Variant report

Variant	rs17007491
Chromosome Location	chr1:220500791-220500792
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10779403	0.95[ASN][1000 genomes]
rs11118517	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.95[ASN][1000 genomes]
rs11118519	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12411005	0.81[ASN][1000 genomes]
rs1567602	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17007362	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17007517	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2048481	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4846621	0.88[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs61830864	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61830865	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61832262	0.92[ASN][1000 genomes]
rs6541128	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.95[ASN][1000 genomes]
rs6541130	0.94[CHB][hapmap];0.96[CHD][hapmap];0.86[JPT][hapmap];0.83[TSI][hapmap];0.95[ASN][1000 genomes]
rs72730665	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7529864	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7554794	0.95[ASN][1000 genomes]
rs9793772	0.95[ASN][1000 genomes]

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	nsv1001681	chr1:220425057-220548325	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535298	chr1:220425057-220548325	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv523114	chr1:220486349-220500958	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1006979	chr1:220488188-220501518	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220498800-220503000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:220499000-220501600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:220499000-220502600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:220499000-220509400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:220499800-220500800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:220500000-220501800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:220500000-220502600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:220500200-220502800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:220500600-220500800	Enhancers	Esophagus	oesophagus
10	chr1:220500600-220510800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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

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