Variant report

Variant	rs6453100
Chromosome Location	chr5:74265859-74265860
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10045282	0.82[ASN][1000 genomes]
rs10066902	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10078075	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10805892	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10942726	0.84[ASN][1000 genomes]
rs11748722	0.82[ASN][1000 genomes]
rs12515649	0.81[ASN][1000 genomes]
rs3934476	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4235682	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4368710	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4382144	0.81[ASN][1000 genomes]
rs4392602	0.89[ASN][1000 genomes]
rs4413513	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4703642	0.90[ASN][1000 genomes]
rs6453099	0.90[ASN][1000 genomes]
rs6453102	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6863602	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6883719	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6898812	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7736223	0.90[ASN][1000 genomes]
rs9293637	0.90[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	nsv830352	chr5:74189495-74337944	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1018865	chr5:74246293-74494552	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74253600-74269200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:74255000-74272600	Weak transcription	Gastric	stomach
3	chr5:74260800-74269000	Enhancers	Stomach Mucosa	stomach
4	chr5:74261400-74268600	Enhancers	Fetal Intestine Large	intestine
5	chr5:74261600-74268000	Enhancers	Fetal Intestine Small	intestine
6	chr5:74261600-74268400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:74261800-74267600	Enhancers	Duodenum Mucosa	Duodenum
8	chr5:74261800-74290400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:74262200-74267400	Weak transcription	Small Intestine	intestine
10	chr5:74262800-74270200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:74263000-74266600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr5:74265400-74267600	Enhancers	HepG2	liver
13	chr5:74265600-74267200	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr5:74265800-74275000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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