Variant report

Variant	rs9999041
Chromosome Location	chr4:55871814-55871815
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10021281	0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10471218	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28418957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28460101	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28690930	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28820633	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58592141	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6811792	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6813048	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6829974	1.00[CHB][hapmap]
rs73816902	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9631802	0.80[AFR][1000 genomes]
rs9994473	0.83[AMR][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	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv948758	chr4:55748430-55887962	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv829939	chr4:55856771-56005011	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats 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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55870000-55872800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr4:55870600-55872000	Enhancers	Adipose Nuclei	Adipose
3	chr4:55870600-55872000	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr4:55870800-55877400	Weak transcription	Fetal Lung	lung
5	chr4:55871200-55872600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr4:55871200-55872600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr4:55871200-55875200	Weak transcription	Right Atrium	heart
8	chr4:55871400-55872400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:55871400-55872600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:55871400-55875200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:55871600-55872000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:55871600-55872000	Weak transcription	Lung	lung
13	chr4:55871800-55873600	Weak transcription	HUVEC	blood vessel

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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