Variant report

Variant	rs12495226
Chromosome Location	chr3:60562113-60562114
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10510849	1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10510850	0.81[CHB][hapmap];0.97[GIH][hapmap];0.81[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11130775	0.84[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs11130776	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12054041	0.95[ASN][1000 genomes]
rs12487370	0.85[GIH][hapmap];0.86[MEX][hapmap]
rs12491463	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12494672	0.95[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17063517	0.85[GIH][hapmap]
rs2301156	0.88[GIH][hapmap]
rs28448293	0.86[ASN][1000 genomes]
rs72885798	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73834244	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[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	nsv529602	chr3:60088353-60830769	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv998815	chr3:60495872-60830769	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv999828	chr3:60537384-60785274	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60555400-60573600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:60558800-60562200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr3:60559600-60565200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:60559800-60564600	Weak transcription	NHEK	skin
5	chr3:60559800-60564800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:60560000-60564600	Weak transcription	HMEC	breast
7	chr3:60560000-60564800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:60560200-60564800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:60560200-60565400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr3:60560400-60564800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:60561600-60562400	Enhancers	H9 Cell Line	embryonic stem cell
12	chr3:60561600-60562400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:60561800-60565400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:60561800-60566400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr3:60561800-60567800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr3:60561800-60573400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:60562000-60562200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:60562000-60567600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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