Variant report

Variant	rs2082591
Chromosome Location	chr8:42642735-42642736
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10087172	0.85[AMR][1000 genomes]
rs10092346	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10105699	0.88[ASN][1000 genomes]
rs10107450	0.91[AMR][1000 genomes]
rs10108797	0.84[AMR][1000 genomes]
rs10109040	0.85[AMR][1000 genomes]
rs10110332	0.81[AMR][1000 genomes]
rs11986893	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11995030	0.85[AMR][1000 genomes]
rs1960346	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2117225	0.85[AMR][1000 genomes]
rs2196128	0.84[AMR][1000 genomes]
rs2217732	0.82[AMR][1000 genomes]
rs28501554	0.84[AMR][1000 genomes]
rs28784665	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28826992	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34996273	0.93[ASN][1000 genomes]
rs4509313	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4567031	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4737068	0.85[AMR][1000 genomes]
rs4737071	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56395510	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6474418	0.91[AMR][1000 genomes]
rs6474420	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6984252	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6999449	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7000412	0.82[AMR][1000 genomes]
rs7001753	0.82[AMR][1000 genomes]
rs7003968	0.89[ASN][1000 genomes]
rs7005126	0.91[ASN][1000 genomes]
rs7015935	0.80[AMR][1000 genomes]
rs7825261	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7826201	0.87[ASN][1000 genomes]
rs7831096	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7841834	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7845365	0.90[ASN][1000 genomes]
rs892413	0.85[AMR][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	nsv530880	chr8:41895241-42755506	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1034724	chr8:42386707-42772203	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv428516	chr8:42577171-42731235	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
4	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42639400-42644000	Weak transcription	Thymus	Thymus
2	chr8:42639400-42644800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:42639600-42642800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr8:42639600-42642800	Weak transcription	GM12878-XiMat	blood
5	chr8:42639600-42643000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr8:42639600-42643400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr8:42639600-42643600	Weak transcription	K562	blood
8	chr8:42639600-42644600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:42639800-42643000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr8:42640000-42643600	Weak transcription	Primary B cells from cord blood	blood
11	chr8:42640000-42643600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr8:42641800-42645200	Enhancers	Dnd41	blood
13	chr8:42642200-42644400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:42642200-42651800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:42642600-42642800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:42642600-42643600	Enhancers	Primary T cells fromperipheralblood	blood

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