomes]
rs13048959	0.85[ASN][1000 genomes]
rs13049010	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13050788	0.92[ASN][1000 genomes]
rs13051640	0.92[ASN][1000 genomes]
rs13051747	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17371795	0.81[JPT][hapmap]
rs2032110	0.81[JPT][hapmap];0.82[MEX][hapmap]
rs2070429	0.87[CEU][hapmap];0.84[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2070431	1.00[ASW][hapmap];0.91[CEU][hapmap];0.84[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.80[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2078203	0.81[JPT][hapmap]
rs2211885	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2226381	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2255526	0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs2300404	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2300405	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2330591	0.81[JPT][hapmap]
rs2839251	0.81[JPT][hapmap]
rs2839262	0.81[JPT][hapmap];0.82[MEX][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	0.92[ASW][hapmap];0.87[CEU][hapmap];0.92[CHB][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap];0.84[LWK][hapmap];0.91[MEX][hapmap];0.82[AMR][1000 genomes]
rs2839365	0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs2839378	0.83[LWK][hapmap]
rs34529071	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34599663	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34722617	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788266	0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs4143362	0.81[JPT][hapmap]
rs4818846	0.96[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6518304	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67935828	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7282126	0.87[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7282296	0.81[JPT][hapmap]
rs7282904	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7283908	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7284000	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs762251	0.81[JPT][hapmap]
rs8127280	0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs8128043	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8128872	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8130477	0.91[ASN][1000 genomes]
rs8132320	0.81[JPT][hapmap];0.82[MEX][hapmap]
rs8132624	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8134014	0.81[JPT][hapmap]
rs8134550	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8134832	0.81[JPT][hapmap]
rs9637222	0.86[JPT][hapmap]
rs9647249	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs993461	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9975257	0.86[ASN][1000 genomes]
rs9978658	0.84[CHD][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs9979329	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9979500	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9979673	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9979822	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9979962	0.81[JPT][hapmap];0.82[MEX][hapmap]
rs9980033	0.92[ASN][1000 genomes]
rs9980115	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9980187	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9984399	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:54 , 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	nsv530334	chr21:47987100-48022981	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking 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
45	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
46	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
47	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
48	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
49	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
50	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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2239574	S100B	cis	Adipose Subcutaneous	GTEx
rs2239574	S100B	cis	cerebellum	SCAN
rs2239574	TMPRSS3	cis	parietal	SCAN
rs2239574	C21orf57	cis	cerebellum	SCAN
rs2239574	LSS	cis	cerebellum	SCAN
rs2239574	C21orf56	cis	parietal	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:48017600-48020200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr21:48017800-48020800	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr21:48018000-48020600	Enhancers	Ovary	ovary
4	chr21:48018000-48022200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr21:48018000-48024600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr21:48018000-48025000	Weak transcription	Spleen	Spleen
7	chr21:48018400-48020800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr21:48018400-48021600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:48018600-48020000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr21:48018600-48020000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr21:48018600-48020000	Enhancers	NHLF	lung
12	chr21:48018600-48020200	Enhancers	HUVEC	blood vessel
13	chr21:48018600-48020400	Enhancers	Primary T cells from cord blood	blood
14	chr21:48018600-48020400	Enhancers	Adipose Nuclei	Adipose
15	chr21:48018600-48020400	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr21:48018600-48020600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr21:48018600-48020600	Enhancers	Fetal Muscle Leg	muscle
18	chr21:48018600-48020800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr21:48018600-48021000	Enhancers	Brain Angular Gyrus	brain
20	chr21:48018600-48021200	Enhancers	Brain Anterior Caudate	brain
21	chr21:48018600-48022200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr21:48018600-48022600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
23	chr21:48018600-48022800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr21:48018600-48023200	Enhancers	K562	blood
25	chr21:48018800-48020000	Enhancers	Osteobl	bone
26	chr21:48018800-48024600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr21:48019000-48020000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr21:48019200-48020000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr21:48019200-48020800	Genic enhancers	Brain Cingulate Gyrus	brain
30	chr21:48019200-48020800	Enhancers	HepG2	liver
31	chr21:48019200-48021000	Enhancers	Brain Hippocampus Middle	brain
32	chr21:48019200-48021200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr21:48019200-48022200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr21:48019200-48024400	Weak transcription	Right Atrium	heart
35	chr21:48019400-48020800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr21:48019400-48021000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr21:48019400-48021200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr21:48019400-48022200	Weak transcription	Placenta	Placenta
39	chr21:48019400-48022600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr21:48019400-48022600	Weak transcription	Fetal Stomach	stomach
41	chr21:48019400-48023800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr21:48019400-48024400	Weak transcription	Fetal Thymus	thymus
43	chr21:48019400-48024800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr21:48019400-48024800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr21:48019600-48020800	Genic enhancers	Brain Substantia Nigra	brain
46	chr21:48019600-48020800	Weak transcription	Stomach Mucosa	stomach
47	chr21:48019600-48022400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr21:48019600-48024600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr21:48019800-48020000	Enhancers	Fetal Kidney	kidney
50	chr21:48019800-48021000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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