Variant report

Variant	rs17517039
Chromosome Location	chr7:14049867-14049868
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:14027263..14030675-chr7:14047798..14051480,3	K562	blood:

Variant related genes	Relation type
ENSG00000006468	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10262408	0.95[AMR][1000 genomes]
rs10262900	0.95[AMR][1000 genomes]
rs10270149	1.00[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes]
rs11978520	0.82[CHB][hapmap];0.82[AMR][1000 genomes]
rs12535946	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12537436	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538431	0.81[JPT][hapmap]
rs12539144	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2190067	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55996062	0.86[AFR][1000 genomes]
rs58711075	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59046742	0.89[EUR][1000 genomes]
rs59264572	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs60732622	0.89[EUR][1000 genomes]
rs60892030	0.89[EUR][1000 genomes]
rs6971464	0.82[CHB][hapmap];0.92[YRI][hapmap];0.86[AMR][1000 genomes]
rs6975999	1.00[CHB][hapmap];0.81[JPT][hapmap];0.92[YRI][hapmap];0.90[AMR][1000 genomes]
rs73679253	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73679254	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73679255	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73679259	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73679269	0.89[EUR][1000 genomes]
rs73679271	0.89[EUR][1000 genomes]
rs73679272	0.89[EUR][1000 genomes]
rs73679274	0.89[EUR][1000 genomes]
rs7785120	0.82[CHB][hapmap]
rs7788676	1.00[ASN][1000 genomes]
rs7803279	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][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	nsv1019873	chr7:13707148-14133367	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv887698	chr7:13841798-14056075	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv949467	chr7:13938464-14279074	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1030645	chr7:14015533-14078153	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv538739	chr7:14015533-14078153	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14048800-14050000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:14049000-14050200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr7:14049200-14050200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr7:14049400-14051200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:14049400-14051200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:14049600-14050000	Active TSS	Primary T cells fromperipheralblood	blood
7	chr7:14049800-14050200	Active TSS	K562	blood

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