Variant report

Variant	rs12257693
Chromosome Location	chr10:28014791-28014792
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12241763	0.83[AFR][1000 genomes]
rs12243231	0.95[YRI][hapmap];0.89[AFR][1000 genomes]
rs12244362	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12246640	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12249445	0.83[AFR][1000 genomes]
rs12263640	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12265151	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs12267176	0.80[AFR][1000 genomes]
rs58368872	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60120536	0.81[AFR][1000 genomes]
rs7078172	0.81[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv550241	chr10:27569521-28025771	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	esv3368825	chr10:27864181-28043820	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28004800-28014800	Weak transcription	Aorta	Aorta
2	chr10:28007200-28016000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:28012000-28014800	Enhancers	Osteobl	bone
4	chr10:28012400-28016200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr10:28012800-28014800	Weak transcription	Ovary	ovary
6	chr10:28012800-28020000	Weak transcription	Fetal Stomach	stomach
7	chr10:28013400-28014800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr10:28013400-28015000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr10:28013400-28016800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr10:28013400-28016800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr10:28013400-28020400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr10:28013800-28015000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr10:28014000-28017600	Active TSS	Stomach Smooth Muscle	stomach
14	chr10:28014200-28015600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr10:28014600-28015000	Enhancers	Colon Smooth Muscle	Colon
16	chr10:28014600-28015400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin

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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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