Variant report

Variant	rs1340769
Chromosome Location	chr1:70219936-70219937
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:6)

rs_ID	r²[population]
rs1071873	0.85[YRI][hapmap]
rs1340771	0.81[TSI][hapmap]
rs1361493	0.81[LWK][hapmap];0.83[MKK][hapmap];0.80[YRI][hapmap]
rs4650307	0.84[YRI][hapmap]
rs765795	0.92[MKK][hapmap];0.81[YRI][hapmap]
rs969051	0.82[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949691	chr1:69749722-70302201	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3384194	chr1:69885024-70275430	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr1:70214200-70233400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:70218400-70223000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:70218600-70220000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:70219000-70220000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:70219800-70220200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:70219800-70220200	Enhancers	Brain Anterior Caudate	brain
7	chr1:70219800-70220400	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr1:70219800-70220400	Enhancers	Brain Substantia Nigra	brain
9	chr1:70219800-70245200	Weak transcription	Fetal Brain Female	brain

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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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