Variant report

Variant	rs4147861
Chromosome Location	chr1:94471948-94471949
allele	G/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:19)

rs_ID	r²[population]
rs10874828	0.90[JPT][hapmap]
rs10874829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11165062	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11165063	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12049183	0.87[EUR][1000 genomes]
rs17110808	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17391612	1.00[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2275029	0.87[CHD][hapmap]
rs2275031	0.87[CHD][hapmap]
rs3789391	1.00[CEU][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.92[TSI][hapmap];0.87[EUR][1000 genomes]
rs4147857	0.87[CHD][hapmap]
rs4147859	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4147862	0.87[CHD][hapmap]
rs4147863	0.87[CHD][hapmap]
rs4147866	0.89[ASN][1000 genomes]
rs55691342	0.88[ASN][1000 genomes]
rs55694362	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56166161	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7518454	0.83[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	nsv516137	chr1:94404238-94504545	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv933898	chr1:94471453-94472996	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv932856	chr1:94471515-94472996	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94458800-94477000	Weak transcription	Right Atrium	heart
2	chr1:94464000-94472200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:94468200-94476400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:94471000-94474800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:94471200-94476200	Weak transcription	Lung	lung
6	chr1:94471200-94480600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:94471800-94472400	Enhancers	Skeletal Muscle Female	skeletal muscle

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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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