Variant report

Variant	rs177426
Chromosome Location	chr22:20929782-20929783
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:20929769..20932115-chr22:20933201..20936418,3	MCF-7	breast:
2	chr22:20929485..20931010-chr22:20968363..20970384,2	K562	blood:
3	chr22:20860719..20864183-chr22:20928777..20933551,4	K562	blood:
4	chr22:20850673..20853257-chr22:20929746..20931886,2	K562	blood:
5	chr22:20929039..20931113-chr22:20938812..20941036,3	K562	blood:
6	chr22:20928065..20930792-chr22:20941732..20944708,2	MCF-7	breast:
7	chr22:20928759..20930447-chr22:20943047..20944679,2	K562	blood:

Variant related genes	Relation type
ENSG00000099917	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1638037	0.92[CEU][hapmap];0.95[CHB][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs165600	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs165609	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];0.92[ASN][1000 genomes]
rs165615	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs165664	1.00[CEU][hapmap];0.86[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs165671	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs165674	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs165727	0.95[CHB][hapmap];0.82[JPT][hapmap];0.94[ASN][1000 genomes]
rs165749	0.95[CHB][hapmap];0.81[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs165752	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs165755	0.89[ASN][1000 genomes]
rs165765	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs165792	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];0.92[ASN][1000 genomes]
rs165802	0.99[ASN][1000 genomes]
rs165829	0.95[CHB][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs165833	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs165842	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs165846	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs165874	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs165884	0.93[ASN][1000 genomes]
rs165908	0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.96[ASN][1000 genomes]
rs177419	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs177421	0.82[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.82[JPT][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs177424	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2269830	1.00[CEU][hapmap];0.81[CHD][hapmap];0.98[GIH][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2269831	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2876824	0.81[EUR][1000 genomes]
rs4821945	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4821961	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4821962	0.95[CHB][hapmap];0.81[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4821963	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];0.94[ASN][1000 genomes]
rs4821967	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5757702	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5757755	0.85[EUR][1000 genomes]
rs5757994	0.95[CHB][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs7292126	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs886319	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];0.92[ASN][1000 genomes]
rs94001	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9608082	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518950	chr22:20306993-20965555	Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
2	nsv432174	chr22:20309346-21102446	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
3	nsv1056614	chr22:20470598-21462724	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised 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 miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv491637	chr22:20659547-21440514	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
5	nsv916634	chr22:20659547-21464119	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
6	nsv533942	chr22:20659547-21505417	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Enhancers 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 lncRNA miRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
7	nsv529472	chr22:20659547-21561514	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
8	nsv914390	chr22:20697466-21460008	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
9	nsv588291	chr22:20698139-21461274	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
10	nsv917647	chr22:20708889-21440515	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
11	nsv531742	chr22:20708890-21407690	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
12	nsv533852	chr22:20708890-21561514	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
13	nsv1061867	chr22:20716924-21462446	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
14	nsv1058870	chr22:20716924-21567219	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
15	nsv918225	chr22:20716924-21611338	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
16	nsv914393	chr22:20718116-21034788	Genic enhancers Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
17	nsv531744	chr22:20718170-21427936	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
18	nsv915954	chr22:20732437-21505417	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
19	nsv588293	chr22:20732809-21004476	Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
20	nsv948669	chr22:20732809-21461607	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
21	nsv531746	chr22:20733427-21505417	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
22	nsv588294	chr22:20733495-21365384	Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
23	nsv588295	chr22:20733495-21462353	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers 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 miRNA target site	99 gene(s)	inside rSNPs	diseases
24	nsv588296	chr22:20733495-21465780	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
25	nsv1056065	chr22:20734244-21460658	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
26	nsv544586	chr22:20734244-21460658	Strong transcription Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
27	nsv1067074	chr22:20739124-21440654	Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription 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 miRNA target site	99 gene(s)	inside rSNPs	diseases
