Variant report

Variant	rs1424141
Chromosome Location	chr16:71372166-71372167
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1007634	0.90[EUR][1000 genomes]
rs12919927	0.83[ASN][1000 genomes]
rs12933065	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs713532	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7201920	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8049333	0.83[ASN][1000 genomes]
rs8054321	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv482374	chr16:71228600-71401617	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1062426	chr16:71307180-71423400	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv572949	chr16:71352071-71426563	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr16:71371400-71374400	Enhancers	HMEC	breast
2	chr16:71371400-71374400	Enhancers	NHEK	skin
3	chr16:71371600-71372200	Enhancers	Esophagus	oesophagus
4	chr16:71371600-71372400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr16:71371600-71372800	Enhancers	Hela-S3	cervix
6	chr16:71371600-71373600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr16:71371600-71374000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr16:71371600-71374600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr16:71371800-71372200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr16:71371800-71372400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr16:71371800-71372400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr16:71371800-71373200	Enhancers	HepG2	liver
13	chr16:71371800-71373600	Enhancers	A549	lung
14	chr16:71372000-71372400	Enhancers	HUVEC	blood vessel

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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