Variant report

Variant	rs16867393
Chromosome Location	chr2:182133051-182133052
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10189949	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10203988	0.80[AMR][1000 genomes]
rs10209981	0.80[AMR][1000 genomes]
rs10211135	0.80[AMR][1000 genomes]
rs10497576	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12621029	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12621069	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13428406	0.80[AMR][1000 genomes]
rs16867385	0.80[AMR][1000 genomes]
rs16867386	0.80[AMR][1000 genomes]
rs16867388	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16867390	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867391	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867392	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867395	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16867396	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16867404	0.87[CEU][hapmap];0.81[CHB][hapmap]
rs17455869	0.83[AMR][1000 genomes]
rs57709991	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58314357	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58869569	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6433905	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7579986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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	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

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182117800-182140200	Weak transcription	Dnd41	blood
2	chr2:182117800-182140600	Weak transcription	Fetal Thymus	thymus
3	chr2:182128000-182133400	Weak transcription	HSMMtube	muscle
4	chr2:182128000-182134600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:182128000-182135000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr2:182128400-182139800	Weak transcription	Primary T cells from cord blood	blood
7	chr2:182128400-182139800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:182129000-182135000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:182129000-182135400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:182129000-182135400	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr2:182129200-182135400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:182131800-182133200	Weak transcription	Fetal Brain Male	brain
13	chr2:182133000-182133800	Enhancers	GM12878-XiMat	blood

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