Variant report

Variant	rs62248793
Chromosome Location	chr3:42493079-42493080
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12107038	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13324412	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]

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	nsv529987	chr3:41921995-42591771	Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1005533	chr3:41953873-42596375	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42490200-42493200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr3:42491000-42493200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:42492400-42493200	Enhancers	Stomach Smooth Muscle	stomach
4	chr3:42492400-42493600	Enhancers	Placenta	Placenta
5	chr3:42492400-42493600	Enhancers	HMEC	breast
6	chr3:42492400-42493800	Enhancers	HSMMtube	muscle
7	chr3:42492400-42493800	Enhancers	HUVEC	blood vessel
8	chr3:42492600-42493400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:42492600-42493800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr3:42492600-42493800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:42492600-42493800	Enhancers	NHEK	skin
12	chr3:42492600-42494000	Enhancers	Fetal Heart	heart
13	chr3:42493000-42493800	Enhancers	Colon Smooth Muscle	Colon
14	chr3:42493000-42493800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr3:42493000-42493800	Enhancers	Skeletal Muscle Female	skeletal muscle

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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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