Variant report

Variant	rs73119086
Chromosome Location	chr1:222590768-222590769
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	0.96[AFR][1000 genomes]
rs73119050	1.00[EUR][1000 genomes]
rs73119052	1.00[EUR][1000 genomes]
rs73119054	1.00[EUR][1000 genomes]
rs73119058	1.00[EUR][1000 genomes]
rs73119062	1.00[EUR][1000 genomes]
rs73119064	1.00[EUR][1000 genomes]
rs73119071	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73119083	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73119092	1.00[EUR][1000 genomes]
rs73119096	0.96[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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222589000-222590800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:222589400-222593600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr1:222589600-222591600	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr1:222589600-222593600	Enhancers	Primary T cells from cord blood	blood
5	chr1:222589600-222593800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:222589600-222593800	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr1:222589600-222596000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr1:222589800-222592200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr1:222590400-222591000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:222590600-222590800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:222590600-222591000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr1:222590600-222591000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr1:222590600-222591000	Flanking Active TSS	GM12878-XiMat	blood
14	chr1:222590600-222593600	Enhancers	Primary T regulatory 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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