Variant report

Variant	rs58483223
Chromosome Location	chr12:105313769-105313770
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105312658..105314967-chr12:105446704..105448489,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10161522	0.91[EUR][1000 genomes]
rs10507186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10507187	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10507188	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112276	0.91[EUR][1000 genomes]
rs11112277	0.91[EUR][1000 genomes]
rs11112279	0.91[EUR][1000 genomes]
rs11112283	0.86[EUR][1000 genomes]
rs11112303	0.83[EUR][1000 genomes]
rs11112307	0.85[EUR][1000 genomes]
rs11503466	0.85[EUR][1000 genomes]
rs12296144	0.88[EUR][1000 genomes]
rs12299385	0.85[EUR][1000 genomes]
rs12299936	0.91[EUR][1000 genomes]
rs12300005	0.85[EUR][1000 genomes]
rs12301432	0.85[EUR][1000 genomes]
rs12306191	0.91[EUR][1000 genomes]
rs12306443	0.91[EUR][1000 genomes]
rs12308952	0.91[EUR][1000 genomes]
rs12310790	0.85[EUR][1000 genomes]
rs12313077	0.91[EUR][1000 genomes]
rs12314995	0.91[EUR][1000 genomes]
rs12315975	0.91[EUR][1000 genomes]
rs12315983	0.91[EUR][1000 genomes]
rs12316001	0.85[EUR][1000 genomes]
rs12319632	0.91[EUR][1000 genomes]
rs12320024	0.91[EUR][1000 genomes]
rs12320195	0.91[EUR][1000 genomes]
rs12320880	0.91[EUR][1000 genomes]
rs12321224	0.91[EUR][1000 genomes]
rs12321226	0.91[EUR][1000 genomes]
rs12321381	0.91[EUR][1000 genomes]
rs17036439	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17036463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17036494	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17036505	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17036509	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17036534	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17036542	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17036549	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17036558	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17041531	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35879768	0.91[EUR][1000 genomes]
rs3812795	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3935722	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4077312	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4268581	0.91[EUR][1000 genomes]
rs4357778	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4553438	0.81[EUR][1000 genomes]
rs58005679	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58115870	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58447363	0.96[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60057011	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60096703	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60310033	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60809012	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60956548	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61638859	0.96[AFR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7131977	0.83[EUR][1000 genomes]
rs7303898	0.81[EUR][1000 genomes]
rs73383412	0.81[EUR][1000 genomes]
rs73387265	0.83[EUR][1000 genomes]
rs7960890	0.81[EUR][1000 genomes]
rs7960937	0.81[EUR][1000 genomes]
rs7970504	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975754	0.81[EUR][1000 genomes]
rs7975836	0.81[EUR][1000 genomes]
rs9738733	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105278600-105313800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr12:105290800-105331600	Weak transcription	Gastric	stomach
3	chr12:105293600-105321600	Weak transcription	A549	lung
4	chr12:105297400-105323600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:105297600-105323400	Weak transcription	Aorta	Aorta
6	chr12:105298200-105314600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr12:105300400-105323200	Weak transcription	Pancreas	Pancrea
8	chr12:105304400-105324600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:105304600-105315000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:105304800-105313800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:105304800-105314800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:105308800-105314800	Weak transcription	Liver	Liver

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