Variant report

Variant	rs12747353
Chromosome Location	chr1:226813625-226813626
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3738722	0.82[AMR][1000 genomes]
rs3754378	0.87[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs697846	0.88[EUR][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	nsv470779	chr1:226778432-226833304	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv873234	chr1:226779449-226859676	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv522446	chr1:226785530-226923938	Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226806200-226825800	Weak transcription	Right Atrium	heart
2	chr1:226810600-226822600	Weak transcription	Gastric	stomach
3	chr1:226811600-226814000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:226812000-226814000	Weak transcription	Primary T cells from cord blood	blood
5	chr1:226812000-226814200	Enhancers	NHEK	skin
6	chr1:226812200-226814200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:226812200-226814200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:226812400-226814000	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:226812400-226817800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:226812600-226814000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:226812600-226814000	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:226813000-226814000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:226813200-226814800	Enhancers	Fetal Brain Male	brain
14	chr1:226813400-226813800	Weak transcription	Spleen	Spleen
15	chr1:226813400-226814000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:226813600-226813800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr1:226813600-226813800	Enhancers	Lung	lung
18	chr1:226813600-226814000	Enhancers	Primary B cells from peripheral blood	blood
19	chr1:226813600-226814200	Enhancers	Right Ventricle	heart

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Input of quick search could be:

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

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