Variant report

Variant	rs17649310
Chromosome Location	chr6:70995286-70995287
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	chr6:70989625..70992250-chr6:70995028..70997338,2	K562	blood:
2	chr6:70991484..70995327-chr6:71011821..71017351,5	K562	blood:

Variant related genes	Relation type
ENSG00000112280	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1321061	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs1406844	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1406845	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs16868971	0.81[EUR][1000 genomes]
rs16868977	0.81[EUR][1000 genomes]
rs3793075	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs3806104	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs3806105	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs3806106	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs3828782	0.81[EUR][1000 genomes]
rs72927399	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9294862	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs9446217	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs9446219	1.00[CEU][hapmap]
rs9455020	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs9455022	0.81[EUR][1000 genomes]
rs9455024	0.81[EUR][1000 genomes]
rs9455026	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs9455027	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs9455031	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs9455033	0.81[EUR][1000 genomes]

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	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv886142	chr6:70741209-71251421	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70993400-70996200	Weak transcription	Fetal Brain Male	brain
2	chr6:70994200-70995400	Enhancers	Fetal Brain Female	brain

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