Variant report

Variant	rs2028243
Chromosome Location	chr8:105740569-105740570
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:105725698..105727282-chr8:105737910..105740574,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11775279	1.00[ASN][1000 genomes]
rs11780991	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13250799	0.84[CEU][hapmap];0.85[YRI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13251577	0.84[CEU][hapmap];0.85[YRI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13253231	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13263407	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13263691	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13263724	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13281201	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1370798	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1438341	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17263776	1.00[CEU][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341866	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34027648	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34080218	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34989786	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35641998	1.00[ASN][1000 genomes]
rs35699791	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35931188	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36069650	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36072167	0.94[CEU][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4545061	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4613969	1.00[ASN][1000 genomes]
rs4734110	1.00[ASN][1000 genomes]
rs4734805	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734806	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734814	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734816	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57857375	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674139	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7465486	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv2422460	chr8:105573376-105746329	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1032476	chr8:105609904-106030916	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv539710	chr8:105609904-106030916	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105736200-105743800	Weak transcription	Fetal Brain Female	brain
2	chr8:105738400-105742000	Weak transcription	Fetal Brain Male	brain
3	chr8:105739400-105743400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr8:105739400-105743400	Weak transcription	Thymus	Thymus
5	chr8:105739400-105743800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr8:105739600-105743400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:105740000-105743400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr8:105740000-105743600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr8:105740200-105742600	Weak transcription	Primary T cells from cord blood	blood

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