Variant report

Variant	rs3766519
Chromosome Location	chr1:146686372-146686373
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:146685019..146687368-chr1:149223475..149225441,2	MCF-7	breast:
2	chr1:146642998..146645966-chr1:146684900..146690728,6	MCF-7	breast:
3	chr1:146683726..146686519-chr1:146694333..146696834,3	MCF-7	breast:
4	chr1:146642903..146647211-chr1:146683990..146688103,6	MCF-7	breast:
5	chr1:146686031..146688441-chr1:146704006..146705919,2	MCF-7	breast:
6	chr1:146685532..146688346-chr1:146712991..146715858,2	K562	blood:

Variant related genes	Relation type
ENSG00000206737	Chromatin interaction
ENSG00000273071	Chromatin interaction
ENSG00000271721	Chromatin interaction
ENSG00000131778	Chromatin interaction
ENSG00000237188	Chromatin interaction
ENSG00000131791	Chromatin interaction
ENSG00000131781	Chromatin interaction
ENSG00000236806	Chromatin interaction

Extended variants
information (count: 175 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:147)

rs_ID	r²[population]
rs10793657	0.86[JPT][hapmap]
rs10793658	0.86[JPT][hapmap]
rs10793661	0.81[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap]
rs10900332	0.81[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap]
rs10900333	0.81[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap]
rs11239954	0.95[CEU][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11239958	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11800580	0.95[CEU][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11811023	0.90[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12046626	0.86[JPT][hapmap]
rs12046706	0.96[EUR][1000 genomes]
rs12060046	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1596236	0.88[JPT][hapmap]
rs17159914	1.00[CEU][hapmap];0.89[GIH][hapmap];0.96[TSI][hapmap];0.96[EUR][1000 genomes]
rs17159924	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17160050	0.95[CEU][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17160051	0.95[CEU][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17160592	0.88[JPT][hapmap]
rs17355398	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs17355419	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17355474	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17355509	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17356184	0.95[CEU][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17356219	1.00[ASW][hapmap];0.95[CEU][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17356233	0.95[CEU][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17356240	0.95[CEU][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17356492	0.84[EUR][1000 genomes]
rs17359629	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17360443	1.00[ASW][hapmap];0.95[CEU][hapmap];0.83[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.84[EUR][1000 genomes]
rs1813002	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1822309	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1932977	0.95[CEU][hapmap];0.89[GIH][hapmap];0.81[MEX][hapmap];0.96[TSI][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1999820	0.95[CEU][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2008414	0.87[ASN][1000 genomes]
rs2014106	0.87[AMR][1000 genomes]
rs2083720	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2354428	1.00[ASW][hapmap];0.95[CEU][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.84[EUR][1000 genomes]
rs2477568	0.88[JPT][hapmap]
rs2477569	0.88[JPT][hapmap]
rs28381210	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2883323	0.95[CEU][hapmap];0.80[EUR][1000 genomes]
rs2883324	0.95[CEU][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes]
rs2883434	0.95[EUR][1000 genomes]
rs3737853	0.86[JPT][hapmap]
rs3737855	1.00[ASW][hapmap];0.85[CEU][hapmap];0.85[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.85[MKK][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3766520	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3766522	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3766523	1.00[YRI][hapmap]
rs4301678	0.95[CEU][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4373796	0.94[CEU][hapmap];0.82[JPT][hapmap];0.80[EUR][1000 genomes]
rs4453096	0.95[CEU][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes]
rs4568882	0.95[CEU][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes]
rs4593887	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs493000	0.88[JPT][hapmap]
rs4950302	0.88[JPT][hapmap]
rs4950304	0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4950305	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4950306	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4950308	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4950313	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4950315	1.00[ASW][hapmap];0.95[CEU][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4950316	0.95[CEU][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes]
rs4950318	1.00[CEU][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes]
rs4950319	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs4950354	0.88[JPT][hapmap]
rs4950355	0.88[JPT][hapmap]
rs4950356	0.88[JPT][hapmap]
rs4950359	0.88[JPT][hapmap]
rs4950371	0.88[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4950373	0.87[ASN][1000 genomes]
