Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:79979786..79981696-chr13:80018288..80020196,2	K562	blood:

Variant related genes	Relation type
ENSG00000227354	Chromatin interaction
ENSG00000139746	Chromatin interaction

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

rs_ID	r²[population]
rs11549502	0.91[CEU][hapmap]
rs11619563	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11838769	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs11842488	0.89[YRI][hapmap]
rs12146935	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17071513	0.89[YRI][hapmap]
rs17071551	0.89[YRI][hapmap]
rs4884132	0.87[AMR][1000 genomes]
rs4885635	0.89[AMR][1000 genomes]
rs4885639	0.89[AMR][1000 genomes]
rs67435118	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7321672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73234683	0.89[AMR][1000 genomes]
rs73235960	0.89[AMR][1000 genomes]
rs7983288	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7991663	0.89[AMR][1000 genomes]
rs7992646	0.83[AMR][1000 genomes]
rs8000301	0.87[AMR][1000 genomes]
rs9530926	0.87[AMR][1000 genomes]
rs9530927	0.89[AMR][1000 genomes]
rs9530933	0.92[CEU][hapmap]
rs9545115	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9545126	0.89[AMR][1000 genomes]
rs9545127	0.91[CEU][hapmap]
rs9545129	0.89[AMR][1000 genomes]
rs9545130	0.91[CEU][hapmap]
rs9545132	0.89[AMR][1000 genomes]
rs958316	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs983927	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv523979	chr13:79979679-80120263	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80010200-80025600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:80015400-80020200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:80016200-80025800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr13:80019600-80021000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr13:80019800-80020200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:80019800-80020200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:80019800-80020800	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr13:80019800-80021000	Enhancers	Dnd41	blood
9	chr13:80019800-80021200	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr13:80020000-80020600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr13:80020000-80020800	Enhancers	Fetal Thymus	thymus

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