Variant report

Variant	rs28478344
Chromosome Location	chr4:130995538-130995539
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12186167	0.85[ASN][1000 genomes]
rs13434533	0.86[ASN][1000 genomes]
rs2391597	0.85[ASN][1000 genomes]
rs28438639	0.86[ASN][1000 genomes]
rs28465597	0.85[ASN][1000 genomes]
rs28650462	0.82[ASN][1000 genomes]
rs28876716	0.83[ASN][1000 genomes]
rs55792571	0.90[EUR][1000 genomes]
rs55815336	0.85[ASN][1000 genomes]
rs59235089	0.85[ASN][1000 genomes]
rs60044019	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs67901610	0.90[EUR][1000 genomes]
rs6840686	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72678112	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv595412	chr4:130962263-131001046	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv461640	chr4:130962263-131003605	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv595413	chr4:130962263-131003605	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1027281	chr4:130962945-131005768	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1027051	chr4:130962945-131010834	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1019114	chr4:130962945-131013140	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv1027197	chr4:130965914-130998219	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv1028045	chr4:130965914-131004697	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv595414	chr4:130983055-131024471	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv595415	chr4:130983605-131046911	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130990000-130996800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr4:130992200-130995800	Enhancers	Fetal Intestine Large	intestine
3	chr4:130992800-130996000	Enhancers	Duodenum Mucosa	Duodenum
4	chr4:130994600-130995600	Flanking Active TSS	Liver	Liver
5	chr4:130995200-130995600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:130995200-130995600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:130995200-130995600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:130995200-130995600	Enhancers	Gastric	stomach
9	chr4:130995200-130995600	Enhancers	Pancreas	Pancrea
10	chr4:130995200-130996000	Enhancers	Fetal Intestine Small	intestine
11	chr4:130995200-130998000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr4:130995400-130995600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr4:130995400-130995600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:130995400-130996000	Enhancers	Stomach Mucosa	stomach
15	chr4:130995400-130999400	Weak transcription	hESC Derived CD184+ Endoderm 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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