Variant report

Variant	rs9995486
Chromosome Location	chr4:144405898-144405899
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10000941	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10008867	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10084783	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11725272	0.83[ASN][1000 genomes]
rs11735967	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11933502	1.00[JPT][hapmap]
rs13114896	1.00[JPT][hapmap]
rs1397529	1.00[JPT][hapmap]
rs1397530	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28925939	0.83[ASN][1000 genomes]
rs3795246	1.00[JPT][hapmap]
rs6837153	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7696619	1.00[JPT][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	esv2757960	chr4:144348293-145131592	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	esv2759288	chr4:144348293-145131592	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv830103	chr4:144393398-144553045	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1025212	chr4:144402841-144523938	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144376800-144410000	Weak transcription	Pancreas	Pancrea
2	chr4:144382800-144410200	Weak transcription	Gastric	stomach
3	chr4:144384200-144409800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:144392200-144406000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:144393600-144409200	Weak transcription	Placenta	Placenta
6	chr4:144397400-144410400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:144399000-144406000	Weak transcription	Fetal Lung	lung
8	chr4:144403200-144409800	Weak transcription	Brain Substantia Nigra	brain
9	chr4:144405800-144406200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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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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