Variant report

Variant	rs7520123
Chromosome Location	chr1:46235219-46235220
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:46214485..46216024-chr1:46233125..46235612,2	K562	blood:
2	chr1:46232525..46235856-chr1:46237252..46240769,3	K562	blood:
3	chr1:46233422..46236308-chr1:46241292..46243048,2	K562	blood:
4	chr1:46216677..46220436-chr1:46232703..46236378,4	K562	blood:
5	chr1:46132947..46134629-chr1:46234921..46237609,2	K562	blood:
6	chr1:46232525..46235856-chr1:46236169..46240769,5	K562	blood:
7	chr1:46214524..46222325-chr1:46232703..46237007,10	K562	blood:

Variant related genes	Relation type
ENSG00000197429	Chromatin interaction

Extended variants
information (count: 264 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:231)

rs_ID	r²[population]
rs10157795	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10430105	0.84[EUR][1000 genomes]
rs10430123	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10430124	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10437063	0.88[AMR][1000 genomes]
rs10749856	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10789467	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10789468	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10789470	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10789471	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10789474	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10890333	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10890334	0.81[EUR][1000 genomes]
rs10890335	0.81[EUR][1000 genomes]
rs10890336	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10890337	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10890340	0.84[EUR][1000 genomes]
rs10890341	0.85[EUR][1000 genomes]
rs10890342	0.87[EUR][1000 genomes]
rs10890343	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10890344	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10890345	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10890346	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10890347	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10890348	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10890350	0.89[AMR][1000 genomes]
rs10890353	0.81[AMR][1000 genomes]
rs11211145	0.82[EUR][1000 genomes]
rs11211146	0.82[EUR][1000 genomes]
rs11211147	0.82[EUR][1000 genomes]
rs11211149	0.82[EUR][1000 genomes]
rs11211151	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11211152	0.82[EUR][1000 genomes]
rs11211157	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11211158	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11211159	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11211161	0.85[EUR][1000 genomes]
rs11211162	0.85[EUR][1000 genomes]
rs11211163	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11211165	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11211166	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11211168	0.89[EUR][1000 genomes]
rs11211169	0.90[EUR][1000 genomes]
rs11211170	0.90[EUR][1000 genomes]
rs11211171	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11211173	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11211174	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11211175	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11211176	0.96[ASN][1000 genomes]
rs11211177	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11211178	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211179	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11211182	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11211190	0.87[AMR][1000 genomes]
rs11211194	0.85[AMR][1000 genomes]
rs11211200	0.84[AMR][1000 genomes]
rs11211202	0.84[AMR][1000 genomes]
rs1135812	0.82[EUR][1000 genomes]
rs11488313	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12022141	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12022673	0.82[EUR][1000 genomes]
rs12023439	0.82[EUR][1000 genomes]
rs12024590	0.84[EUR][1000 genomes]
rs12025613	0.82[EUR][1000 genomes]
rs12025621	0.96[ASN][1000 genomes]
rs12027622	0.84[EUR][1000 genomes]
rs12031182	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12037803	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12041197	0.82[EUR][1000 genomes]
rs12041677	0.84[EUR][1000 genomes]
rs12043945	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12045096	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12047629	0.87[EUR][1000 genomes]
rs12048866	0.82[EUR][1000 genomes]
rs12049027	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12060274	0.84[AMR][1000 genomes]
rs12062535	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12069121	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12070775	0.84[EUR][1000 genomes]
rs12076580	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12077916	0.88[AMR][1000 genomes]
rs12081175	0.82[EUR][1000 genomes]
rs12091503	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12094860	0.84[AMR][1000 genomes]
rs12094901	0.82[AMR][1000 genomes]
rs12402590	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12404197	0.93[ASN][1000 genomes]
rs1250	0.85[ASN][1000 genomes]
rs12564201	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1541131	0.84[ASN][1000 genomes]
rs1547924	0.81[ASN][1000 genomes]
rs2050376	0.81[ASN][1000 genomes]
rs2230658	0.81[ASN][1000 genomes]
rs2230659	0.81[ASN][1000 genomes]
rs2275085	0.84[ASN][1000 genomes]
rs28361459	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28370457	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28375469	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28376548	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28378621	0.96[ASN][1000 genomes]
rs28396194	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28406914	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28432365	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28438704	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28441217	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28442079	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28456069	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28474773	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28490344	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28495425	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28498557	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28501477	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28507722	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28508523	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28513660	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28528139	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28545085	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28550303	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28564319	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28568986	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28594599	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28597977	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28607263	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28617418	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28623463	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28635845	0.90[ASN][1000 genomes]
rs28641748	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28647556	0.96[ASN][1000 genomes]
rs28683093	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28719889	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28752166	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28789495	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28812624	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28817701	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28844317	0.96[ASN][1000 genomes]
rs28862324	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28890893	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2991985	0.81[ASN][1000 genomes]
rs2991986	0.84[ASN][1000 genomes]
rs2991987	0.84[ASN][1000 genomes]
rs3013594	0.82[ASN][1000 genomes]
rs3013595	0.88[ASN][1000 genomes]
rs3013596	0.88[ASN][1000 genomes]
rs3013597	0.88[ASN][1000 genomes]
rs3014236	0.85[ASN][1000 genomes]
rs3014238	0.82[ASN][1000 genomes]
rs3014239	0.84[ASN][1000 genomes]
rs3014243	0.91[ASN][1000 genomes]
rs3014247	0.85[ASN][1000 genomes]
rs3014251	0.81[ASN][1000 genomes]
rs34895634	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3811435	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3811436	0.85[EUR][1000 genomes]
