Variant report

Variant	rs7222318
Chromosome Location	chr17:17274240-17274241
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10521328	1.00[ASN][1000 genomes]
rs16961593	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs16961599	0.85[ASN][1000 genomes]
rs242251	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs242252	0.85[ASN][1000 genomes]
rs6502581	1.00[CHB][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6502582	1.00[ASN][1000 genomes]
rs6502583	1.00[ASN][1000 genomes]
rs7210856	1.00[ASN][1000 genomes]
rs7216091	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7223820	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73981909	0.85[ASN][1000 genomes]
rs73981911	0.92[ASN][1000 genomes]
rs8075306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs955893	1.00[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	nsv833382	chr17:17124329-17305683	Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1061186	chr17:17200427-17314406	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
3	esv275128	chr17:17269758-17275754	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	2 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	chr17:17267800-17279400	Weak transcription	Right Ventricle	heart
2	chr17:17270400-17278800	Weak transcription	Right Atrium	heart
3	chr17:17272800-17275200	Enhancers	Fetal Intestine Large	intestine
4	chr17:17273400-17274600	Weak transcription	Fetal Intestine Small	intestine
5	chr17:17273600-17279400	Weak transcription	Osteobl	bone
6	chr17:17274200-17274400	Flanking Active TSS	HepG2	liver
7	chr17:17274200-17275000	Weak transcription	Fetal Thymus	thymus
8	chr17:17274200-17275200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr17:17274200-17282200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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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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