Variant report

Variant	rs249988
Chromosome Location	chr5:107080180-107080181
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:4)

rs_ID	r²[population]
rs11959432	1.00[AFR][1000 genomes]
rs154181	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35537	0.84[ASN][1000 genomes]
rs72660778	1.00[AFR][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	esv34018	chr5:106720912-107110506	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv830440	chr5:107074116-107278905	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr5:107079200-107081800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr5:107079200-107082400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr5:107079400-107080200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr5:107079400-107080400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:107079400-107080800	Weak transcription	HSMMtube	muscle
6	chr5:107079400-107081200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr5:107079400-107081600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr5:107079400-107081600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr5:107079600-107080600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:107079600-107081200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:107079600-107081600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr5:107079800-107081000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr5:107080000-107081000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:107080000-107082400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:107080000-107083000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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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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