Variant report

Variant	rs11686599
Chromosome Location	chr2:100753475-100753476
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11123808	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11677607	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11679078	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11680485	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11680586	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11682173	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11689956	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11691486	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11692215	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12712069	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12712072	0.84[EUR][1000 genomes]
rs13000759	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13010436	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13011181	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13011874	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13019618	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13022707	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13028981	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3748927	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4850920	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4851254	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4851262	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6713524	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7583067	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7596385	0.82[AMR][1000 genomes];0.89[EUR][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	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv458707	chr2:100687778-100753490	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv582529	chr2:100687778-100753490	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv582530	chr2:100739970-100774287	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100732000-100754400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr2:100742400-100753600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr2:100742400-100754000	Weak transcription	Gastric	stomach
4	chr2:100742800-100754000	Weak transcription	Lung	lung
5	chr2:100746200-100764800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:100747000-100753800	Weak transcription	Thymus	Thymus
7	chr2:100747200-100758400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:100750200-100754000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:100751000-100753600	Genic enhancers	Primary B cells from cord blood	blood
10	chr2:100751200-100754000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:100751200-100754400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:100751200-100755400	Genic enhancers	Primary B cells from peripheral blood	blood
13	chr2:100751400-100757000	Enhancers	Primary hematopoietic stem cells	blood
14	chr2:100751600-100756600	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr2:100752400-100753600	Weak transcription	Fetal Thymus	thymus
16	chr2:100752600-100753600	Enhancers	GM12878-XiMat	blood
17	chr2:100752600-100758200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr2:100752800-100753800	Enhancers	Dnd41	blood
19	chr2:100753000-100754400	Enhancers	Primary T cells from cord blood	blood
20	chr2:100753000-100758400	Weak transcription	Spleen	Spleen

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