Variant report

Variant	rs12601095
Chromosome Location	chr17:66658234-66658235
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11653150	0.91[EUR][1000 genomes]
rs12051776	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16973193	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs887281	0.91[EUR][1000 genomes]
rs9899388	0.93[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	nsv833524	chr17:66524030-66705194	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv521432	chr17:66652594-66660827	Active TSS Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66656000-66659200	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr17:66656000-66661600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr17:66656200-66659200	Enhancers	Liver	Liver
4	chr17:66656800-66658800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr17:66657000-66659200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr17:66657200-66659400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr17:66657200-66659400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr17:66657200-66659600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr17:66657400-66659000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr17:66657400-66659000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr17:66657400-66659200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr17:66657800-66658400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr17:66658000-66658600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr17:66658000-66659800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr17:66658200-66659000	Enhancers	HepG2	liver
16	chr17:66658200-66659600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr17:66658200-66661200	Weak transcription	Fetal Brain Male	brain

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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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