Variant report

Variant	rs73227955
Chromosome Location	chr12:122141081-122141082
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2871131	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56331304	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60596226	0.95[EUR][1000 genomes]
rs73229914	0.95[EUR][1000 genomes]
rs73229915	0.95[EUR][1000 genomes]
rs7398276	0.89[EUR][1000 genomes];0.91[ASN][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv9816	chr12:122138748-122142224	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 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	chr12:122121800-122149600	Weak transcription	Right Atrium	heart
2	chr12:122138600-122142400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:122139000-122141400	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr12:122139200-122141400	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr12:122139600-122141200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr12:122139800-122141200	Enhancers	Psoas Muscle	Psoas
7	chr12:122141000-122141200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:122141000-122141200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:122141000-122141600	Enhancers	Placenta	Placenta

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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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