Variant report

Variant	rs235386
Chromosome Location	chr21:46151401-46151402
allele	A/G
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:18)

rs_ID	r²[population]
rs170965	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs170966	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs173094	0.80[ASN][1000 genomes]
rs173099	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs186847	0.89[ASN][1000 genomes]
rs186849	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2248350	1.00[YRI][hapmap]
rs235296	0.91[ASN][1000 genomes]
rs2838630	0.85[CHB][hapmap]
rs405117	0.89[ASN][1000 genomes]
rs584681	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs584779	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap]
rs647688	1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap]
rs690279	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap]
rs690621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap]
rs7283084	0.85[CHB][hapmap]
rs7283406	0.85[CHB][hapmap]
rs9637188	0.85[CHB][hapmap]

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	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 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	chr21:46143600-46151600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:46149600-46155400	Weak transcription	Right Atrium	heart
3	chr21:46150000-46152000	Bivalent Enhancer	HepG2	liver
4	chr21:46150800-46151600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr21:46150800-46151600	Bivalent Enhancer	K562	blood
6	chr21:46151000-46151600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr21:46151200-46153000	Weak transcription	Adipose Nuclei	Adipose
8	chr21:46151200-46153600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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