Variant report

Variant	rs60927625
Chromosome Location	chr17:53544424-53544425
allele	A/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]
rs35229301	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73318284	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73318288	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73318300	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8072554	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][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	nsv2100	chr17:53492380-54328516	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1062337	chr17:53510996-54161442	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:53542400-53545200	Enhancers	Duodenum Mucosa	Duodenum
2	chr17:53543000-53544600	Enhancers	Adipose Nuclei	Adipose
3	chr17:53543600-53544600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr17:53543600-53545200	Enhancers	Fetal Intestine Large	intestine
5	chr17:53543800-53544600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:53543800-53544600	Enhancers	H9 Cell Line	embryonic stem cell
7	chr17:53543800-53544600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr17:53543800-53544600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr17:53543800-53544600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr17:53543800-53544600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr17:53543800-53544600	Enhancers	HepG2	liver
12	chr17:53544000-53544600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr17:53544000-53544600	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr17:53544000-53544600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr17:53544000-53544600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr17:53544000-53544600	Enhancers	Fetal Kidney	kidney
17	chr17:53544000-53544600	Enhancers	Fetal Lung	lung
18	chr17:53544200-53544600	Enhancers	Colon Smooth Muscle	Colon
19	chr17:53544200-53544600	ZNF genes & repeats	GM12878-XiMat	blood
20	chr17:53544400-53544600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr17:53544400-53544600	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr17:53544400-53544600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr17:53544400-53544600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
24	chr17:53544400-53544600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr17:53544400-53544600	Enhancers	Brain Substantia Nigra	brain
26	chr17:53544400-53545400	Enhancers	Fetal Intestine Small	intestine
27	chr17:53544400-53550000	Weak transcription	Placenta	Placenta

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