Variant report

Variant	rs11048494
Chromosome Location	chr12:9172332-9172333
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11048496	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11502446	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12303154	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12322917	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12423652	0.81[EUR][1000 genomes]
rs12809367	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12811795	0.81[EUR][1000 genomes]
rs12812329	0.98[ASN][1000 genomes]
rs12826054	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12826978	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12828013	0.96[ASN][1000 genomes]
rs17730331	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1805668	0.80[EUR][1000 genomes]
rs1805669	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1805670	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1805671	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1805672	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1805673	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1805674	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1805675	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1805676	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1805707	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1805716	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2159959	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2159960	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2377678	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2377679	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2889705	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3026243	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3026244	0.80[EUR][1000 genomes]
rs3026251	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3026252	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34236568	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34365749	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34533518	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34651717	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35176717	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35377225	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35596029	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35882740	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3741854	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4883206	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4883208	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4883209	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56143043	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60267183	0.80[EUR][1000 genomes]
rs61915986	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61916006	0.80[EUR][1000 genomes]
rs7136274	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7136774	0.81[EUR][1000 genomes]
rs7302472	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7311267	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7311509	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs759469	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs759470	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7953214	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7957626	0.90[AMR][1000 genomes];0.93[EUR][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	nsv832327	chr12:9081779-9246220	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	esv2754892	chr12:9136351-9179007	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv973020	chr12:9163929-9182709	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9165800-9182400	Weak transcription	Adipose Nuclei	Adipose
2	chr12:9168600-9175200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:9169000-9174600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:9169000-9176000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:9170000-9173400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:9170400-9174800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr12:9170400-9174800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:9171000-9177000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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