Variant report

Variant	rs12474045
Chromosome Location	chr2:10850311-10850312
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000236162	Chromatin interaction
ENSG00000243819	Chromatin interaction
ENSG00000115761	Chromatin interaction
ENSG00000143870	Chromatin interaction
ENSG00000143882	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11902307	1.00[AMR][1000 genomes]
rs13016786	1.00[AMR][1000 genomes]
rs2029430	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4233886	0.89[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61737663	1.00[AMR][1000 genomes]
rs6432136	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6432137	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6757870	0.84[AFR][1000 genomes]
rs7602222	0.83[AFR][1000 genomes]
rs9287722	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv833381	chr2:10723465-10911284	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10850000-10851400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr2:10850000-10851400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:10850000-10852400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:10850000-10852400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:10850000-10852400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:10850000-10852400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:10850000-10852400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:10850000-10852600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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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

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