Variant report

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

rs_ID	r²[population]
rs1006410	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1072724	0.84[EUR][1000 genomes]
rs10843376	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10843385	0.82[EUR][1000 genomes]
rs11050147	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11050168	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12301475	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17715086	0.82[EUR][1000 genomes]
rs2288128	0.83[EUR][1000 genomes]
rs2288129	0.83[EUR][1000 genomes]
rs2350315	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3782505	0.84[EUR][1000 genomes]
rs3782510	0.83[EUR][1000 genomes]
rs3948497	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4277150	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4931171	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7299283	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7313552	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7315346	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7358667	0.84[EUR][1000 genomes]
rs7964831	0.84[EUR][1000 genomes]
rs986072	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11050149	RP11-996F15.2	cis	Thyroid	GTEx
rs11050149	RP11-996F15.2	cis	lung	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29391600-29400600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:29391800-29400600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:29395000-29398800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:29396000-29398400	Weak transcription	Small Intestine	intestine
5	chr12:29396000-29400000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:29396000-29400200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr12:29396200-29399000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:29396600-29398200	Weak transcription	Adipose Nuclei	Adipose
9	chr12:29396800-29413200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:29397200-29398800	Enhancers	NHDF-Ad	bronchial
11	chr12:29397600-29400000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr12:29397800-29398200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:29397800-29398200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr12:29397800-29398400	Enhancers	GM12878-XiMat	blood
15	chr12:29397800-29401600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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