Variant report

Variant	rs3826248
Chromosome Location	chr16:71373048-71373049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1345890	0.88[GIH][hapmap]
rs1465463	0.88[GIH][hapmap]
rs4788793	0.80[EUR][1000 genomes]
rs889704	0.85[GIH][hapmap];0.83[TSI][hapmap]
rs918754	0.80[EUR][1000 genomes]
rs918756	0.80[EUR][1000 genomes]
rs918757	0.94[GIH][hapmap];0.87[TSI][hapmap]
rs9940507	0.82[JPT][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3826248	HYDIN	cis	parietal	SCAN

Chromatin state (count:10 , 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	chr16:71371600-71373600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr16:71371600-71374000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr16:71371600-71374600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr16:71371800-71373200	Enhancers	HepG2	liver
7	chr16:71371800-71373600	Enhancers	A549	lung
8	chr16:71372400-71373800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr16:71372800-71373200	Flanking Active TSS	Hela-S3	cervix
10	chr16:71373000-71373400	Enhancers	Placenta Amnion	Placenta Amnion

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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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