Variant report

Variant	rs3906535
Chromosome Location	chr5:126944113-126944114
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10041400	1.00[CHB][hapmap]
rs13175595	1.00[CHB][hapmap]
rs1382330	1.00[CHB][hapmap]
rs3958853	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57415096	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59602591	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7722896	1.00[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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv830479	chr5:126849254-127053121	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv519906	chr5:126943293-126955918	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126939200-126944400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr5:126939400-126944400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr5:126939600-126944200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:126939600-126944400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:126940800-126944400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:126942200-126947800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:126943600-126944600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:126943600-126944600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:126943600-126944800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:126943600-126945000	Enhancers	HMEC	breast
11	chr5:126943600-126946200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:126943800-126944200	Enhancers	NHEK	skin

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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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