Variant report

Variant	rs2219754
Chromosome Location	chr2:182248894-182248895
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10178445	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10183522	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10497578	0.80[ASN][1000 genomes]
rs16867404	1.00[CEU][hapmap];0.94[JPT][hapmap]
rs16867407	0.80[ASN][1000 genomes]
rs16867409	0.81[ASN][1000 genomes]
rs16867411	0.82[ASN][1000 genomes]
rs16867412	0.82[ASN][1000 genomes]
rs16867414	0.82[EUR][1000 genomes]
rs16867415	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16867417	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16867418	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16867421	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16867422	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867424	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4627521	0.80[ASN][1000 genomes]
rs56144959	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57112009	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59403061	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60453369	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60481141	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61097715	0.82[EUR][1000 genomes];0.88[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	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
2	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
3	nsv1002647	chr2:182078521-182392273	Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv536064	chr2:182078521-182392273	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv834476	chr2:182179249-182360259	Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182237800-182249600	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr2:182238000-182258200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr2:182240000-182257400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:182241600-182258200	Weak transcription	Fetal Thymus	thymus
5	chr2:182248400-182249200	Strong transcription	Primary T cells from cord blood	blood
6	chr2:182248800-182249200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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