Variant report

Variant	rs60378784
Chromosome Location	chr3:158349312-158349313
allele	A/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	POLR2A	chr3:158345592-158351341	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000243165	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs13316522	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28825222	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28838673	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28892926	0.92[AFR][1000 genomes]
rs6781894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73024716	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73028908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73028942	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73028945	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73030846	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9810232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9814215	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9815159	1.00[AMR][1000 genomes]
rs9828477	1.00[AMR][1000 genomes]
rs9830695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9833662	1.00[AMR][1000 genomes]
rs9846674	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9860148	1.00[AMR][1000 genomes]
rs9864685	1.00[AMR][1000 genomes]
rs9867378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002378	chr3:157715428-158673414	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1014381	chr3:158070451-158350118	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1004124	chr3:158146715-158808638	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2763312	chr3:158193512-158420588	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv877691	chr3:158245883-158359667	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv869644	chr3:158308783-158426343	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv530059	chr3:158332590-159147549	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	esv999299	chr3:158348460-158358157	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	inside rSNPs	diseases
9	esv3461211	chr3:158348758-158353756	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158349000-158351800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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