Variant report

Variant	rs1044573
Chromosome Location	chr20:25206654-25206655
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:25200007..25207026-chr20:25227086..25230373,11	MCF-7	breast:
2	chr20:25176141..25177768-chr20:25206257..25208862,2	MCF-7	breast:
3	chr20:25173813..25179807-chr20:25203379..25207002,9	MCF-7	breast:
4	chr20:25204544..25206460-chr20:25206464..25208599,2	MCF-7	breast:
5	chr20:25202506..25206898-chr20:25226343..25231297,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100994	Chromatin interaction
ENSG00000197586	Chromatin interaction

Extended variants
information (count: 169 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:152)

rs_ID	r²[population]
rs1007707	0.81[CHD][hapmap];1.00[JPT][hapmap]
rs1007708	0.80[ASN][1000 genomes]
rs1046073	0.85[CEU][hapmap]
rs1077889	0.80[ASN][1000 genomes]
rs11087505	0.80[ASN][1000 genomes]
rs11100	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1118963	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1130694	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs11698185	0.86[JPT][hapmap]
rs11699953	0.90[EUR][1000 genomes]
rs13038092	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1473695	0.86[JPT][hapmap]
rs1555330	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1888997	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs1888999	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs2145126	0.80[ASN][1000 genomes]
rs2227890	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.80[ASN][1000 genomes]
rs2227892	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2257233	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.80[ASN][1000 genomes]
rs2257432	0.80[ASN][1000 genomes]
rs2257461	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.80[ASN][1000 genomes]
rs2257464	0.80[ASN][1000 genomes]
rs2257705	0.85[CEU][hapmap];0.85[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.80[ASN][1000 genomes]
rs2257712	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2257808	0.80[ASN][1000 genomes]
rs2257809	0.80[ASN][1000 genomes]
rs2257982	0.80[ASN][1000 genomes]
rs2257985	0.80[ASN][1000 genomes]
rs2257991	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.80[ASN][1000 genomes]
rs2258066	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.80[ASN][1000 genomes]
rs2258135	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.80[ASN][1000 genomes]
rs2258201	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2258617	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs2258719	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs2258728	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs2258769	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2259837	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs2260997	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.90[ASN][1000 genomes]
rs2261109	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2261115	0.80[ASN][1000 genomes]
rs2261698	0.80[ASN][1000 genomes]
rs2261720	0.80[ASN][1000 genomes]
rs2261747	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs2261753	0.80[ASN][1000 genomes]
rs2261784	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2261785	0.80[ASN][1000 genomes]
rs2261790	0.80[ASN][1000 genomes]
rs2261794	0.80[ASN][1000 genomes]
rs2268879	1.00[JPT][hapmap]
rs2273473	0.83[EUR][1000 genomes]
rs2297496	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs2297497	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs2387881	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs2424698	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2424699	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2424700	0.80[ASN][1000 genomes]
rs2424704	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs2474766	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2474769	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2474777	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.80[ASN][1000 genomes]
rs2482911	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs2482923	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs2482927	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2482931	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs2482943	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2500399	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2500405	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs2500406	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap]
rs2500424	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2500432	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs2500433	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs2500436	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2500446	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs3002702	0.80[ASN][1000 genomes]
rs33999482	0.80[ASN][1000 genomes]
rs3746337	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3761117	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs4619688	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4813562	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs4815411	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs4815412	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs4815417	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs6037062	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6037069	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6037095	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs6037097	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs6037103	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs6037105	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs6050425	1.00[JPT][hapmap]
rs6050427	0.81[CHD][hapmap];1.00[JPT][hapmap]
rs6050431	0.81[CHD][hapmap];0.86[JPT][hapmap]
rs6050439	0.80[ASN][1000 genomes]
rs6050442	0.80[ASN][1000 genomes]
rs6050445	0.80[ASN][1000 genomes]
rs6050463	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050464	0.94[EUR][1000 genomes]
rs6050472	0.84[ASN][1000 genomes]
rs6050477	0.81[CEU][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs6050481	0.88[CEU][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050482	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6050513	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6050515	0.85[JPT][hapmap]
rs6050532	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6050544	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs6050559	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs6050561	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs6050565	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs6050567	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs6050573	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs6050590	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6050598	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs6050599	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6076336	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs6083776	0.81[CHD][hapmap];0.86[JPT][hapmap]
rs6083804	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6083805	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs6083809	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6083818	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs6083828	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs6083853	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs6107015	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6107017	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6107019	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6107031	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6115093	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6115094	0.92[CEU][hapmap];0.82[CHB][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6115100	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6115101	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6115109	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6115140	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs6115159	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6132819	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6132820	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6132821	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6132822	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6132824	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6138537	0.86[JPT][hapmap]
rs6138545	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6138546	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6138550	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6138553	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6138555	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6138556	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7020	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs7267979	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs7453	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8115257	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8124539	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs8184820	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs910996	0.80[ASN][1000 genomes]
rs910997	0.80[ASN][1000 genomes]
rs9927	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062140	chr20:24807962-25304054	Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv544219	chr20:24807962-25304054	Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1055341	chr20:24848416-25302271	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1063494	chr20:25067286-25468557	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv1063016	chr20:25067286-25475629	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS 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 target site	53 gene(s)	inside rSNPs	diseases
6	nsv1065101	chr20:25068046-25466542	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS 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 target site	53 gene(s)	inside rSNPs	diseases
7	nsv544220	chr20:25068046-25466542	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv531480	chr20:25070067-25472684	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
9	nsv585746	chr20:25071454-25470056	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
10	nsv1062742	chr20:25071454-25475629	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
11	nsv949389	chr20:25071454-25506582	Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS 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	54 gene(s)	inside rSNPs	diseases
12	nsv531481	chr20:25080583-25448944	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
13	nsv949479	chr20:25096494-25467359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
14	nsv1061109	chr20:25101715-25472685	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
15	nsv544221	chr20:25101715-25472685	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
16	nsv1066667	chr20:25133066-25238976	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
17	nsv544222	chr20:25133066-25238976	Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Enhancers 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	20 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Allergic rhinitis	22036096	GWAS catalog

