Variant report

Variant	rs73246344
Chromosome Location	chr12:9293578-9293579
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11831631	1.00[AMR][1000 genomes]
rs11831793	1.00[AMR][1000 genomes]
rs11832509	1.00[AMR][1000 genomes]
rs11833184	1.00[AMR][1000 genomes]
rs11833893	1.00[AMR][1000 genomes]
rs1805684	1.00[AMR][1000 genomes]
rs1805686	1.00[AMR][1000 genomes]
rs1805694	1.00[AMR][1000 genomes]
rs3026223	1.00[AMR][1000 genomes]
rs3026224	1.00[AMR][1000 genomes]
rs3026228	1.00[AMR][1000 genomes]
rs3026231	1.00[AMR][1000 genomes]
rs35040316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57018529	1.00[AMR][1000 genomes]
rs58097118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58565807	1.00[AMR][1000 genomes]
rs60105910	1.00[AMR][1000 genomes]
rs60289110	1.00[AMR][1000 genomes]
rs73240200	1.00[AMR][1000 genomes]
rs73240201	1.00[AMR][1000 genomes]
rs73241907	1.00[AMR][1000 genomes]
rs73241991	1.00[AMR][1000 genomes]
rs73241999	1.00[AMR][1000 genomes]
rs73244203	1.00[AMR][1000 genomes]
rs73244209	1.00[AMR][1000 genomes]
rs73244216	1.00[AMR][1000 genomes]
rs73244223	1.00[AMR][1000 genomes]
rs73244234	1.00[AMR][1000 genomes]
rs73244245	1.00[AMR][1000 genomes]
rs73246318	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246327	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246334	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246337	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1048491	chr12:9208806-9544655	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS 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	35 gene(s)	inside rSNPs	diseases
3	esv3504674	chr12:9243858-9318016	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3502154	chr12:9243906-9317851	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3502155	chr12:9243906-9317851	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3504685	chr12:9243948-9317959	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv527404	chr12:9250601-9435244	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
8	nsv976735	chr12:9274937-9303290	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3345768	chr12:9292598-9297390	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9269000-9319200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:9280800-9310400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:9291200-9296400	Enhancers	Hela-S3	cervix
4	chr12:9293200-9303200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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