Variant report

Variant	rs73119071
Chromosome Location	chr1:222578319-222578320
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs4846366	0.93[AFR][1000 genomes]
rs73119050	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73119052	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73119054	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73119058	1.00[EUR][1000 genomes]
rs73119062	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73119064	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73119083	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73119086	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73119092	1.00[EUR][1000 genomes]
rs73119096	0.93[AFR][1000 genomes]
rs73119097	1.00[EUR][1000 genomes]
rs73120914	1.00[EUR][1000 genomes]
rs73120917	1.00[EUR][1000 genomes]
rs73120920	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873203	chr1:222332906-222775000	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv873204	chr1:222484745-222611210	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222577800-222578600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr1:222578000-222578600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
3	chr1:222578000-222578600	Active TSS	A549	lung
4	chr1:222578200-222578400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:222578200-222578400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
6	chr1:222578200-222578400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
7	chr1:222578200-222578600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:222578200-222578600	Active TSS	Primary T helper naive cells from peripheral blood	blood
9	chr1:222578200-222578600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:222578200-222578600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:222578200-222578600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:222578200-222578600	Active TSS	GM12878-XiMat	blood
13	chr1:222578200-222578600	Active TSS	Hela-S3	cervix
14	chr1:222578200-222578600	Active TSS	Osteobl	bone
15	chr1:222578200-222578800	Active TSS	Primary T helper cells fromperipheralblood	blood

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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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