Variant report

Variant	rs17467046
Chromosome Location	chr12:40799576-40799577
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17443546	0.89[CHB][hapmap]
rs17444075	0.91[CHB][hapmap]
rs17445098	0.91[CHB][hapmap]
rs17466009	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs17466227	0.91[CHB][hapmap]
rs17466444	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs17484093	0.80[CHB][hapmap]
rs17490692	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs17490928	0.91[CHB][hapmap]
rs17492173	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs28365208	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs28365241	0.91[CHB][hapmap];0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832377	chr12:40704881-40855223	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv899032	chr12:40735939-40827479	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv558598	chr12:40742363-40828264	Strong transcription Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1047639	chr12:40774370-40804386	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv558599	chr12:40790698-40814452	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv983242	chr12:40797402-40802980	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40799000-40799800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr12:40799200-40799600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:40799200-40799600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:40799200-40799600	Enhancers	H9 Cell Line	embryonic stem cell
5	chr12:40799400-40799800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr12:40799400-40799800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:40799400-40800200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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