Variant report

Variant	rs60436538
Chromosome Location	chr12:41105568-41105569
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11832147	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11834010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11836043	1.00[EUR][1000 genomes]
rs11837062	0.83[EUR][1000 genomes]
rs11837294	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12318461	1.00[EUR][1000 genomes]
rs1584091	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1596514	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1596539	1.00[EUR][1000 genomes]
rs17120927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17120936	0.83[ASN][1000 genomes]
rs17128669	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128670	1.00[ASN][1000 genomes]
rs17128674	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128676	1.00[ASN][1000 genomes]
rs17128696	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17128701	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128710	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128725	0.83[ASN][1000 genomes]
rs2053630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4426201	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59257821	1.00[EUR][1000 genomes]
rs6581932	1.00[EUR][1000 genomes]
rs7132304	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132869	1.00[EUR][1000 genomes]
rs7301307	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965788	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7966261	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv832378	chr12:40943111-41132305	Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv427909	chr12:41054306-41322257	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv832379	chr12:41054440-41232749	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv2751098	chr12:41082399-41180235	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1044513	chr12:41091822-41175151	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv558696	chr12:41092666-41172010	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41092800-41121400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:41093800-41121000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:41102800-41107800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:41104600-41105600	Enhancers	GM12878-XiMat	blood
5	chr12:41105200-41105800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:41105400-41107600	Weak transcription	A549	lung

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