Variant report

Variant	rs1493218
Chromosome Location	chr4:131123054-131123055
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11730094	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11734473	0.89[EUR][1000 genomes]
rs11734574	0.94[EUR][1000 genomes]
rs13110934	0.93[EUR][1000 genomes]
rs13111161	0.94[EUR][1000 genomes]
rs1493219	0.89[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs35327820	0.91[EUR][1000 genomes]
rs62310909	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv595416	chr4:130998472-131834405	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2762461	chr4:131004382-131391658	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1025539	chr4:131033276-131728033	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv537253	chr4:131033276-131728033	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv830061	chr4:131064845-131228710	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv879937	chr4:131065136-131174088	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv879938	chr4:131109983-131194571	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1017784	chr4:131115020-131882664	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv537254	chr4:131115020-131882664	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr4:131122600-131123600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:131122600-131123600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:131122600-131123600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:131122600-131124000	ZNF genes & repeats	Dnd41	blood
5	chr4:131122600-131124200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
6	chr4:131122600-131124200	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chr4:131122800-131125000	ZNF genes & repeats	Pancreas	Pancrea
8	chr4:131122800-131125200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:131123000-131125200	ZNF genes & repeats	Liver	Liver

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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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