Variant report

Variant	rs56747461
Chromosome Location	chr1:169654798-169654799
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2272819	0.90[EUR][1000 genomes]
rs3917458	0.93[EUR][1000 genomes]
rs3917460	0.82[EUR][1000 genomes]
rs4987347	0.90[EUR][1000 genomes]
rs4987352	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4987357	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4987361	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4987364	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4987373	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4987377	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4987396	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4987397	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4987404	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5355	0.93[EUR][1000 genomes]
rs60909528	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532586	chr1:169593222-169713184	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169647800-169659600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr1:169647800-169660000	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr1:169648200-169659000	Enhancers	Primary B cells from peripheral blood	blood
4	chr1:169650600-169655800	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr1:169650600-169656600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:169650600-169657800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:169650600-169658400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:169650800-169657000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:169651600-169656600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:169652000-169657600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:169652200-169655000	Weak transcription	Primary T cells from cord blood	blood
12	chr1:169652800-169656400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:169652800-169660200	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr1:169653200-169656400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr1:169653200-169657000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr1:169653200-169671600	Weak transcription	Spleen	Spleen
17	chr1:169653400-169655200	Enhancers	Primary B cells from cord blood	blood
18	chr1:169653400-169656800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr1:169654000-169654800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:169654000-169657000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:169654400-169655400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
22	chr1:169654600-169656800	Weak transcription	Primary T cells fromperipheralblood	blood

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