Variant report

Variant	rs1805802
Chromosome Location	chr8:91002909-91002910
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90917254..90919157-chr8:91001242..91003446,2	K562	blood:
2	chr8:91001841..91004677-chr8:91011322..91014082,3	MCF-7	breast:
3	chr8:90999290..91002068-chr8:91002362..91003933,2	MCF-7	breast:
4	chr8:90985980..90988201-chr8:91001629..91004012,2	MCF-7	breast:
5	chr8:91001359..91005873-chr8:91011034..91014755,7	MCF-7	breast:
6	chr8:90891348..90893141-chr8:91002737..91005355,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104325	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10109454	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1061302	0.81[EUR][1000 genomes]
rs1063045	0.81[EUR][1000 genomes]
rs10956375	0.81[EUR][1000 genomes]
rs10956427	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12550313	0.81[EUR][1000 genomes]
rs12677527	0.82[EUR][1000 genomes]
rs12680903	0.80[EUR][1000 genomes]
rs13275276	0.81[EUR][1000 genomes]
rs13278453	0.81[EUR][1000 genomes]
rs13312842	0.83[EUR][1000 genomes]
rs13312935	0.81[EUR][1000 genomes]
rs1476590	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16786	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1805786	0.81[EUR][1000 genomes]
rs1805788	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1805789	0.81[ASN][1000 genomes]
rs1805790	0.81[EUR][1000 genomes]
rs1805791	0.80[EUR][1000 genomes]
rs1805793	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1805796	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1805797	0.81[EUR][1000 genomes]
rs1805799	0.82[EUR][1000 genomes]
rs1805800	0.82[EUR][1000 genomes]
rs1805801	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1805803	0.85[EUR][1000 genomes]
rs1805804	0.84[EUR][1000 genomes]
rs1805806	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1805807	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1805809	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1805817	0.81[EUR][1000 genomes]
rs1805818	0.81[EUR][1000 genomes]
rs1805833	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1805841	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1805844	0.81[EUR][1000 genomes]
rs1805864	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1805868	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1805869	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1805889	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2073635	0.82[EUR][1000 genomes]
rs2107466	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2189618	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2189619	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2234744	0.81[EUR][1000 genomes]
rs2280780	0.81[EUR][1000 genomes]
rs2293774	0.81[EUR][1000 genomes]
rs2293775	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2308962	0.81[EUR][1000 genomes]
rs3026265	0.81[EUR][1000 genomes]
rs3026276	0.84[EUR][1000 genomes]
rs3736639	0.81[EUR][1000 genomes]
rs4961165	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4961169	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58579435	0.81[EUR][1000 genomes]
rs61427172	0.84[EUR][1000 genomes]
rs6470522	0.84[ASN][1000 genomes]
rs6470523	0.81[EUR][1000 genomes]
rs6987873	0.81[EUR][1000 genomes]
rs6990969	0.81[EUR][1000 genomes]
rs6991811	0.82[EUR][1000 genomes]
rs7006322	0.81[EUR][1000 genomes]
rs7010210	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7018118	0.83[EUR][1000 genomes]
rs709816	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71528733	0.84[EUR][1000 genomes]
rs741777	0.81[EUR][1000 genomes]
rs7829246	0.81[EUR][1000 genomes]
rs867185	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9650098	0.81[EUR][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	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv971247	chr8:91001504-91007330	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1805802	NBN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90997000-91004600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:90997200-91005600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr8:90997600-91005200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:90999600-91004600	Weak transcription	NHEK	skin
5	chr8:90999800-91004800	Weak transcription	HMEC	breast
6	chr8:90999800-91005000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:91000000-91012400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:91002400-91005000	Weak transcription	K562	blood

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