Variant report

Variant	rs13116658
Chromosome Location	chr4:95811997-95811998
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:16)

rs_ID	r²[population]
rs12508087	0.81[YRI][hapmap]
rs13123639	0.95[YRI][hapmap]
rs13139748	0.83[YRI][hapmap]
rs13144015	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1373649	0.82[CHB][hapmap]
rs17022123	0.86[YRI][hapmap]
rs17022377	0.94[YRI][hapmap]
rs28433320	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3775006	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3775007	0.94[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775026	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs41420348	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4456963	0.87[YRI][hapmap]
rs62316211	1.00[ASN][1000 genomes]
rs6849425	0.94[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7673420	0.88[YRI][hapmap]

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	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1005816	chr4:95573444-95902704	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95804000-95813200	Weak transcription	A549	lung
2	chr4:95810400-95813600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:95811000-95833600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:95811200-95815200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr4:95811200-95815400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr4:95811200-95817800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr4:95811200-95824800	Weak transcription	Aorta	Aorta
8	chr4:95811400-95813400	Weak transcription	NHEK	skin
9	chr4:95811400-95814000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr4:95811400-95815200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:95811600-95812000	ZNF genes & repeats	Fetal Muscle Leg	muscle
12	chr4:95811600-95818200	Weak transcription	NH-A	brain
13	chr4:95811800-95812200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
14	chr4:95811800-95812400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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