Variant report

Variant	rs12073052
Chromosome Location	chr1:224846750-224846751
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	chr1:224844736..224846811-chr1:224848946..224850783,2	K562	blood:

Variant related genes	Relation type
ENSG00000234247	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1036431	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1039265	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10495227	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10915691	0.90[EUR][1000 genomes]
rs10915693	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10915695	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11805320	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12058085	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12060334	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12062831	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12065840	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12068125	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12072810	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12077707	0.81[AMR][1000 genomes]
rs12079156	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12088524	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12092532	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12562581	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12565092	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12567125	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1337538	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1369848	0.84[EUR][1000 genomes]
rs1465766	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1465767	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16850786	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4363402	0.92[EUR][1000 genomes]
rs61603030	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61827113	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61827152	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6426147	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6695864	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7541279	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7554310	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 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	chr1:224828800-224853400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:224832200-224884400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:224832800-224869000	Weak transcription	Dnd41	blood
4	chr1:224833200-224874400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:224838400-224853200	Weak transcription	Psoas Muscle	Psoas
6	chr1:224840800-224850800	Weak transcription	NHDF-Ad	bronchial
7	chr1:224840800-224856800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:224840800-224858000	Weak transcription	NH-A	brain
9	chr1:224841000-224856600	Weak transcription	Pancreas	Pancrea
10	chr1:224844600-224852800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:224845000-224848800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:224845800-224847600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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