Variant report

Variant	rs10494531
Chromosome Location	chr1:180562366-180562367
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12073348	0.83[ASN][1000 genomes]
rs12077656	1.00[CHB][hapmap]
rs12723609	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12729441	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12735662	1.00[ASN][1000 genomes]
rs12754682	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16856420	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs17301118	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17301132	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17373022	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[MKK][hapmap];1.00[ASN][1000 genomes]
rs17373133	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3845400	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3845401	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6663339	1.00[CHB][hapmap];1.00[MKK][hapmap];1.00[ASN][1000 genomes]
rs72720941	1.00[ASN][1000 genomes]
rs72720943	1.00[ASN][1000 genomes]
rs72720953	1.00[ASN][1000 genomes]
rs72720958	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180559200-180564200	Weak transcription	Right Atrium	heart
2	chr1:180561600-180562400	Enhancers	Left Ventricle	heart
3	chr1:180561600-180564800	Enhancers	Pancreas	Pancrea
4	chr1:180561800-180562400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:180561800-180562800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:180562000-180564800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:180562200-180562400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:180562200-180562600	Enhancers	Brain Germinal Matrix	brain
9	chr1:180562200-180562800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:180562200-180562800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:180562200-180564000	Enhancers	K562	blood
12	chr1:180562200-180564600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:180562200-180564800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr1:180562200-180565000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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