Variant report

Variant	rs3766522
Chromosome Location	chr1:146641686-146641687
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr1:146641356-146641688	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr1:146641651-146642047	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr1:146641440-146642109	MCF10A-Er-Src	breast:	n/a	chr1:146641982-146641990 chr1:146641983-146641990 chr1:146641981-146641991 chr1:146641982-146641990
4	MAFK	chr1:146641456-146642170	HepG2	liver:	n/a	chr1:146641726-146641737 chr1:146641981-146641996 chr1:146641663-146641674 chr1:146641976-146641996 chr1:146641983-146641992 chr1:146641980-146641990 chr1:146641663-146641674
5	MAFK	chr1:146641594-146642121	IMR90	lung:	n/a	chr1:146641726-146641737 chr1:146641981-146641996 chr1:146641663-146641674 chr1:146641976-146641996 chr1:146641983-146641992 chr1:146641980-146641990 chr1:146641663-146641674
6	MYC	chr1:146641455-146644653	MCF10A-Er-Src	breast:	n/a	chr1:146641486-146641496 chr1:146641981-146641990
7	MYC	chr1:146641400-146641824	MCF10A-Er-Src	breast:	n/a	chr1:146641486-146641496
8	MAFK	chr1:146641474-146642145	K562	blood:	n/a	chr1:146641726-146641737 chr1:146641981-146641996 chr1:146641663-146641674 chr1:146641976-146641996 chr1:146641983-146641992 chr1:146641980-146641990 chr1:146641663-146641674
9	FOS	chr1:146641606-146642095	MCF10A-Er-Src	breast:	n/a	chr1:146641982-146641990 chr1:146641983-146641990 chr1:146641981-146641991 chr1:146641982-146641990
10	FOS	chr1:146641532-146642175	MCF10A-Er-Src	breast:	n/a	chr1:146641982-146641990 chr1:146641983-146641990 chr1:146641981-146641991 chr1:146641982-146641990
11	MAFK	chr1:146641491-146642151	HepG2	liver:	n/a	chr1:146641726-146641737 chr1:146641981-146641996 chr1:146641663-146641674 chr1:146641976-146641996 chr1:146641983-146641992 chr1:146641980-146641990 chr1:146641663-146641674
12	POLR2A	chr1:146641592-146641999	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:146625986..146627688-chr1:146639409..146641762,2	K562	blood:
2	chr1:146638044..146647556-chr1:146707628..146717159,48	MCF-7	breast:
3	chr1:146632461..146635093-chr1:146640314..146642017,2	K562	blood:
4	chr1:146638562..146647588-chr1:146711453..146720391,22	K562	blood:
5	chr1:146554115..146557849-chr1:146637949..146646936,17	MCF-7	breast:
6	chr1:146554089..146558005-chr1:146638440..146645674,16	K562	blood:
7	chr1:146580735..146583076-chr1:146639979..146642635,2	MCF-7	breast:
8	chr1:146628338..146632381-chr1:146638568..146643066,4	K562	blood:
9	chr1:146554089..146558005-chr1:146640920..146646223,16	K562	blood:
10	chr1:146637222..146651713-chr1:146712141..146718911,44	MCF-7	breast:
11	chr1:146640645..146647502-chr1:146711418..146719354,29	K562	blood:

Variant related genes	Relation type
ENSG00000273071	TF binding region
ENSG00000237188	TF binding region
ENSG00000230832	Chromatin interaction
ENSG00000131781	Chromatin interaction
ENSG00000131778	Chromatin interaction
ENSG00000131791	Chromatin interaction

Extended variants
information (count: 148 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:128)

