Variant report

Variant	rs72885888
Chromosome Location	chr2:50175882-50175883
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11897655	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58228125	1.00[AMR][1000 genomes]
rs59133746	1.00[AMR][1000 genomes]
rs60693233	1.00[AMR][1000 genomes]
rs72874678	1.00[AMR][1000 genomes]
rs72874680	1.00[AMR][1000 genomes]
rs72874682	1.00[AMR][1000 genomes]
rs72878133	1.00[AMR][1000 genomes]
rs72884140	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72884144	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885854	1.00[AMR][1000 genomes]
rs72885858	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885864	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885889	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885894	1.00[AMR][1000 genomes]
rs72885897	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885898	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72887830	1.00[AMR][1000 genomes]
rs72887834	1.00[AMR][1000 genomes]
rs72887861	1.00[AMR][1000 genomes]
rs72887901	1.00[AMR][1000 genomes]
rs72889504	1.00[AMR][1000 genomes]
rs72889507	1.00[AMR][1000 genomes]
rs72889549	1.00[AMR][1000 genomes]
rs72891409	1.00[AMR][1000 genomes]
rs72891421	1.00[AMR][1000 genomes]
rs72891431	1.00[AMR][1000 genomes]
rs72891432	1.00[AMR][1000 genomes]
rs72891470	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv934303	chr2:50145598-50412189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50141600-50187400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:50174600-50177400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:50174800-50180000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:50175000-50177200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:50175400-50176000	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr2:50175600-50176000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:50175600-50176200	Enhancers	Brain Angular Gyrus	brain
8	chr2:50175800-50176000	Enhancers	Fetal Brain Female	brain
9	chr2:50175800-50176800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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