Variant report

Variant	rs58972341
Chromosome Location	chr5:100141829-100141830
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	chr5:100140257..100142972-chr5:100150394..100152547,2	K562	blood:

Variant related genes	Relation type
ENSG00000221263	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs11958370	1.00[EUR][1000 genomes]
rs17161227	1.00[EUR][1000 genomes]
rs17161238	1.00[EUR][1000 genomes]
rs2548271	1.00[EUR][1000 genomes]
rs28704689	1.00[EUR][1000 genomes]
rs56789558	1.00[EUR][1000 genomes]
rs57030195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57051501	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57093790	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57165646	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57408442	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58460894	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58571109	1.00[EUR][1000 genomes]
rs59107693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59522996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61509083	1.00[EUR][1000 genomes]
rs61550483	1.00[EUR][1000 genomes]
rs6878351	1.00[EUR][1000 genomes]
rs6878887	1.00[EUR][1000 genomes]
rs6879241	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73155148	1.00[EUR][1000 genomes]
rs73155161	1.00[EUR][1000 genomes]
rs73155163	1.00[EUR][1000 genomes]
rs73155169	1.00[EUR][1000 genomes]
rs73155170	1.00[EUR][1000 genomes]
rs73157721	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73157724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73157726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73157755	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73157793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73159945	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73159969	1.00[EUR][1000 genomes]
rs73159973	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73159981	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73159982	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73159986	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73159988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73159991	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73160414	1.00[EUR][1000 genomes]
rs73160421	1.00[EUR][1000 genomes]
rs73160425	1.00[EUR][1000 genomes]
rs73160500	1.00[EUR][1000 genomes]
rs73160501	1.00[EUR][1000 genomes]
rs73162260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162268	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162273	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162274	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162277	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162285	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162291	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162294	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162302	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162409	1.00[EUR][1000 genomes]
rs73162427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162447	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73163618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73163629	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73163634	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73163646	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73163652	0.89[AFR][1000 genomes];1.00[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	nsv1021183	chr5:99625857-100221426	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1023765	chr5:99915011-100733755	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100138400-100142400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:100138400-100142600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr5:100138800-100143800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr5:100139000-100146400	Weak transcription	Primary B cells from cord blood	blood
5	chr5:100139400-100154400	Weak transcription	Fetal Lung	lung
6	chr5:100139400-100155400	Weak transcription	Placenta	Placenta
7	chr5:100139600-100142400	Weak transcription	Dnd41	blood
8	chr5:100139600-100143400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr5:100139600-100144400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr5:100139600-100149200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:100140200-100147000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:100140800-100147200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr5:100141800-100147000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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