Variant report

Variant	rs57249657
Chromosome Location	chr12:26012975-26012976
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs57863170	0.91[AFR][1000 genomes]
rs74070893	1.00[AFR][1000 genomes]
rs74070894	1.00[AFR][1000 genomes]
rs74070895	1.00[AFR][1000 genomes]
rs74070897	1.00[AFR][1000 genomes]
rs74070898	1.00[AFR][1000 genomes]
rs74070902	1.00[AFR][1000 genomes]
rs74072207	1.00[AFR][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	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv522358	chr12:26006066-26013013	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26008400-26013000	Weak transcription	NHEK	skin
2	chr12:26009000-26015800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:26009000-26017000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:26011800-26013800	Enhancers	Primary T cells from cord blood	blood
5	chr12:26012200-26013800	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr12:26012200-26013800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:26012200-26014000	Enhancers	Fetal Thymus	thymus
8	chr12:26012400-26013200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr12:26012400-26013400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr12:26012400-26013400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:26012600-26013000	Enhancers	Placenta	Placenta
12	chr12:26012600-26013400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:26012800-26014000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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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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