Variant report

Variant	rs12306362
Chromosome Location	chr12:60483047-60483048
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr12:60483003-60483119	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:60481263..60483527-chr12:60485827..60488653,2	K562	blood:

Variant related genes	Relation type
ENSG00000257294	TF binding region
ENSG00000257294	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10506409	0.90[EUR][1000 genomes]
rs10747867	0.90[EUR][1000 genomes]
rs10747868	0.90[EUR][1000 genomes]
rs10784030	1.00[EUR][1000 genomes]
rs10784035	0.90[EUR][1000 genomes]
rs10784036	0.90[EUR][1000 genomes]
rs10784037	0.90[EUR][1000 genomes]
rs10784038	0.90[EUR][1000 genomes]
rs10784039	0.90[EUR][1000 genomes]
rs10784041	0.90[EUR][1000 genomes]
rs10877404	0.90[EUR][1000 genomes]
rs10877405	0.90[EUR][1000 genomes]
rs10877407	0.90[EUR][1000 genomes]
rs10877408	0.90[EUR][1000 genomes]
rs11173377	0.90[EUR][1000 genomes]
rs11173382	0.90[EUR][1000 genomes]
rs12311074	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12318574	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1389250	0.90[EUR][1000 genomes]
rs1389257	0.90[EUR][1000 genomes]
rs1493310	0.90[EUR][1000 genomes]
rs1493317	0.90[EUR][1000 genomes]
rs1493319	0.90[EUR][1000 genomes]
rs1493321	0.90[EUR][1000 genomes]
rs1493322	0.90[EUR][1000 genomes]
rs1493324	0.90[EUR][1000 genomes]
rs1546345	0.90[EUR][1000 genomes]
rs1580659	0.82[EUR][1000 genomes]
rs1602838	0.95[EUR][1000 genomes]
rs17123346	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2131542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2886000	0.90[EUR][1000 genomes]
rs3847664	0.95[EUR][1000 genomes]
rs4298941	0.90[EUR][1000 genomes]
rs4329723	0.90[EUR][1000 genomes]
rs4335582	0.82[EUR][1000 genomes]
rs4378430	0.90[EUR][1000 genomes]
rs4417317	0.90[EUR][1000 genomes]
rs4444112	0.90[EUR][1000 genomes]
rs4444113	0.90[EUR][1000 genomes]
rs4459343	0.86[EUR][1000 genomes]
rs4499037	0.90[EUR][1000 genomes]
rs4567506	0.90[EUR][1000 genomes]
rs4573715	0.86[EUR][1000 genomes]
rs4758856	0.90[EUR][1000 genomes]
rs4758857	0.90[EUR][1000 genomes]
rs57357322	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6581298	0.90[EUR][1000 genomes]
rs6581302	0.90[EUR][1000 genomes]
rs6581306	0.90[EUR][1000 genomes]
rs6581307	0.90[EUR][1000 genomes]
rs6581309	0.90[EUR][1000 genomes]
rs7132009	0.82[EUR][1000 genomes]
rs7132272	0.90[EUR][1000 genomes]
rs7132358	0.90[EUR][1000 genomes]
rs7132591	0.90[EUR][1000 genomes]
rs7136169	0.90[EUR][1000 genomes]
rs7136385	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136946	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138272	0.82[EUR][1000 genomes]
rs7296160	0.82[EUR][1000 genomes]
rs7298962	0.90[EUR][1000 genomes]
rs7301861	0.90[EUR][1000 genomes]
rs7303750	0.90[EUR][1000 genomes]
rs7304826	0.90[EUR][1000 genomes]
rs7307413	0.90[EUR][1000 genomes]
rs7314797	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7314798	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73364884	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953100	0.82[EUR][1000 genomes]
rs7956125	0.90[EUR][1000 genomes]
rs7957393	0.90[EUR][1000 genomes]
rs7958344	0.90[EUR][1000 genomes]
rs7960579	0.90[EUR][1000 genomes]
rs7962272	0.90[EUR][1000 genomes]
rs7967253	0.90[EUR][1000 genomes]
rs7971049	0.90[EUR][1000 genomes]
rs7971364	0.90[EUR][1000 genomes]
rs7976780	0.90[EUR][1000 genomes]
rs7977625	0.82[EUR][1000 genomes]
rs7977894	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980140	0.90[EUR][1000 genomes]
rs970975	0.90[EUR][1000 genomes]
rs973417	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899136	chr12:60373244-60483607	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv559103	chr12:60383069-60483607	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1048137	chr12:60432594-60515455	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv428591	chr12:60446360-60631044	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv427913	chr12:60462443-60569344	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60478000-60489000	Weak transcription	Pancreas	Pancrea
2	chr12:60478600-60492800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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