Variant report

Variant	rs41381548
Chromosome Location	chr5:147941428-147941429
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10036018	1.00[EUR][1000 genomes]
rs10038033	1.00[EUR][1000 genomes]
rs10038886	1.00[EUR][1000 genomes]
rs10053544	1.00[EUR][1000 genomes]
rs10055423	1.00[EUR][1000 genomes]
rs10072157	1.00[EUR][1000 genomes]
rs10077951	1.00[EUR][1000 genomes]
rs10078988	1.00[EUR][1000 genomes]
rs10079055	1.00[EUR][1000 genomes]
rs11958205	1.00[EUR][1000 genomes]
rs13358515	1.00[EUR][1000 genomes]
rs13360245	1.00[EUR][1000 genomes]
rs13360714	1.00[EUR][1000 genomes]
rs13362580	1.00[EUR][1000 genomes]
rs28385348	1.00[EUR][1000 genomes]
rs6580574	1.00[EUR][1000 genomes]
rs6864773	1.00[EUR][1000 genomes]
rs6867121	1.00[EUR][1000 genomes]
rs6871631	1.00[EUR][1000 genomes]
rs6878503	1.00[EUR][1000 genomes]
rs6879119	1.00[EUR][1000 genomes]
rs6883576	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6884542	1.00[EUR][1000 genomes]
rs6891709	1.00[EUR][1000 genomes]
rs73266460	1.00[EUR][1000 genomes]
rs764416	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7704797	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7720203	1.00[EUR][1000 genomes]
rs9325099	1.00[EUR][1000 genomes]
rs9325100	1.00[EUR][1000 genomes]
rs9885585	1.00[EUR][1000 genomes]
rs989875	1.00[EUR][1000 genomes]
rs989876	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830516	chr5:147801104-147966093	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1023832	chr5:147920935-148110926	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv537917	chr5:147920935-148110926	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr5:147937200-147942000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:147939400-147942600	Weak transcription	Pancreas	Pancrea
3	chr5:147940400-147942600	Enhancers	Rectal Smooth Muscle	rectum
4	chr5:147940600-147941800	Enhancers	Fetal Intestine Small	intestine
5	chr5:147940600-147942000	Enhancers	Fetal Intestine Large	intestine
6	chr5:147940800-147942000	Enhancers	Liver	Liver
7	chr5:147940800-147942000	Enhancers	Small Intestine	intestine
8	chr5:147940800-147942200	Enhancers	Duodenum Mucosa	Duodenum
9	chr5:147940800-147942400	Enhancers	Fetal Stomach	stomach
10	chr5:147940800-147942800	Enhancers	Fetal Lung	lung
11	chr5:147941000-147942200	Enhancers	Colon Smooth Muscle	Colon
12	chr5:147941200-147941600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr5:147941200-147941800	Enhancers	HepG2	liver
14	chr5:147941400-147942200	Enhancers	Duodenum Smooth Muscle	Duodenum

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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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