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	0.90[CEU][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap];0.80[MKK][hapmap]
rs11800580	0.89[CEU][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes]
rs11809339	0.84[ASN][1000 genomes]
rs11811023	0.84[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12046626	0.86[JPT][hapmap]
rs12046706	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12725189	0.84[ASN][1000 genomes]
rs1596236	0.88[JPT][hapmap]
rs17159914	0.95[CEU][hapmap];0.89[GIH][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17159924	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17160050	0.90[CEU][hapmap];0.86[JPT][hapmap]
rs17160051	0.89[CEU][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes]
rs17160592	0.88[JPT][hapmap]
rs17355398	0.84[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17355419	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17355474	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17355509	0.95[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];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17356184	0.89[CEU][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes]
rs17356219	0.89[CEU][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap]
rs17356233	0.89[CEU][hapmap];0.86[JPT][hapmap]
rs17356240	0.89[CEU][hapmap];0.86[JPT][hapmap]
rs17359629	0.95[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];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17360443	0.89[CEU][hapmap];0.83[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap]
rs1813002	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1822309	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1932977	0.89[CEU][hapmap];0.89[GIH][hapmap];0.81[MEX][hapmap];0.96[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1999820	0.89[CEU][hapmap];0.86[JPT][hapmap]
rs2008414	0.91[ASN][1000 genomes]
rs2014106	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2083720	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2354428	0.89[CEU][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap]
rs2477568	0.88[JPT][hapmap]
rs2477569	0.88[JPT][hapmap]
rs28381210	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2883323	0.89[CEU][hapmap]
rs2883324	0.89[CEU][hapmap];0.86[JPT][hapmap]
rs2883434	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3737853	0.86[JPT][hapmap]
rs3737855	0.85[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap]
rs3766519	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]
rs3766520	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]
rs4301678	0.89[CEU][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes]
rs4373796	0.94[CEU][hapmap];0.82[JPT][hapmap]
rs4453096	0.89[CEU][hapmap];0.86[JPT][hapmap]
rs4568882	0.89[CEU][hapmap];0.86[JPT][hapmap]
rs4593887	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs493000	0.88[JPT][hapmap]
rs4950302	0.88[JPT][hapmap]
rs4950304	0.84[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4950305	0.80[CEU][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4950306	0.84[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4950308	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4950313	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4950315	0.89[CEU][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes]
rs4950316	0.89[CEU][hapmap];0.86[JPT][hapmap]
rs4950318	0.94[CEU][hapmap];0.86[JPT][hapmap]
rs4950319	0.85[CEU][hapmap]
rs4950354	0.88[JPT][hapmap]
rs4950355	0.88[JPT][hapmap]
rs4950356	0.88[JPT][hapmap]
rs4950359	0.88[JPT][hapmap]
rs4950367	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4950371	0.94[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4950373	0.91[ASN][1000 genomes]
rs4950379	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4950382	0.95[CEU][hapmap];0.89[GIH][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4950384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4950389	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4950392	0.89[CEU][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes]
rs517201	0.88[JPT][hapmap]
rs535827	0.88[JPT][hapmap]
rs55697094	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55791847	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs55799799	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55828524	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs55963049	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs56012243	0.84[ASN][1000 genomes]
rs56080828	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56151278	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56198825	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56864370	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs584107	0.88[JPT][hapmap]
rs604716	0.88[JPT][hapmap]
rs61838936	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61838937	0.84[ASN][1000 genomes]
rs61838938	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61838944	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61838945	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61838947	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61838951	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[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	0.91[EUR][1000 genomes]
rs6665597	0.81[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap]
rs6686480	0.95[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	0.89[CEU][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap]
rs676288	0.88[JPT][hapmap]
rs718369	0.80[TSI][hapmap];0.82[EUR][1000 genomes]
rs719969	0.88[JPT][hapmap]
rs72691004	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72691012	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72691016	0.84[AMR][1000 genomes]
rs72691032	0.85[AMR][1000 genomes]
rs72691033	0.85[AMR][1000 genomes]
rs72706428	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72706441	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72706444	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72708536	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7514808	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7514970	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7515160	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7517324	0.81[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap]
rs7523975	0.84[ASN][1000 genomes]
rs7526996	0.86[JPT][hapmap]
rs7538682	0.89[EUR][1000 genomes]
rs7541393	0.95[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];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7554833	0.89[CEU][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap]
rs942689	0.88[JPT][hapmap]
rs972368	0.95[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];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs976620	0.88[JPT][hapmap]
rs976621	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:20 , 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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs3766522	PRKAB2	cis	cerebellum	SCAN
rs3766522	RP11-337C18.8	cis	Thyroid	GTEx
rs3766522	CHD1L	cis	Whole Blood	GTEx
rs3766522	CHD1L	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146624800-146642600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:146631600-146642800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:146632000-146642400	Weak transcription	Colonic Mucosa	Colon
4	chr1:146632000-146642600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:146632200-146642400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:146632200-146642800	Weak transcription	Gastric	stomach
7	chr1:146632200-146643200	Weak transcription	Spleen	Spleen
8	chr1:146632400-146642000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr1:146632400-146642000	Weak transcription	Fetal Brain Male	brain
10	chr1:146632400-146642200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:146632600-146643000	Weak transcription	Lung	lung
12	chr1:146632800-146642400	Weak transcription	Fetal Kidney	kidney
13	chr1:146633200-146641800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:146633400-146642400	Weak transcription	Thymus	Thymus
15	chr1:146633400-146642600	Weak transcription	Aorta	Aorta
16	chr1:146633600-146642200	Weak transcription	Left Ventricle	heart
17	chr1:146633600-146642400	Weak transcription	Psoas Muscle	Psoas
18	chr1:146633800-146642600	Weak transcription	Brain Substantia Nigra	brain
19	chr1:146634400-146642600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:146634400-146642600	Weak transcription	Fetal Thymus	thymus
21	chr1:146634600-146642000	Weak transcription	Right Ventricle	heart
22	chr1:146635400-146642400	Weak transcription	Brain Angular Gyrus	brain
23	chr1:146638000-146642400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr1:146638400-146642400	Enhancers	Hela-S3	cervix
25	chr1:146638600-146642000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:146638600-146642200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:146638600-146642200	Weak transcription	Adipose Nuclei	Adipose
28	chr1:146638600-146642200	Weak transcription	Fetal Muscle Leg	muscle
29	chr1:146638600-146642200	Weak transcription	Pancreas	Pancrea
30	chr1:146638600-146642400	Enhancers	Fetal Intestine Large	intestine
31	chr1:146638600-146642800	Weak transcription	Esophagus	oesophagus
32	chr1:146638800-146641800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr1:146638800-146642200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:146638800-146642600	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr1:146639000-146641800	Enhancers	NHDF-Ad	bronchial
36	chr1:146639000-146642200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr1:146639000-146642600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr1:146639000-146642600	Enhancers	HSMM	muscle
39	chr1:146639200-146642200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:146639200-146642400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:146639400-146641800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:146639400-146641800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:146639400-146642000	Enhancers	Colon Smooth Muscle	Colon
44	chr1:146639400-146642000	Weak transcription	Ovary	ovary
45	chr1:146639400-146642000	Enhancers	A549	lung
46	chr1:146639400-146642400	Weak transcription	Primary B cells from cord blood	blood
47	chr1:146639400-146642400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr1:146639600-146641800	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr1:146639600-146641800	Weak transcription	HUVEC	blood vessel
50	chr1:146639600-146642000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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