Variant report

Variant	rs62454651
Chromosome Location	chr7:14050195-14050196
allele	A/T
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: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10950502	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11765313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11768508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11772231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11772295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154599	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16878042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17167684	1.00[AFR][1000 genomes]
rs17167722	1.00[AFR][1000 genomes]
rs17167735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17167741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17167742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17167773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17167791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17167826	1.00[AFR][1000 genomes]
rs17167847	1.00[AMR][1000 genomes]
rs62452784	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62452785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62452786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62452787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62452788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62452792	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62452794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62452795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62452797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62452798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62452801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62452805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62452829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62452831	1.00[AMR][1000 genomes]
rs62452832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62452833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62452846	1.00[AMR][1000 genomes]
rs62454609	1.00[AMR][1000 genomes]
rs62454612	1.00[AFR][1000 genomes]
rs62454614	1.00[AFR][1000 genomes]
rs62454616	1.00[AFR][1000 genomes]
rs62454617	1.00[AFR][1000 genomes]
rs62454618	1.00[AFR][1000 genomes]
rs62454619	1.00[AFR][1000 genomes]
rs62454620	1.00[AFR][1000 genomes]
rs62454644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62454645	1.00[AMR][1000 genomes]
rs62454649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73052213	1.00[AFR][1000 genomes]
rs73054156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73057914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73057927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73059926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73059973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7349970	1.00[AFR][1000 genomes];1.00[AMR][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:6 , 50 per page) page: 1

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

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