Variant report

Variant	rs13238406
Chromosome Location	chr7:152451444-152451445
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10276445	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap]
rs12540161	0.98[ASN][1000 genomes]
rs1568734	0.90[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]
rs2948929	0.85[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap]
rs3864523	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4428589	0.90[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4726206	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4726208	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs4726215	0.84[MEX][hapmap]
rs73166479	0.97[ASN][1000 genomes]
rs73166481	0.98[ASN][1000 genomes]
rs7801883	0.81[EUR][1000 genomes]
rs940262	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap]
rs9986710	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949483	chr7:151791158-152499822	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1021495	chr7:152032655-152458249	Genic enhancers Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv539207	chr7:152032655-152458249	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv1033496	chr7:152125903-152615617	Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv539208	chr7:152125903-152615617	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv1017565	chr7:152147930-152455272	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	nsv1027100	chr7:152294734-152935140	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv831193	chr7:152353544-152592678	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	nsv532221	chr7:152371297-152884547	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv868873	chr7:152371297-152900113	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13238406	ABCB8	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152434000-152456200	Weak transcription	Right Atrium	heart
2	chr7:152449200-152452800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:152449800-152456200	Weak transcription	Fetal Brain Female	brain
4	chr7:152451000-152452200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr7:152451000-152452400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:152451200-152452200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:152451200-152452400	Enhancers	Brain Germinal Matrix	brain
8	chr7:152451200-152453200	Enhancers	Fetal Brain Male	brain
9	chr7:152451400-152451800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:152451400-152451800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:152451400-152451800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links