rs4950379	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4950382	1.00[CEU][hapmap];0.89[GIH][hapmap];0.96[TSI][hapmap];0.96[EUR][1000 genomes]
rs4950384	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4950389	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4950392	1.00[ASW][hapmap];0.95[CEU][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4950409	0.80[EUR][1000 genomes]
rs517201	0.88[JPT][hapmap]
rs535827	0.88[JPT][hapmap]
rs55697094	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55799799	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55963049	0.86[AMR][1000 genomes]
rs56080828	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56151278	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs56198825	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs56864370	0.81[ASN][1000 genomes]
rs584107	0.88[JPT][hapmap]
rs604716	0.88[JPT][hapmap]
rs61838936	0.86[AMR][1000 genomes]
rs61838944	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61838945	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61838947	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs61838951	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6537	0.81[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap]
rs6593732	0.88[JPT][hapmap]
rs6593756	0.86[JPT][hapmap]
rs6660507	0.84[EUR][1000 genomes]
rs6665597	0.81[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap]
rs6686480	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap]
rs6697022	0.86[JPT][hapmap]
rs6703892	1.00[ASW][hapmap];0.95[CEU][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.83[EUR][1000 genomes]
rs676288	0.88[JPT][hapmap]
rs718369	0.80[TSI][hapmap];0.84[EUR][1000 genomes]
rs719969	0.88[JPT][hapmap]
rs72691004	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72691012	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72691016	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72691025	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72691032	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72691033	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72691041	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72691054	0.84[EUR][1000 genomes]
rs72691090	0.82[EUR][1000 genomes]
rs72691093	0.83[EUR][1000 genomes]
rs72691095	0.84[EUR][1000 genomes]
rs72691097	0.82[EUR][1000 genomes]
rs72691098	0.82[EUR][1000 genomes]
rs72691102	0.82[EUR][1000 genomes]
rs72692904	0.82[EUR][1000 genomes]
rs72692905	0.82[EUR][1000 genomes]
rs72692907	0.82[EUR][1000 genomes]
rs72692914	0.82[EUR][1000 genomes]
rs72692917	0.82[EUR][1000 genomes]
rs72692942	0.80[EUR][1000 genomes]
rs72692963	0.80[EUR][1000 genomes]
rs72692965	0.80[EUR][1000 genomes]
rs72692968	0.80[EUR][1000 genomes]
rs72692971	0.80[EUR][1000 genomes]
rs72692973	0.80[EUR][1000 genomes]
rs72692975	0.80[EUR][1000 genomes]
rs72692979	0.80[EUR][1000 genomes]
rs72692980	0.80[EUR][1000 genomes]
rs72706428	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72706441	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72706444	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72708536	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7514808	0.80[AMR][1000 genomes]
rs7514970	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7515160	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7517324	0.81[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap]
rs7526996	0.86[JPT][hapmap]
rs7538682	0.82[EUR][1000 genomes]
rs7541393	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7554833	1.00[ASW][hapmap];0.95[CEU][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.84[EUR][1000 genomes]
rs942689	0.88[JPT][hapmap]
rs972368	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs976620	0.88[JPT][hapmap]
rs976621	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757753	chr1:145883119-146697542	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv872251	chr1:146152553-146803630	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS 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 target site	95 gene(s)	inside rSNPs	diseases
3	nsv872252	chr1:146471863-147398135	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
4	nsv999546	chr1:146507577-147356574	Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
5	nsv535123	chr1:146507577-147356574	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers 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	110 gene(s)	inside rSNPs	diseases
6	nsv492188	chr1:146507649-147381479	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription 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	110 gene(s)	inside rSNPs	diseases
7	nsv916754	chr1:146507711-147417736	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
8	nsv547673	chr1:146510112-147398135	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
9	nsv547674	chr1:146522722-147396797	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
10	nsv998341	chr1:146531446-147384720	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
11	nsv535124	chr1:146531446-147384720	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
12	nsv1003493	chr1:146531446-147389944	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
13	nsv998209	chr1:146543722-147384720	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
