Variant report

Variant	rs34383976
Chromosome Location	chr2:66945568-66945569
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1014299	0.81[EUR][1000 genomes]
rs6717380	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6720542	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6745491	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7557679	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834248	chr2:66756873-66970378	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012523	chr2:66919704-66961372	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv582169	chr2:66936494-66959919	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:66942800-66945600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:66944400-66945600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:66944600-66945600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:66944800-66945600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:66944800-66945600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:66944800-66945600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:66945000-66945600	Enhancers	Primary hematopoietic stem cells	blood
8	chr2:66945200-66947000	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:66945400-66945600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:66945400-66950800	Weak transcription	Fetal Stomach	stomach
11	chr2:66945400-66951000	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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