Variant report

Variant	rs1242482
Chromosome Location	chr17:17352341-17352342
allele	G/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:16)

rs_ID	r²[population]
rs1123297	0.95[LWK][hapmap];0.84[YRI][hapmap]
rs11869417	0.87[CEU][hapmap]
rs11869428	0.88[CEU][hapmap]
rs1242477	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1242478	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1242479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1242480	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1242481	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1242484	0.87[GIH][hapmap];0.85[EUR][1000 genomes]
rs1242485	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1242486	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1242487	0.84[ASN][1000 genomes]
rs1242488	0.88[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1242509	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs16961730	0.82[CEU][hapmap]
rs2694924	0.83[ASN][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	nsv482648	chr17:17315268-17455442	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1065710	chr17:17328111-17391443	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv907729	chr17:17338536-17425279	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised 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 miRNA target site	21 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	chr17:17344800-17353400	Weak transcription	Brain Germinal Matrix	brain
2	chr17:17349600-17363200	Weak transcription	Right Atrium	heart
3	chr17:17350400-17353800	Weak transcription	Fetal Muscle Leg	muscle
4	chr17:17350400-17363400	Weak transcription	Gastric	stomach
5	chr17:17351000-17353000	Enhancers	HepG2	liver
6	chr17:17351200-17354400	Weak transcription	A549	lung
7	chr17:17351400-17353600	Weak transcription	Spleen	Spleen
8	chr17:17351400-17353800	Weak transcription	Adipose Nuclei	Adipose
9	chr17:17351400-17354400	Weak transcription	Fetal Thymus	thymus
10	chr17:17351600-17354000	Weak transcription	Hela-S3	cervix
11	chr17:17352200-17352400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr17:17352200-17352400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr17:17352200-17352400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr17:17352200-17352400	Enhancers	Sigmoid Colon	Sigmoid Colon

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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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