14	nsv535126	chr1:146543722-147384720	Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
15	nsv872255	chr1:146550780-146969712	Active TSS Enhancers Flanking Active TSS Weak transcription 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 target site	93 gene(s)	inside rSNPs	diseases
16	nsv872256	chr1:146556596-147410973	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
17	nsv1012331	chr1:146603479-147384720	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
18	nsv535131	chr1:146603479-147384720	Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS 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
19	nsv1009943	chr1:146618929-146893851	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
20	nsv535132	chr1:146618929-146893851	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
21	nsv872257	chr1:146643555-146724923	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers 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	23 gene(s)	inside rSNPs	diseases
22	nsv437047	chr1:146643555-146841602	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
23	nsv1005809	chr1:146647822-146886419	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
24	nsv535134	chr1:146647822-146886419	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
25	nsv1004849	chr1:146661516-147286826	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
26	nsv535135	chr1:146661516-147286826	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS 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	44 gene(s)	inside rSNPs	diseases
27	nsv872258	chr1:146662018-146709784	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
28	nsv547676	chr1:146686228-146996047	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats 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	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs3766519	PRKAB2	cis	cerebellum	SCAN
rs3766519	RP11-337C18.8	cis	Thyroid	GTEx
rs3766519	CHD1L	cis	cerebellum	SCAN
rs3766519	CHD1L	cis	Whole Blood	GTEx
rs3766519	CHD1L	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146649800-146695400	Weak transcription	Left Ventricle	heart
2	chr1:146658800-146695400	Weak transcription	Lung	lung
3	chr1:146659000-146695200	Weak transcription	Ovary	ovary
4	chr1:146671400-146694400	Weak transcription	Brain Substantia Nigra	brain
5	chr1:146672800-146696400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:146673600-146686800	Weak transcription	Fetal Lung	lung
7	chr1:146674200-146696600	Weak transcription	Brain Anterior Caudate	brain
8	chr1:146674400-146695400	Weak transcription	Right Ventricle	heart
9	chr1:146675000-146695000	Weak transcription	Fetal Stomach	stomach
10	chr1:146676800-146690000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:146676800-146694800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:146676800-146696400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:146678400-146696200	Weak transcription	Colonic Mucosa	Colon
14	chr1:146678600-146688000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr1:146679800-146696600	Weak transcription	Primary T cells from cord blood	blood
16	chr1:146680600-146696400	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:146681200-146686600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:146681200-146686800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:146681200-146696400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:146681600-146691800	Genic enhancers	Liver	Liver
21	chr1:146681800-146696400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:146682600-146688000	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr1:146682800-146695400	Weak transcription	Spleen	Spleen
24	chr1:146683800-146696400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:146684000-146695400	Weak transcription	Small Intestine	intestine
26	chr1:146684000-146696400	Weak transcription	Adipose Nuclei	Adipose
27	chr1:146684200-146686600	Weak transcription	Fetal Intestine Large	intestine
28	chr1:146684200-146686800	Weak transcription	Stomach Mucosa	stomach
29	chr1:146684400-146686400	Weak transcription	Fetal Kidney	kidney
30	chr1:146684600-146687000	Weak transcription	Fetal Intestine Small	intestine
31	chr1:146685000-146686600	Enhancers	Primary B cells from peripheral blood	blood
32	chr1:146685200-146696600	Weak transcription	Aorta	Aorta
33	chr1:146685400-146686400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr1:146685400-146686600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:146685400-146687600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:146685400-146695200	Weak transcription	Pancreas	Pancrea
37	chr1:146685600-146687200	Enhancers	Primary B cells from cord blood	blood
38	chr1:146685800-146687400	Enhancers	Primary hematopoietic stem cells	blood
39	chr1:146685800-146687600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:146685800-146689000	Enhancers	HepG2	liver
41	chr1:146686000-146687200	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr1:146686000-146688000	Enhancers	Duodenum Mucosa	Duodenum
43	chr1:146686000-146688400	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr1:146686000-146695200	Weak transcription	Gastric	stomach
45	chr1:146686200-146686600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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