Variant report

Variant	rs171923
Chromosome Location	chr5:61249961-61249962
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1020387	0.91[EUR][1000 genomes]
rs1374005	0.90[EUR][1000 genomes]
rs1374007	0.88[EUR][1000 genomes]
rs1374008	0.89[EUR][1000 genomes]
rs174524	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1838716	0.91[EUR][1000 genomes]
rs196661	1.00[ASN][1000 genomes]
rs263663	1.00[ASN][1000 genomes]
rs263664	0.82[EUR][1000 genomes]
rs263665	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7726480	0.91[EUR][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	nsv1020693	chr5:61098865-61357032	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv881723	chr5:61183375-61311715	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 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	chr5:61244600-61253000	Weak transcription	Pancreas	Pancrea
2	chr5:61249200-61250800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:61249600-61250200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr5:61249600-61250400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:61249600-61250400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:61249600-61250600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr5:61249600-61250600	Enhancers	NHEK	skin
8	chr5:61249800-61250200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr5:61249800-61250200	Enhancers	H9 Cell Line	embryonic stem cell
10	chr5:61249800-61250200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:61249800-61250200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr5:61249800-61250400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:61249800-61250600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr5:61249800-61250600	Enhancers	HMEC	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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