Variant report

Variant	rs17042848
Chromosome Location	chr1:216734001-216734002
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10495030	1.00[CHB][hapmap];0.87[GIH][hapmap]
rs11117618	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11117629	0.88[GIH][hapmap];0.92[MEX][hapmap]
rs11117630	0.88[GIH][hapmap];0.91[MEX][hapmap]
rs11572723	0.82[GIH][hapmap]
rs11572745	0.88[GIH][hapmap];0.92[MEX][hapmap]
rs11572764	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11572766	1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[ASN][1000 genomes]
rs11572768	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11572775	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11577585	0.87[GIH][hapmap]
rs17611906	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17668665	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17669321	1.00[CHB][hapmap]
rs1833039	0.88[GIH][hapmap];0.84[MEX][hapmap]
rs72735199	1.00[ASN][1000 genomes]
rs7520795	0.92[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[LWK][hapmap];0.92[MEX][hapmap];0.90[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549199	chr1:216384908-216814702	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1003815	chr1:216504235-216836498	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv535289	chr1:216504235-216836498	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv873178	chr1:216714314-216813244	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv4565	chr1:216720070-216765053	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216705400-216734800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:216708800-216744600	Weak transcription	Left Ventricle	heart
3	chr1:216721800-216774000	Weak transcription	Placenta	Placenta
4	chr1:216732800-216735800	Enhancers	Fetal Heart	heart
5	chr1:216733800-216734200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:216733800-216734400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:216733800-216734600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr1:216733800-216734800	Enhancers	Stomach Mucosa	stomach
9	chr1:216734000-216734400	Active TSS	Duodenum Mucosa	Duodenum
10	chr1:216734000-216734400	Active TSS	Right Ventricle	heart

Quick Search:

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

what's new

Quick links