Variant report

Variant	rs6693594
Chromosome Location	chr1:196495566-196495567
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2878551	0.87[CEU][hapmap];0.83[TSI][hapmap]
rs3753394	0.96[CEU][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	nsv931415	chr1:196270759-196744780	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1009233	chr1:196301712-196568874	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 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	chr1:196480800-196504800	Weak transcription	Liver	Liver
2	chr1:196490200-196496000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:196492200-196504800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:196492400-196504200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:196492400-196504800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:196493200-196502400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:196493600-196504000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:196495000-196500800	Weak transcription	Fetal Lung	lung

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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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