Variant report

Variant	rs17517959
Chromosome Location	chr1:221346974-221346975
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]
rs10779426	0.85[ASN][1000 genomes]
rs10863590	0.96[ASN][1000 genomes]
rs10863594	0.89[ASN][1000 genomes]
rs10863596	0.81[ASN][1000 genomes]
rs11581606	0.88[ASN][1000 genomes]
rs12032422	0.94[ASN][1000 genomes]
rs1417922	0.90[ASN][1000 genomes]
rs1539138	0.90[ASN][1000 genomes]
rs2039958	0.96[ASN][1000 genomes]
rs4484929	0.83[ASN][1000 genomes]
rs6541174	0.83[ASN][1000 genomes]
rs6686093	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs6693820	0.85[ASN][1000 genomes]
rs72742546	0.85[ASN][1000 genomes]
rs7527009	0.88[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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873199	chr1:221136672-221451217	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr1:221345400-221351000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:221346000-221347000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:221346000-221347200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:221346000-221347200	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr1:221346000-221348600	Enhancers	Primary hematopoietic stem cells	blood
6	chr1:221346000-221349000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:221346200-221347000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr1:221346400-221350800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr1:221346800-221348000	Weak transcription	Pancreas	Pancrea

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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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