Variant report

Variant	rs4972852
Chromosome Location	chr2:173555370-173555371
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12615889	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12622335	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16860794	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16860795	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16860798	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16860805	0.91[EUR][1000 genomes]
rs16860809	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2034854	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2054162	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2084731	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2084732	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2122832	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4313941	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4404239	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4482449	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4972514	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4972515	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4972845	0.85[EUR][1000 genomes]
rs4972849	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4972850	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4972851	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs733331	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv583665	chr2:173460640-173643087	Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv274888	chr2:173550156-173559068	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3459876	chr2:173554025-173556540	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
6	esv3459874	chr2:173554392-173556311	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
7	esv3459873	chr2:173554457-173556240	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
8	esv3459877	chr2:173554471-173556238	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173549800-173557400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:173550400-173557200	Weak transcription	Fetal Heart	heart
3	chr2:173552000-173557400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:173553400-173556800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:173555200-173557200	Weak transcription	Primary T cells from cord blood	blood

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