Variant report

Variant	rs12077916
Chromosome Location	chr1:46262551-46262552
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:46261648..46263854-chr1:46265371..46267138,2	K562	blood:
2	chr1:46258378..46261508-chr1:46262395..46264420,3	K562	blood:
3	chr1:46244095..46246858-chr1:46259918..46262871,2	K562	blood:
4	chr1:46262358..46264763-chr1:46264907..46267822,2	K562	blood:

Extended variants
information (count: 224 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:187)

rs_ID	r²[population]
rs10127690	0.82[EUR][1000 genomes]
rs10157795	0.86[AMR][1000 genomes]
rs10158032	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10437063	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10732844	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10749858	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10789474	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10789475	0.94[ASN][1000 genomes]
rs10789478	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10789479	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10789484	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10789485	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10789486	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10890347	0.82[AMR][1000 genomes]
rs10890348	0.81[AMR][1000 genomes]
rs10890350	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10890353	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10890355	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10890358	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10890359	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10890360	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10890365	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10890370	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10890371	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10890372	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10890373	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10890374	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10890376	0.85[EUR][1000 genomes]
rs10890377	0.85[EUR][1000 genomes]
rs10890378	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10890380	0.84[EUR][1000 genomes]
rs10890381	0.84[EUR][1000 genomes]
rs10890382	0.82[EUR][1000 genomes]
rs11211175	0.85[AMR][1000 genomes]
rs11211177	0.81[ASN][1000 genomes]
rs11211179	0.86[AMR][1000 genomes]
rs11211181	0.88[AMR][1000 genomes]
rs11211182	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11211190	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211194	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11211200	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11211202	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11211204	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11211205	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11211209	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11211215	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11211217	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11211218	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11211219	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11211222	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11211223	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11211228	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11211229	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11211232	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11211235	0.86[EUR][1000 genomes]
rs11211236	0.86[EUR][1000 genomes]
rs11211237	0.84[EUR][1000 genomes]
rs11211238	0.84[EUR][1000 genomes]
rs11211239	0.83[EUR][1000 genomes]
rs11211244	0.83[EUR][1000 genomes]
rs11211248	0.82[EUR][1000 genomes]
rs11488313	0.81[ASN][1000 genomes]
rs12022335	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12060274	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12067716	0.86[EUR][1000 genomes]
rs12076580	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12077546	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12077974	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12094860	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12094901	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12097761	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12097799	0.82[EUR][1000 genomes]
rs12124291	0.86[EUR][1000 genomes]
rs12124847	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12131529	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12133129	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12145287	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12402590	0.81[AMR][1000 genomes]
rs12403666	0.86[EUR][1000 genomes]
rs12565042	0.91[ASN][1000 genomes]
rs28376548	0.81[AMR][1000 genomes]
rs28636523	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28683093	0.80[AMR][1000 genomes]
rs28831083	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34444543	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34446427	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34694458	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35018217	0.84[EUR][1000 genomes]
rs35154628	0.82[ASN][1000 genomes]
rs3922886	0.82[EUR][1000 genomes]
rs3922887	0.82[EUR][1000 genomes]
rs4073847	0.82[EUR][1000 genomes]
rs4074225	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4134387	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4275489	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4297233	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4298677	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4390216	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4454479	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4459051	0.84[EUR][1000 genomes]
rs4460583	0.84[EUR][1000 genomes]
rs4489497	0.86[EUR][1000 genomes]
rs4508055	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4524994	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4539075	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4553121	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4606257	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4607936	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4630155	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4641257	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4660318	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4660328	0.86[EUR][1000 genomes]
rs4660331	0.83[EUR][1000 genomes]
rs4660332	0.83[EUR][1000 genomes]
rs4660334	0.83[EUR][1000 genomes]
rs4660335	0.82[EUR][1000 genomes]
rs4660336	0.80[EUR][1000 genomes]
rs4660889	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4660895	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4660896	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4660900	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4660903	0.83[EUR][1000 genomes]
rs4660904	0.83[EUR][1000 genomes]
rs4660905	0.83[EUR][1000 genomes]
rs4660906	0.82[EUR][1000 genomes]
rs4994390	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56255771	0.86[AMR][1000 genomes]
rs61785584	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61785613	0.86[EUR][1000 genomes]
rs61785614	0.84[EUR][1000 genomes]
rs6429580	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6429581	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6429588	0.83[EUR][1000 genomes]
rs6657720	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6661500	0.82[EUR][1000 genomes]
rs6666743	0.92[ASN][1000 genomes]
rs6666763	0.84[EUR][1000 genomes]
rs6671754	0.84[EUR][1000 genomes]
rs6672115	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6674794	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6675222	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6676982	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6677777	0.82[EUR][1000 genomes]
rs6678444	0.81[ASN][1000 genomes]
rs6680211	0.92[ASN][1000 genomes]
rs6681068	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6682683	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6683274	0.82[AMR][1000 genomes]
rs6687301	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6690386	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6690652	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6690775	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6693336	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6694340	0.94[ASN][1000 genomes]
rs6695421	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6697830	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6701694	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7512395	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7515491	0.86[ASN][1000 genomes]
rs7517560	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7519181	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7520123	0.88[AMR][1000 genomes]
rs7526369	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7526532	0.94[ASN][1000 genomes]
rs7527079	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7527244	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7527298	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7531911	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7532204	0.81[EUR][1000 genomes]
rs7534331	0.80[EUR][1000 genomes]
rs7539800	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7540578	0.82[AMR][1000 genomes]
rs7541962	0.81[ASN][1000 genomes]
rs7546237	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7547189	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7547284	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7551025	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7553924	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs785478	0.81[EUR][1000 genomes]
rs785480	0.81[EUR][1000 genomes]
rs946524	0.81[EUR][1000 genomes]
rs946525	0.81[EUR][1000 genomes]
rs9787208	0.92[ASN][1000 genomes]
rs9787412	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9793167	0.84[EUR][1000 genomes]
rs9803784	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9919275	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:37 , 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	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12077916	GPBP1L1	cis	Muscle Skeletal	GTEx
rs12077916	IPP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46260200-46263600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr1:46260200-46264000	Weak transcription	Psoas Muscle	Psoas
3	chr1:46260200-46267800	Weak transcription	Osteobl	bone
4	chr1:46262000-46264600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr1:46262200-46262600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:46262200-46262800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:46262200-46263000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:46262200-46268000	Weak transcription	HepG2	liver
9	chr1:46262400-46267800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:46262400-46267800	Weak transcription	HSMMtube	muscle
11	chr1:46262400-46268200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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