Variant report

Variant	rs16951034
Chromosome Location	chr17:50221958-50221959
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11650738	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11655715	0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16951065	0.85[ASN][1000 genomes]
rs5010295	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492317	chr17:50067819-50774475	Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16951034	OR52A5	trans	cerebellum	SCAN
rs16951034	C17orf73	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:50216200-50222600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr17:50216400-50222000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr17:50219200-50222400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr17:50219200-50223000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr17:50219600-50222400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr17:50219800-50222200	Weak transcription	HMEC	breast
7	chr17:50221000-50223400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr17:50221000-50228200	Enhancers	NHEK	skin
9	chr17:50221400-50222200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr17:50221400-50222400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr17:50221600-50222600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr17:50221600-50224400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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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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