Variant report

Variant	rs12909131
Chromosome Location	chr15:50387678-50387679
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10519257	1.00[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.92[TSI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11638799	1.00[ASW][hapmap]
rs12050709	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs12902530	0.90[EUR][1000 genomes]
rs12903325	0.84[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs12904370	1.00[ASW][hapmap]
rs12905011	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28369108	0.89[EUR][1000 genomes]
rs34970637	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41362650	1.00[ASW][hapmap];0.89[CEU][hapmap];0.80[CHD][hapmap];1.00[GIH][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs6493402	0.86[GIH][hapmap]
rs68191015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7170947	0.93[CHB][hapmap];0.94[CHD][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs7172615	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs7177318	0.86[GIH][hapmap]

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	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1035983	chr15:50223334-50595170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv542382	chr15:50223334-50595170	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv569395	chr15:50345393-50437494	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50381000-50387800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr15:50382400-50388200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr15:50383200-50388400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr15:50386200-50387800	Strong transcription	Primary hematopoietic stem cells	blood
5	chr15:50386400-50388000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:50386400-50388200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr15:50387000-50387800	Genic enhancers	Monocytes-CD14+_RO01746	blood
8	chr15:50387200-50391200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr15:50387400-50390200	Enhancers	Primary monocytes fromperipheralblood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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