28	nsv544587	chr22:20739124-21440654	Weak transcription Strong transcription Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
29	nsv1066482	chr22:20739125-21440655	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
30	nsv544588	chr22:20739125-21440655	Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
31	nsv1063333	chr22:20739324-21353297	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
32	nsv544590	chr22:20739324-21353297	Genic enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
33	nsv1059978	chr22:20739324-21440515	Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
34	nsv544591	chr22:20739324-21440515	Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
35	nsv949306	chr22:20742450-21461607	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
36	nsv523162	chr22:20743536-21462353	Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
37	nsv1056565	chr22:20745762-21460658	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
38	nsv529335	chr22:20748976-21499971	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
39	nsv533337	chr22:20754407-21440515	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
40	nsv918090	chr22:20754421-21505417	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
41	nsv491620	chr22:20754422-21440514	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
42	nsv1067639	chr22:20754422-21505417	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
43	nsv529720	chr22:20754422-21505417	Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
44	nsv834138	chr22:20759359-20951242	Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
45	nsv1058923	chr22:20855359-21000991	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
46	nsv1065938	chr22:20863293-20992701	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
47	nsv544593	chr22:20863293-20992701	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS 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	21 gene(s)	inside rSNPs	diseases
48	nsv995094	chr22:20895155-21374512	Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
49	nsv1062650	chr22:20899377-21034809	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
50	esv1834004	chr22:20899851-20946403	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription 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	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs177426	SCARF2	cis	lymphoblastoid	seeQTL
rs177426	PCQAP	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:20911800-20931000	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr22:20913800-20942000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr22:20914000-20946000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr22:20914400-20934600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr22:20914400-20941800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr22:20914400-20942000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:20917600-20942400	Strong transcription	Fetal Brain Female	brain
8	chr22:20918600-20942800	Strong transcription	Brain Germinal Matrix	brain
9	chr22:20918800-20930600	Strong transcription	K562	blood
10	chr22:20918800-20942600	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr22:20918800-20942800	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr22:20919000-20933600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr22:20919000-20934400	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr22:20919400-20933400	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr22:20921400-20931000	Strong transcription	Brain Angular Gyrus	brain
16	chr22:20921400-20943200	Strong transcription	Fetal Stomach	stomach
17	chr22:20921800-20930600	Strong transcription	Brain Cingulate Gyrus	brain
18	chr22:20921800-20936800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr22:20923200-20942600	Strong transcription	Fetal Intestine Large	intestine
20	chr22:20923400-20930200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr22:20923400-20930800	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr22:20923600-20942400	Strong transcription	Dnd41	blood
23	chr22:20923800-20930400	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr22:20924000-20929800	Strong transcription	Brain Hippocampus Middle	brain
25	chr22:20924000-20930200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr22:20924000-20930600	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr22:20924000-20932600	Strong transcription	Gastric	stomach
28	chr22:20924000-20942000	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr22:20924000-20942400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr22:20924000-20942600	Strong transcription	Fetal Intestine Small	intestine
31	chr22:20924200-20932400	Strong transcription	Skeletal Muscle Male	skeletal muscle
32	chr22:20924200-20942400	Strong transcription	Thymus	Thymus
33	chr22:20924200-20942800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr22:20925000-20930200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr22:20925000-20930600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr22:20925000-20932800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr22:20925000-20932800	Strong transcription	Pancreas	Pancrea
38	chr22:20925000-20942200	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr22:20925200-20930400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr22:20925200-20930400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr22:20925200-20930600	Strong transcription	Duodenum Mucosa	Duodenum
42	chr22:20925200-20932200	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr22:20925200-20932600	Strong transcription	Right Ventricle	heart
44	chr22:20925200-20933800	Strong transcription	Colon Smooth Muscle	Colon
45	chr22:20925200-20935600	Strong transcription	HUVEC	blood vessel
46	chr22:20925200-20940200	Strong transcription	HepG2	liver
47	chr22:20925200-20942400	Strong transcription	Stomach Smooth Muscle	stomach
48	chr22:20925200-20942600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr22:20925400-20930600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr22:20925400-20931000	Strong transcription	Skeletal Muscle Female	skeletal muscle

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