rs3935296	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4274104	0.96[ASN][1000 genomes]
rs4275489	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4330955	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4390216	0.88[AMR][1000 genomes]
rs4415615	0.84[EUR][1000 genomes]
rs4423054	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4431884	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4439382	0.85[EUR][1000 genomes]
rs4468203	0.87[ASN][1000 genomes]
rs4508055	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4559551	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4564187	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4586014	0.86[EUR][1000 genomes]
rs4607935	0.82[EUR][1000 genomes]
rs4607936	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4609469	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4630155	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4660312	0.87[ASN][1000 genomes]
rs4660313	0.82[EUR][1000 genomes]
rs4660314	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4660879	0.82[ASN][1000 genomes]
rs4660880	0.82[EUR][1000 genomes]
rs4660882	0.87[ASN][1000 genomes]
rs4660883	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4660889	0.81[AMR][1000 genomes]
rs5021934	0.87[ASN][1000 genomes]
rs56177313	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56255771	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59916372	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61062981	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61784793	0.85[EUR][1000 genomes]
rs61784795	0.86[EUR][1000 genomes]
rs61784796	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61784799	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61784800	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61784801	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61784803	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61784821	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61784824	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61784833	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6429574	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6429575	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6429576	0.95[ASN][1000 genomes]
rs6429580	0.87[AMR][1000 genomes]
rs6656279	0.88[ASN][1000 genomes]
rs6658700	0.88[EUR][1000 genomes]
rs6665808	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66682726	0.84[EUR][1000 genomes]
rs6671802	0.88[ASN][1000 genomes]
rs6672115	0.82[AMR][1000 genomes]
rs6676982	0.88[AMR][1000 genomes]
rs6678444	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6683274	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6686944	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6690386	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6690775	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6690926	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6694889	0.82[EUR][1000 genomes]
rs6697821	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6697830	0.84[AMR][1000 genomes]
rs6699418	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6699444	0.84[EUR][1000 genomes]
rs6701694	0.86[AMR][1000 genomes]
rs6703748	0.82[EUR][1000 genomes]
rs6703960	0.96[ASN][1000 genomes]
rs72688483	0.88[ASN][1000 genomes]
rs7519900	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7529699	0.84[EUR][1000 genomes]
rs7539800	0.82[AMR][1000 genomes]
rs7540578	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7541962	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7546237	0.86[AMR][1000 genomes]
rs7551025	0.89[AMR][1000 genomes]
rs8179296	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8179402	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9793568	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
2	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
3	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
4	nsv871928	chr1:46024701-46609736	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
5	nsv1011587	chr1:46051672-46244492	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
6	nsv1014128	chr1:46097670-46394540	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers 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 miRNA target site	77 gene(s)	inside rSNPs	diseases
7	nsv1010054	chr1:46144479-46320493	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
8	nsv1006861	chr1:46144479-46417621	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
9	nsv1003049	chr1:46144479-46476149	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
10	nsv870511	chr1:46148138-46245423	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
11	nsv871233	chr1:46153203-46311275	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
12	nsv1008219	chr1:46160098-46493958	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
13	nsv534943	chr1:46160098-46493958	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
14	nsv1000498	chr1:46171836-46438252	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
15	nsv870791	chr1:46182916-46398415	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
16	nsv871023	chr1:46184300-46301182	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
17	nsv998925	chr1:46184925-46353041	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
18	nsv1003986	chr1:46184925-46417621	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
19	nsv1007501	chr1:46184925-46439533	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
20	nsv534944	chr1:46184925-46439533	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
21	nsv871763	chr1:46186576-46236098	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
22	nsv1006891	chr1:46189258-46408032	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
23	nsv1009355	chr1:46189258-46463012	Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
24	nsv870626	chr1:46196813-46314170	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
25	nsv871312	chr1:46196813-46353332	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
26	esv2830426	chr1:46202361-46347367	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
27	nsv546158	chr1:46216575-46495434	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
28	nsv870911	chr1:46216575-46498375	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
29	nsv1013628	chr1:46221617-46356565	Enhancers Flanking Active TSS Strong transcription Weak transcription 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	12 gene(s)	inside rSNPs	diseases
30	nsv431268	chr1:46223080-46495480	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
31	nsv546159	chr1:46223086-46398415	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
32	nsv461417	chr1:46223086-46416348	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
33	nsv546160	chr1:46223086-46416348	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7520123	IPP	Cis_1M	lymphoblastoid	RTeQTL
rs7520123	GPBP1L1	cis	Muscle Skeletal	GTEx
rs7520123	IPP	cis	multi-tissue	Pritchard

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46232000-46236200	Weak transcription	HepG2	liver
2	chr1:46234000-46235400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:46234200-46236800	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr1:46234400-46235400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:46234400-46235400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:46234400-46235400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:46234600-46235400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr1:46234600-46235400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:46234600-46235600	Enhancers	HMEC	breast
10	chr1:46234800-46235400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:46234800-46235400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:46234800-46235400	Enhancers	Osteobl	bone
13	chr1:46234800-46235600	Enhancers	NHEK	skin
14	chr1:46235000-46235400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr1:46235000-46235400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:46235000-46235400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:46235000-46235400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:46235000-46235600	Flanking Active TSS	K562	blood
19	chr1:46235000-46235800	Enhancers	Fetal Thymus	thymus
20	chr1:46235200-46236200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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