Variant report

Variant	rs10495590
Chromosome Location	chr2:12215266-12215267
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12997170	0.83[ASN][1000 genomes]
rs3845756	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62113831	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7419959	0.91[EUR][1000 genomes];0.80[ASN][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	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv999704	chr2:12153766-12243960	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1005069	chr2:12161023-12242734	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1000696	chr2:12162843-12241022	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr2:12213000-12216400	Weak transcription	Primary B cells from cord blood	blood
2	chr2:12213600-12216000	Enhancers	Primary hematopoietic stem cells	blood
3	chr2:12213600-12218600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:12214000-12216200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:12214400-12215400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:12214400-12216400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr2:12214800-12216800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:12214800-12217400	Enhancers	GM12878-XiMat	blood
9	chr2:12215000-12215600	Enhancers	K562	blood
10	chr2:12215000-12216400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:12215000-12216400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:12215200-12216200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:12215200-12216400	Weak transcription	Brain Germinal Matrix	brain
14	chr2:12215200-12216600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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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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