Variant report

Variant	rs17122029
Chromosome Location	chr12:47901903-47901904
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11168131	1.00[AMR][1000 genomes]
rs12304012	1.00[AMR][1000 genomes]
rs12314192	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12315085	1.00[AMR][1000 genomes]
rs12315249	1.00[AMR][1000 genomes]
rs4522258	1.00[AMR][1000 genomes]
rs59967762	1.00[AMR][1000 genomes]
rs7312433	1.00[AMR][1000 genomes]
rs74084592	1.00[AMR][1000 genomes]
rs74085959	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	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv832400	chr12:47840248-48024605	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv430507	chr12:47883933-48079507	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1051131	chr12:47883981-48016556	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47897800-47902000	Enhancers	NHDF-Ad	bronchial
2	chr12:47898200-47905000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr12:47899000-47902000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:47899200-47903200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:47899600-47902600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:47899600-47903000	Weak transcription	NHLF	lung
7	chr12:47899600-47903400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:47899800-47902600	Weak transcription	Colon Smooth Muscle	Colon
9	chr12:47899800-47903400	Weak transcription	HSMM	muscle
10	chr12:47900000-47903400	Weak transcription	NH-A	brain
11	chr12:47901400-47902400	Weak transcription	HMEC	breast
12	chr12:47901400-47903400	Weak transcription	NHEK	skin
13	chr12:47901600-47902600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:47901600-47902600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:47901600-47902600	Weak transcription	Osteobl	bone
16	chr12:47901600-47903200	Weak transcription	HSMMtube	muscle
17	chr12:47901600-47903400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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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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