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs1044573	PYGB	cis	multi-tissue	Pritchard
rs1044573	C20orf22	cis	multi-tissue	Pritchard
rs1044573	HDHD4	cis	multi-tissue	Pritchard
rs1044573	ABHD12	Cis_1M	lymphoblastoid	RTeQTL
rs1044573	ABHD12	cis	Brain Pons	GTEx
rs1044573	GINS1	Cis_1M	lymphoblastoid	RTeQTL
rs1044573	ABHD12	cis	Frontal Cortex	GTEx
rs1044573	DCLRE1C	trans	multi-tissue	Pritchard
rs1044573	ABHD12	cis	multi-tissue	Pritchard
rs1044573	ABHD12	cis	Cerebellum	GTEx
rs1044573	ABHD12	cis	Temporal Cortex	GTEx
rs1044573	PYGB	cis	Whole Blood	GTEx

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25178600-25212200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr20:25180000-25207600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr20:25190200-25206800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr20:25190400-25207200	Strong transcription	Duodenum Mucosa	Duodenum
5	chr20:25190400-25207200	Strong transcription	Fetal Stomach	stomach
6	chr20:25190400-25207200	Strong transcription	Ovary	ovary
7	chr20:25190600-25207000	Strong transcription	Fetal Brain Female	brain
8	chr20:25190600-25207200	Strong transcription	Brain Germinal Matrix	brain
9	chr20:25190600-25208400	Strong transcription	Thymus	Thymus
10	chr20:25193400-25210800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr20:25196800-25210400	Weak transcription	GM12878-XiMat	blood
12	chr20:25197200-25208000	Weak transcription	Primary B cells from cord blood	blood
13	chr20:25197400-25207400	Weak transcription	Fetal Brain Male	brain
14	chr20:25197400-25207400	Weak transcription	NHDF-Ad	bronchial
15	chr20:25198000-25214000	Weak transcription	Fetal Lung	lung
16	chr20:25198400-25212200	Enhancers	Fetal Heart	heart
17	chr20:25198800-25207200	Genic enhancers	Right Ventricle	heart
18	chr20:25199000-25212600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr20:25199200-25207400	Weak transcription	Psoas Muscle	Psoas
20	chr20:25199200-25208600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr20:25199200-25210600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr20:25199200-25212000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr20:25199400-25210600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr20:25200200-25207400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr20:25201200-25207400	Strong transcription	Brain Inferior Temporal Lobe	brain
26	chr20:25201600-25208200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr20:25201800-25207000	Strong transcription	Lung	lung
28	chr20:25202000-25207200	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr20:25202200-25207400	Weak transcription	Colon Smooth Muscle	Colon
30	chr20:25202200-25209600	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr20:25202800-25207600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr20:25203200-25207600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr20:25203600-25207200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr20:25203800-25207000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr20:25204000-25207200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr20:25204000-25207600	Strong transcription	Spleen	Spleen
37	chr20:25204000-25208200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr20:25204200-25207600	Strong transcription	Brain Cingulate Gyrus	brain
39	chr20:25204200-25208400	Strong transcription	Primary T cells from cord blood	blood
40	chr20:25204200-25208600	Strong transcription	Fetal Intestine Large	intestine
41	chr20:25204200-25213800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr20:25204200-25222800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr20:25204400-25207200	Strong transcription	Adipose Nuclei	Adipose
44	chr20:25204400-25207200	Strong transcription	Placenta	Placenta
45	chr20:25204400-25207400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr20:25204400-25207400	Weak transcription	HSMMtube	muscle
47	chr20:25204400-25207600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr20:25204400-25207800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr20:25204400-25207800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr20:25204400-25207800	Strong transcription	Dnd41	blood

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