Variant report

Variant	rs2250385
Chromosome Location	chr11:108755169-108755170
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17108652	1.00[AMR][1000 genomes]
rs2553759	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60625914	1.00[AMR][1000 genomes]
rs60861863	1.00[AMR][1000 genomes]
rs7110445	1.00[AMR][1000 genomes]
rs7930190	1.00[AMR][1000 genomes]
rs7932521	1.00[AMR][1000 genomes]
rs7941789	1.00[AMR][1000 genomes]
rs7950532	1.00[AMR][1000 genomes]
rs898973	1.00[AMR][1000 genomes]
rs970163	1.00[AMR][1000 genomes]

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	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898389	chr11:108724639-108891986	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108726200-108768400	Weak transcription	Primary B cells from peripheral blood	blood
2	chr11:108728400-108810600	Weak transcription	Left Ventricle	heart
3	chr11:108741800-108756600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:108746400-108757000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:108750800-108756400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:108751600-108756600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:108752200-108755400	Weak transcription	NH-A	brain
8	chr11:108752400-108757200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:108753200-108761000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:108754600-108757200	Enhancers	A549	lung
11	chr11:108754600-108758400	Weak transcription	Primary T cells from cord blood	blood
12	chr11:108754800-108755400	Enhancers	HSMM	muscle
13	chr11:108754800-108756800	Weak transcription	Osteobl	bone
14	chr11:108755000-108755200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:108755000-108759200	Enhancers	HUVEC	blood vessel

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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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