Variant report

Variant	rs2193478
Chromosome Location	chr2:56414481-56414482
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1159916	0.88[CHB][hapmap]
rs12620171	0.91[EUR][1000 genomes]
rs17190072	0.89[CHB][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17268702	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs1814277	0.80[CEU][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1989447	0.90[AFR][1000 genomes]
rs2216326	0.93[ASN][1000 genomes]
rs4140787	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4671277	0.90[CEU][hapmap];0.91[EUR][1000 genomes]
rs4672097	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4672098	1.00[CEU][hapmap];0.93[CHB][hapmap];0.91[EUR][1000 genomes]
rs4672099	0.95[CEU][hapmap];0.93[CHB][hapmap];0.92[EUR][1000 genomes]
rs56399326	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6754349	0.82[CEU][hapmap];0.89[CHB][hapmap];0.87[EUR][1000 genomes]
rs72801175	0.86[ASN][1000 genomes]
rs8179803	0.86[CEU][hapmap];0.84[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	esv2757799	chr2:56178439-56472394	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	esv2759051	chr2:56178439-56472394	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	nsv874162	chr2:56255832-56480571	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv874169	chr2:56383762-56473480	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv2762648	chr2:56386656-56422448	Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr2:56413200-56419600	Weak transcription	Placenta	Placenta
2	chr2:56413200-56419800	Weak transcription	Right Ventricle	heart
3	chr2:56413400-56416200	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:56413400-56419000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:56413400-56419600	Weak transcription	Left Ventricle	heart
6	chr2:56413600-56415600	Enhancers	HUVEC	blood vessel
7	chr2:56413600-56421800	Weak transcription	Psoas Muscle	Psoas
8	chr2:56414000-56414600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr2:56414000-56415200	Enhancers	Adipose Nuclei	Adipose
10	chr2:56414000-56434000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:56414200-56414800	Enhancers	Fetal Brain Female	brain
12	chr2:56414200-56418000	Weak transcription	HSMM	muscle
13	chr2:56414200-56419800	Weak transcription	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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