Variant report

Variant	rs2970783
Chromosome Location	chr12:22262907-22262908
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2541298	1.00[AMR][1000 genomes]
rs2909059	1.00[AMR][1000 genomes]
rs2909066	1.00[AMR][1000 genomes]
rs2909076	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2909077	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2909078	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2909079	1.00[AMR][1000 genomes]
rs2909084	1.00[AMR][1000 genomes]
rs2955497	1.00[AMR][1000 genomes]
rs2970781	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2970782	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2970790	1.00[AMR][1000 genomes]
rs71530947	1.00[AMR][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	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2758298	chr12:22140834-22339299	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2759883	chr12:22140834-22736907	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv437729	chr12:22234058-22268523	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22256000-22271000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:22262000-22263800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:22262200-22263600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:22262400-22263800	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr12:22262600-22263200	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr12:22262600-22263800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr12:22262600-22263800	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr12:22262800-22263600	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr12:22262800-22263600	Enhancers	Fetal Thymus	thymus

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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