Variant report

Variant	rs60809012
Chromosome Location	chr12:105271531-105271532
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104775284..104776231-chr12:105270838..105271592,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10161522	0.85[EUR][1000 genomes]
rs10507186	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10507187	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10507188	0.91[AFR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11112276	0.85[EUR][1000 genomes]
rs11112277	0.85[EUR][1000 genomes]
rs11112279	0.85[EUR][1000 genomes]
rs11112283	0.80[EUR][1000 genomes]
rs12296144	0.83[EUR][1000 genomes]
rs12299936	0.85[EUR][1000 genomes]
rs12306191	0.85[EUR][1000 genomes]
rs12306443	0.85[EUR][1000 genomes]
rs12308952	0.85[EUR][1000 genomes]
rs12313077	0.85[EUR][1000 genomes]
rs12314995	0.85[EUR][1000 genomes]
rs12315975	0.85[EUR][1000 genomes]
rs12315983	0.85[EUR][1000 genomes]
rs12319632	0.85[EUR][1000 genomes]
rs12320024	0.85[EUR][1000 genomes]
rs12320195	0.85[EUR][1000 genomes]
rs12320880	0.85[EUR][1000 genomes]
rs12321224	0.85[EUR][1000 genomes]
rs12321226	0.85[EUR][1000 genomes]
rs12321381	0.85[EUR][1000 genomes]
rs17036439	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17036463	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17036494	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17036505	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17036509	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17036534	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17036542	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17036549	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17036558	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17041531	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35879768	0.85[EUR][1000 genomes]
rs3812795	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3935722	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4077312	0.91[AFR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4268581	0.85[EUR][1000 genomes]
rs4357778	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58005679	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58115870	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs58447363	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58483223	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60057011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60096703	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60310033	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60956548	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61638859	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7970504	0.94[EUR][1000 genomes];0.92[ASN][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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105238400-105280000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr12:105259400-105277800	Weak transcription	Pancreas	Pancrea
3	chr12:105260800-105280200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:105261400-105278000	Weak transcription	Gastric	stomach
5	chr12:105267800-105279600	Weak transcription	A549	lung
6	chr12:105267800-105284200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:105269800-105277000	Weak transcription	Liver	Liver
8	chr12:105269800-105277400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr12:105271200-105276800	Weak transcription	Fetal Brain Female	brain

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