Variant report

Variant	rs2385448
Chromosome Location	chr8:124566028-124566029
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:5)

rs_ID	r²[population]
rs16898571	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2385269	0.88[EUR][1000 genomes]
rs4388446	0.88[EUR][1000 genomes]
rs61510724	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990663	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr8:124558800-124571400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:124564800-124566600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:124565000-124566200	Enhancers	Fetal Muscle Leg	muscle
4	chr8:124565000-124566600	Enhancers	Fetal Brain Male	brain
5	chr8:124565200-124567000	Weak transcription	NHEK	skin
6	chr8:124565400-124566200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:124565400-124567800	Weak transcription	Fetal Stomach	stomach
8	chr8:124565400-124569800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:124565600-124566200	Enhancers	Osteobl	bone
10	chr8:124565800-124566200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:124565800-124566200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:124565800-124566600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:124565800-124569600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:124565800-124569600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:124566000-124566200	Enhancers	Fetal Thymus	thymus
16	chr8:124566000-124568200	Weak transcription	Adipose Nuclei	Adipose
17	chr8:124566000-124570000	Weak transcription	HMEC	breast

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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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