Variant report

Variant	rs28380191
Chromosome Location	chr8:91122146-91122147
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:91121306..91123004-chr8:91234013..91235686,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10092098	0.81[EUR][1000 genomes]
rs10095826	0.80[EUR][1000 genomes]
rs10100369	0.85[EUR][1000 genomes]
rs10104321	0.81[EUR][1000 genomes]
rs10109405	0.82[EUR][1000 genomes]
rs10113507	0.82[EUR][1000 genomes]
rs10755930	0.81[EUR][1000 genomes]
rs12171665	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12547667	0.81[EUR][1000 genomes]
rs12549107	0.81[EUR][1000 genomes]
rs13277204	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1554927	0.85[EUR][1000 genomes]
rs1800645	0.81[EUR][1000 genomes]
rs1805876	0.81[EUR][1000 genomes]
rs1805877	0.81[EUR][1000 genomes]
rs2091888	0.83[EUR][1000 genomes]
rs2091900	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2103432	0.82[EUR][1000 genomes]
rs2142093	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2142094	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2205108	0.85[EUR][1000 genomes]
rs6470668	0.81[EUR][1000 genomes]
rs6470671	0.81[EUR][1000 genomes]
rs6470708	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6470709	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6470713	0.88[EUR][1000 genomes]
rs6988013	0.84[EUR][1000 genomes]
rs6994202	0.81[EUR][1000 genomes]
rs6994668	0.84[EUR][1000 genomes]
rs7459441	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7459577	0.81[EUR][1000 genomes]
rs7459845	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7459846	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7460025	0.81[EUR][1000 genomes]
rs7461859	0.81[EUR][1000 genomes]
rs7463278	0.85[EUR][1000 genomes]
rs7463923	0.85[EUR][1000 genomes]
rs7465539	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7815279	0.83[EUR][1000 genomes]
rs7821408	0.81[EUR][1000 genomes]
rs7831184	0.85[EUR][1000 genomes]
rs9297784	0.88[EUR][1000 genomes]
rs9774207	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs988934	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv2757281	chr8:91090821-91235335	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv34347	chr8:91101339-91179126	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	nsv470225	chr8:91113616-91229254	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv891184	chr8:91114698-91222654	Active TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28380191	NBN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91121800-91122200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr8:91121800-91122600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr8:91122000-91122400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr8:91122000-91122400	Enhancers	HUES6 Cell Line	embryonic stem cell

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