Variant report

Variant	rs8061894
Chromosome Location	chr16:71384884-71384885
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12933065	0.82[ASN][1000 genomes]
rs13333092	0.83[AFR][1000 genomes]
rs4788541	0.81[CHB][hapmap];0.90[GIH][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs7201920	0.82[ASN][1000 genomes]
rs8054321	0.89[CHD][hapmap];0.84[ASN][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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs8061894	C16orf86	cis	parietal	SCAN
rs8061894	CYB5B	cis	parietal	SCAN
rs8061894	HP	cis	parietal	SCAN
rs8061894	CTCF	cis	cerebellum	SCAN
rs8061894	CBFB	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71379000-71385200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr16:71379400-71385000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:71379600-71391400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr16:71384600-71385800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr16:71384800-71385200	Enhancers	Pancreas	Pancrea
6	chr16:71384800-71385800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:71384800-71385800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr16:71384800-71385800	Enhancers	Liver	Liver
9	chr16:71384800-71386000	Enhancers	NHEK	skin

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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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