Variant report

Variant	rs4606257
Chromosome Location	chr1:46307268-46307269
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:46298641..46301041-chr1:46305694..46307488,2	K562	blood:
2	chr1:46306882..46308441-chr1:46320292..46322525,2	K562	blood:
3	chr1:46304604..46309535-chr1:46310454..46313581,5	K562	blood:

Variant related genes	Relation type
ENSG00000232467	Chromatin interaction

Extended variants
information (count: 217 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:178)

rs_ID	r²[population]
rs10127690	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10158032	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10437063	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10732844	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10749858	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10789474	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10789475	0.97[ASN][1000 genomes]
rs10789478	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10789479	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10789484	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10789485	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10789486	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10890347	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10890348	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10890350	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10890353	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10890355	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10890358	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10890359	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10890360	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10890365	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10890370	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10890371	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10890372	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10890373	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10890374	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10890376	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10890377	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10890378	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10890380	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10890381	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10890382	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11211182	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11211190	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11211194	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11211200	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211202	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211204	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11211205	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11211209	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11211215	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11211217	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11211218	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11211219	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11211222	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11211223	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11211228	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11211229	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11211232	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11211235	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11211236	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11211237	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11211238	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11211239	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11211244	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11211248	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12022335	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12060274	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12067716	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12076580	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12077546	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12077916	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12077974	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12094860	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12094901	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12097761	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12097799	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12124291	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12124847	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12131529	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12133129	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12145287	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12402590	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12403666	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12565042	0.93[ASN][1000 genomes]
rs2669156	0.80[EUR][1000 genomes]
rs28636523	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28831083	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34444543	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34446427	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34694458	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35018217	0.89[EUR][1000 genomes]
rs35154628	0.85[ASN][1000 genomes]
rs3922886	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3922887	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4073847	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4074225	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4134387	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4275489	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4297233	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4298677	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4390216	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4454479	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4459051	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4460583	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4489497	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4508055	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4524994	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4539075	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4553121	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4607936	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4630155	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4641257	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4660318	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4660328	0.90[EUR][1000 genomes]
rs4660331	0.87[EUR][1000 genomes]
rs4660332	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4660334	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4660335	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4660336	0.84[EUR][1000 genomes]
rs4660889	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4660895	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4660896	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4660900	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4660903	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4660904	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4660905	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4660906	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4994390	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61785584	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61785613	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61785614	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6429580	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6429581	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6429588	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6657720	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6661500	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6666743	0.95[ASN][1000 genomes]
rs6666763	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6671754	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6672115	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6674794	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6675222	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6676982	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6677777	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6680211	0.95[ASN][1000 genomes]
rs6681068	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6682683	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6683274	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6687301	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6690386	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6690652	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6690775	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6693336	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6694340	0.97[ASN][1000 genomes]
rs6695421	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6697830	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6701694	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7512395	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7515491	0.89[ASN][1000 genomes]
rs7517560	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7519181	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7526369	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7526532	0.97[ASN][1000 genomes]
rs7527079	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7527244	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7527298	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7531911	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7532204	0.85[EUR][1000 genomes]
rs7534331	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7539800	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7540578	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7546237	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7547189	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7547284	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7551025	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7553924	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs785477	0.81[EUR][1000 genomes]
rs785478	0.85[EUR][1000 genomes]
rs785480	0.85[EUR][1000 genomes]
rs946524	0.85[EUR][1000 genomes]
rs946525	0.85[EUR][1000 genomes]
rs946527	0.82[EUR][1000 genomes]
rs9787208	0.95[ASN][1000 genomes]
rs9787412	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9793167	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9803784	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9919275	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:39 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	nsv524147	chr1:46236098-46438076	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
31	nsv1007162	chr1:46244432-46417621	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers 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	14 gene(s)	inside rSNPs	diseases
32	nsv1015136	chr1:46244432-46439533	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer 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	14 gene(s)	inside rSNPs	diseases
33	nsv1003517	chr1:46244432-46609881	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
34	nsv1007759	chr1:46248667-46493959	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking 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	16 gene(s)	inside rSNPs	diseases
35	nsv534945	chr1:46248667-46493959	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
36	nsv916232	chr1:46248686-46493918	Genic enhancers Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
37	nsv437479	chr1:46272879-46411146	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
38	nsv1013729	chr1:46286329-46363880	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
39	nsv1009527	chr1:46286329-46520127	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4606257	IPP	Cis_1M	lymphoblastoid	RTeQTL
rs4606257	GPBP1L1	cis	Muscle Skeletal	GTEx

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46270200-46317000	Weak transcription	Gastric	stomach
2	chr1:46270400-46309600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:46270400-46313400	Weak transcription	Small Intestine	intestine
4	chr1:46270600-46314000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:46270800-46307800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:46271400-46309400	Weak transcription	Fetal Kidney	kidney
7	chr1:46274600-46309200	Weak transcription	Hela-S3	cervix
8	chr1:46281800-46309200	Weak transcription	NHLF	lung
9	chr1:46287400-46315600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr1:46288800-46315600	Weak transcription	Primary T cells from cord blood	blood
11	chr1:46291800-46309200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:46291800-46309400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:46292200-46315000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:46293600-46314000	Weak transcription	HSMMtube	muscle
15	chr1:46295400-46309000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:46295400-46312600	Weak transcription	HSMM	muscle
17	chr1:46295800-46314200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:46296200-46312400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:46296800-46314000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:46296800-46315200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:46297000-46314000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:46297200-46308600	Weak transcription	Liver	Liver
23	chr1:46297400-46311800	Weak transcription	HMEC	breast
24	chr1:46298000-46316000	Weak transcription	Dnd41	blood
25	chr1:46298200-46314800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:46298400-46308400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr1:46298400-46309000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:46298400-46312600	Weak transcription	HUVEC	blood vessel
29	chr1:46298400-46312800	Weak transcription	Fetal Intestine Large	intestine
30	chr1:46298400-46315200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:46298600-46309200	Weak transcription	Fetal Brain Female	brain
32	chr1:46299000-46313800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:46299600-46309000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:46301000-46313800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:46301000-46315600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:46301400-46309000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:46301400-46309200	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr1:46304800-46310400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:46305200-46312800	Weak transcription	Fetal Intestine Small	intestine
40	chr1:46305200-46313200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:46305600-46309200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:46306400-46307400	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr1:46306600-46307400	Enhancers	Left Ventricle	heart
44	chr1:46306600-46308400	Weak transcription	Osteobl	bone
45	chr1:46306600-46309000	Weak transcription	A549	lung
46	chr1:46306600-46309800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:46306800-46308400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:46306800-46309000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:46306800-46309000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr1:46306800-46309000	Weak transcription	Fetal Heart	heart

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