Variant report

Variant	rs73410812
Chromosome Location	chr12:120475238-120475239
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10774539	0.81[AFR][1000 genomes]
rs10774540	0.81[AFR][1000 genomes]
rs1151821	1.00[EUR][1000 genomes]
rs1166789	1.00[EUR][1000 genomes]
rs1632619	1.00[EUR][1000 genomes]
rs56836390	1.00[EUR][1000 genomes]
rs58682372	1.00[EUR][1000 genomes]
rs59470045	1.00[EUR][1000 genomes]
rs59643776	1.00[EUR][1000 genomes]
rs60175203	1.00[EUR][1000 genomes]
rs7139220	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7300790	1.00[EUR][1000 genomes]
rs73404500	1.00[EUR][1000 genomes]
rs73406722	1.00[EUR][1000 genomes]
rs73406751	1.00[EUR][1000 genomes]
rs73410821	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73410841	1.00[EUR][1000 genomes]
rs7980464	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv899554	chr12:120389613-120513625	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120454000-120478800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr12:120454200-120477800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:120454200-120478400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr12:120454200-120484800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:120454600-120479600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:120462400-120478600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr12:120463600-120479000	Weak transcription	Primary T cells from cord blood	blood
8	chr12:120472200-120475600	Weak transcription	HMEC	breast
9	chr12:120472800-120478000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr12:120474800-120476000	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr12:120475200-120476200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:120475200-120476200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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