Variant report

Variant	rs6719497
Chromosome Location	chr2:182035463-182035464
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11904405	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17198619	1.00[ASN][1000 genomes]
rs4583420	1.00[ASN][1000 genomes]
rs62178847	1.00[ASN][1000 genomes]
rs62178848	1.00[ASN][1000 genomes]
rs62178851	1.00[ASN][1000 genomes]
rs62178852	1.00[ASN][1000 genomes]
rs62178855	1.00[ASN][1000 genomes]
rs62178859	1.00[ASN][1000 genomes]
rs62180161	1.00[ASN][1000 genomes]
rs62180162	1.00[ASN][1000 genomes]
rs62180166	1.00[EUR][1000 genomes]
rs62180167	1.00[ASN][1000 genomes]
rs62180168	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62180169	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62180174	1.00[ASN][1000 genomes]
rs62180176	1.00[ASN][1000 genomes]
rs62180186	1.00[ASN][1000 genomes]
rs62180188	1.00[ASN][1000 genomes]
rs62180190	1.00[ASN][1000 genomes]
rs62180194	1.00[ASN][1000 genomes]
rs62180197	1.00[ASN][1000 genomes]
rs62180198	1.00[ASN][1000 genomes]
rs62180200	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433896	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6738120	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6758061	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73976816	0.94[EUR][1000 genomes]
rs7577144	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606704	1.00[ASN][1000 genomes]
rs9679289	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431824	chr2:181946115-182118559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers 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	39 gene(s)	inside rSNPs	diseases
4	nsv459954	chr2:181975252-182040293	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv583910	chr2:181975252-182040293	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182031800-182050400	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr2:182032400-182048400	Weak transcription	Fetal Thymus	thymus
3	chr2:182033600-182037000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:182033800-182036200	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr2:182033800-182036400	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr2:182034000-182036000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr2:182034200-182036000	Enhancers	GM12878-XiMat	blood
8	chr2:182034200-182036200	Enhancers	Primary T cells from cord blood	blood
9	chr2:182034200-182036200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr2:182034200-182036400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:182034200-182036400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:182034200-182036400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr2:182035000-182039800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:182035200-182038000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:182035200-182042800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr2:182035200-182044800	Weak transcription	Dnd41	blood
17	chr2:182035200-182048800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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