Variant report

Variant	rs17026170
Chromosome Location	chr1:216314566-216314567
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:216312061..216313973-chr1:216314332..216316595,2	K562	blood:
2	chr1:216308823..216311948-chr1:216312152..216315770,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10495017	1.00[CEU][hapmap];0.93[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10495018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11120739	0.88[CHB][hapmap]
rs1115436	0.93[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12561852	0.90[ASN][1000 genomes]
rs17026130	1.00[CEU][hapmap]
rs17026145	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17026164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17026167	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17026174	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17026175	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17026208	0.87[CHB][hapmap];0.83[CHD][hapmap]
rs17026219	0.88[CHB][hapmap]
rs301735	0.89[ASN][1000 genomes]
rs301736	0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs301737	0.93[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs301739	0.89[ASN][1000 genomes]
rs301742	0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs301744	0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs301745	0.93[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs301759	0.81[CHB][hapmap]
rs301760	0.82[CHB][hapmap]
rs430652	0.93[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs487739	0.89[ASN][1000 genomes]
rs594719	0.89[ASN][1000 genomes]
rs643416	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[ASN][1000 genomes]
rs677648	0.82[CHB][hapmap]
rs9660965	0.88[CHB][hapmap]
rs9661602	0.88[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006504	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv535288	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv873176	chr1:216249570-216363137	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv999211	chr1:216268796-216329336	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1006028	chr1:216268796-216432545	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216312200-216315000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
2	chr1:216313200-216314600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:216313800-216315000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:216313800-216315000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:216314000-216314800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:216314000-216314800	Enhancers	Fetal Muscle Leg	muscle
7	chr1:216314000-216315000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:216314000-216315000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr1:216314000-216315200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:216314000-216315200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:216314000-216316800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr1:216314000-216317800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:216314200-216315000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:216314400-216314800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr1:216314400-216315000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr1:216314400-216318000	Weak transcription	Fetal Lung	lung

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