Variant report

Variant	rs16918120
Chromosome Location	chr12:9303513-9303514
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs16917975	1.00[AMR][1000 genomes]
rs16918033	1.00[AMR][1000 genomes]
rs16918292	1.00[AMR][1000 genomes]
rs1805748	1.00[AMR][1000 genomes]
rs1805764	1.00[AMR][1000 genomes]
rs1805769	1.00[AMR][1000 genomes]
rs56966204	1.00[AMR][1000 genomes]
rs58537365	1.00[AMR][1000 genomes]
rs59792548	1.00[AMR][1000 genomes]
rs60190629	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7297635	1.00[AMR][1000 genomes]
rs7304882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060300	1.00[AMR][1000 genomes]
rs74060302	1.00[AMR][1000 genomes]
rs74060475	1.00[AMR][1000 genomes]
rs74060477	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061403	1.00[AMR][1000 genomes]
rs74061408	1.00[AMR][1000 genomes]
rs74061444	1.00[AMR][1000 genomes]
rs7980046	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv523958	chr12:9303440-9549072	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 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	chr12:9296800-9304200	Weak transcription	Psoas Muscle	Psoas
4	chr12:9297000-9316600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr12:9298400-9314400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr12:9298600-9311200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:9299400-9304800	Weak transcription	Left Ventricle	heart
8	chr12:9300600-9308800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:9301200-9304200	Genic enhancers	Liver	Liver
10	chr12:9302400-9304400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:9302400-9305400	Weak transcription	Primary T cells from cord blood	blood
12	chr12:9303000-9304200	Weak transcription	Hela-S3	cervix
13	chr12:9303200-9312800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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