Variant report

Variant	rs4132660
Chromosome Location	chr12:60333256-60333257
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10082980	0.87[EUR][1000 genomes]
rs10083053	0.87[EUR][1000 genomes]
rs10747857	0.87[EUR][1000 genomes]
rs10784011	0.87[EUR][1000 genomes]
rs10784012	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10877366	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10877378	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11173232	0.91[EUR][1000 genomes]
rs11173234	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11173235	0.96[ASN][1000 genomes]
rs12231000	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12426916	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12578830	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4326838	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4415809	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4469929	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4474476	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4480575	0.82[ASN][1000 genomes]
rs4603345	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4630332	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4635120	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7301335	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302440	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73119606	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7487124	0.85[ASN][1000 genomes]
rs7957469	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7960213	0.87[EUR][1000 genomes]
rs7961087	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7970962	0.84[AMR][1000 genomes]
rs7971243	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	esv3365928	chr12:60042531-60343212	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2751107	chr12:60252000-60353533	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv826393	chr12:60293625-60359283	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4132660	R3HDM2	cis	cerebellum	SCAN
rs4132660	DNAJC14	cis	cerebellum	SCAN
rs4132660	STAT2	cis	cerebellum	SCAN
rs4132660	INHBC	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60330800-60333400	Enhancers	Fetal Heart	heart
2	chr12:60331400-60334400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:60332200-60333600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:60332600-60333800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:60332600-60334400	Enhancers	A549	lung
6	chr12:60333000-60334600	Enhancers	Fetal Lung	lung
7	chr12:60333200-60334800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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