Variant report

Variant	rs56982957
Chromosome Location	chr4:130283801-130283802
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12506624	0.93[EUR][1000 genomes]
rs12506696	0.93[EUR][1000 genomes]
rs12510624	0.90[EUR][1000 genomes]
rs1433378	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4540061	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55792344	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55875663	0.87[EUR][1000 genomes]
rs56108227	0.87[EUR][1000 genomes]
rs56265309	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56361313	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56690775	0.87[EUR][1000 genomes]
rs61070104	0.87[EUR][1000 genomes]
rs61455970	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61554187	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62309611	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62309616	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62317276	0.98[AMR][1000 genomes];0.95[EUR][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	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv830058	chr4:130136025-130315471	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3466206	chr4:130280102-130284500	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130277200-130284000	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:130277600-130284200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:130280400-130284000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:130280400-130284400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:130280400-130284600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:130280400-130284600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:130281600-130284400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:130283600-130284600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr4:130283600-130284800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:130283800-130284400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr4:130283800-130284400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr4:130283800-130284400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:130283800-130284400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr4:130283800-130284400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr4:130283800-130284600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr4:130283800-130284800	Enhancers	Dnd41	blood
17	chr4:130283800-130285200	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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