Variant report

Variant	rs7259136
Chromosome Location	chr19:40600681-40600682
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40593483..40595649-chr19:40598012..40600965,2	K562	blood:
2	chr19:40595751..40597908-chr19:40599874..40602107,2	K562	blood:
3	chr19:40598367..40600693-chr19:40603198..40605174,2	K562	blood:

Variant related genes	Relation type
ENSG00000269296	Chromatin interaction
ENSG00000197782	Chromatin interaction
ENSG00000269749	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10414087	1.00[ASN][1000 genomes]
rs10418532	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10421829	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10424773	1.00[ASN][1000 genomes]
rs11881677	1.00[ASN][1000 genomes]
rs11882464	1.00[ASN][1000 genomes]
rs11882490	1.00[ASN][1000 genomes]
rs163212	1.00[ASN][1000 genomes]
rs16973959	1.00[CHB][hapmap]
rs17756648	0.83[ASN][1000 genomes]
rs234329	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs234338	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs234347	1.00[CHB][hapmap]
rs234348	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs234362	1.00[CHB][hapmap]
rs234363	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs234367	1.00[CHB][hapmap]
rs234369	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2531363	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs28669038	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs337796	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs383975	1.00[ASN][1000 genomes]
rs399405	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs420413	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs445379	1.00[ASN][1000 genomes]
rs517342	1.00[ASN][1000 genomes]
rs520877	1.00[ASN][1000 genomes]
rs526467	1.00[ASN][1000 genomes]
rs532235	1.00[ASN][1000 genomes]
rs563703	1.00[ASN][1000 genomes]
rs589279	1.00[ASN][1000 genomes]
rs589404	1.00[ASN][1000 genomes]
rs62106576	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62106577	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62106578	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62106580	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62106581	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62106584	1.00[ASN][1000 genomes]
rs62106585	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62106586	1.00[ASN][1000 genomes]
rs62106587	1.00[ASN][1000 genomes]
rs62106588	1.00[ASN][1000 genomes]
rs62106589	1.00[ASN][1000 genomes]
rs62106590	1.00[ASN][1000 genomes]
rs62106591	1.00[ASN][1000 genomes]
rs62106625	1.00[ASN][1000 genomes]
rs62106626	1.00[ASN][1000 genomes]
rs62108934	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62110063	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs623196	1.00[ASN][1000 genomes]
rs636313	1.00[ASN][1000 genomes]
rs649239	1.00[ASN][1000 genomes]
rs6508931	1.00[ASN][1000 genomes]
rs6508932	1.00[ASN][1000 genomes]
rs667850	1.00[ASN][1000 genomes]
rs7250244	1.00[ASN][1000 genomes]
rs7250298	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7260610	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73551672	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73553618	1.00[ASN][1000 genomes]
rs8103746	1.00[ASN][1000 genomes]
rs8103807	1.00[ASN][1000 genomes]
rs8105260	1.00[ASN][1000 genomes]
rs8108062	1.00[ASN][1000 genomes]
rs8108857	1.00[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	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers 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	43 gene(s)	inside rSNPs	diseases
2	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv2488	chr19:40593818-40631406	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv911697	chr19:40599603-40711333	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40600600-40601000	Enhancers	GM12878-XiMat	blood

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