Variant report

Variant	rs2703486
Chromosome Location	chr4:55436680-55436681
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11732772	0.92[EUR][1000 genomes]
rs17826456	0.83[EUR][1000 genomes]
rs218229	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2703487	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][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	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv997430	chr4:55253397-55529288	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55434600-55439400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr4:55435000-55437400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:55436000-55437000	Enhancers	K562	blood
4	chr4:55436400-55436800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:55436400-55437600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
6	chr4:55436400-55438000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
7	chr4:55436400-55438400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:55436400-55439000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
9	chr4:55436600-55437400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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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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