Variant report

Variant	rs3934476
Chromosome Location	chr5:74242852-74242853
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10066902	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10078075	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10805892	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12515649	0.95[ASN][1000 genomes]
rs4072296	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4235682	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4368710	0.84[EUR][1000 genomes]
rs4413513	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6453100	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6453102	0.82[EUR][1000 genomes]
rs6863602	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6883719	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6898812	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[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	nsv518286	chr5:74169045-74243120	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74238800-74243800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr5:74238800-74243800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:74238800-74243800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr5:74239000-74243800	Weak transcription	Spleen	Spleen
5	chr5:74239600-74243800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:74239600-74243800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:74241400-74244200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:74241400-74244600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr5:74241400-74245600	Enhancers	NHDF-Ad	bronchial
10	chr5:74241400-74246200	Enhancers	HepG2	liver
11	chr5:74241600-74243200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:74241600-74243800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:74241600-74244200	Enhancers	NHLF	lung
14	chr5:74241600-74244600	Enhancers	Duodenum Mucosa	Duodenum
15	chr5:74241600-74248000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:74241800-74243600	Enhancers	Fetal Intestine Large	intestine
17	chr5:74241800-74243800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:74241800-74243800	Enhancers	Fetal Intestine Small	intestine
19	chr5:74241800-74244800	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr5:74242400-74244800	Enhancers	Stomach Mucosa	stomach
21	chr5:74242600-74243600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:74242800-74244000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:74242800-74244200	Weak transcription	Pancreas	Pancrea

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