Variant report

Variant	rs2837256
Chromosome Location	chr21:41222594-41222595
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16998673	1.00[EUR][1000 genomes]
rs60241529	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73369229	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73371208	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73371212	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73371218	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73371260	1.00[EUR][1000 genomes]
rs73371261	1.00[EUR][1000 genomes]
rs8127672	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1057956	chr21:40907707-41393396	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv544444	chr21:40907707-41393396	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1065086	chr21:41034806-41429078	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv544445	chr21:41034806-41429078	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41213400-41222800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr21:41213600-41223600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:41218400-41222800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr21:41220200-41223400	Weak transcription	Pancreas	Pancrea
5	chr21:41220200-41223600	Weak transcription	Gastric	stomach
6	chr21:41221200-41224000	Enhancers	Fetal Muscle Leg	muscle
7	chr21:41221800-41224800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr21:41222000-41225000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr21:41222000-41232400	Weak transcription	Right Ventricle	heart
10	chr21:41222200-41223800	Enhancers	Fetal Muscle Trunk	muscle
11	chr21:41222400-41223200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr21:41222400-41223800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr21:41222400-41223800	Enhancers	Fetal Brain Male	brain

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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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