Variant report

Variant	rs73120733
Chromosome Location	chr12:41248895-41248896
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs58464867	0.96[AFR][1000 genomes]
rs59498047	1.00[AFR][1000 genomes]
rs60903555	0.96[AFR][1000 genomes]
rs61000246	1.00[AFR][1000 genomes]
rs61017903	0.96[AFR][1000 genomes]
rs73118736	0.90[AFR][1000 genomes]
rs73120729	1.00[AFR][1000 genomes]
rs73120732	0.92[AFR][1000 genomes]
rs73120753	0.96[AFR][1000 genomes]
rs73120757	0.96[AFR][1000 genomes]
rs73120760	0.96[AFR][1000 genomes]
rs73120763	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv832380	chr12:41132306-41323961	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr12:41226800-41266400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:41247400-41249000	Enhancers	Fetal Brain Male	brain
3	chr12:41248200-41249000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:41248200-41249000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr12:41248400-41249000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr12:41248400-41249000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr12:41248600-41249000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr12:41248600-41249000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:41248600-41249000	Enhancers	iPS DF 6.9 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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