Variant report

Variant	rs17024111
Chromosome Location	chr2:39866505-39866506
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10187157	1.00[EUR][1000 genomes]
rs17024114	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17024117	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17024328	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4670961	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs56656371	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58032747	1.00[EUR][1000 genomes]
rs72934275	1.00[EUR][1000 genomes]
rs72934277	1.00[EUR][1000 genomes]
rs7606706	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7606718	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873889	chr2:39830183-39950482	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv833870	chr2:39837022-40026024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr2:39860000-39869400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:39860400-39868800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:39860400-39869200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:39860600-39869000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:39860800-39868000	Weak transcription	HMEC	breast
6	chr2:39861000-39867400	Weak transcription	HSMMtube	muscle
7	chr2:39861000-39869200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:39863400-39874600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:39864000-39868600	Weak transcription	Adipose Nuclei	Adipose
10	chr2:39866200-39868200	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr2:39866200-39868600	Enhancers	Skeletal Muscle Male	skeletal muscle

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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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