Variant report

Variant	rs59971648
Chromosome Location	chr4:122698262-122698263
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12644087	1.00[AMR][1000 genomes]
rs3217760	1.00[AMR][1000 genomes]
rs3217782	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3805159	1.00[AMR][1000 genomes]
rs4077755	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41462746	1.00[AMR][1000 genomes]
rs4256243	1.00[AMR][1000 genomes]
rs57880593	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58062096	1.00[AMR][1000 genomes]
rs59323263	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60712265	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61097039	1.00[AMR][1000 genomes]
rs61300303	1.00[AMR][1000 genomes]
rs72919937	1.00[AMR][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	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv461635	chr4:122633535-122720999	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv595357	chr4:122633535-122720999	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122695400-122705800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:122695600-122698800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:122697400-122699600	Enhancers	GM12878-XiMat	blood
4	chr4:122697600-122705600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:122697800-122698400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:122697800-122700600	Enhancers	NHDF-Ad	bronchial
7	chr4:122697800-122701400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr4:122698000-122700800	Enhancers	HSMM	muscle
9	chr4:122698200-122698400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:122698200-122699000	Enhancers	Fetal Muscle Leg	muscle
11	chr4:122698200-122699200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:122698200-122702000	Enhancers	Fetal Heart	heart

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links