Variant report

Variant	rs622072
Chromosome Location	chr8:103944191-103944192
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:103943825-103944199	GM12891	blood:	n/a	n/a
2	POLR2A	chr8:103943641-103944245	GM12891	blood:	n/a	n/a
3	POU2F2	chr8:103943849-103944268	GM12878	blood:	n/a	chr8:103944050-103944059 chr8:103944044-103944057 chr8:103944050-103944060 chr8:103944047-103944062 chr8:103944044-103944057 chr8:103944049-103944061 chr8:103944050-103944058 chr8:103944044-103944057 chr8:103944047-103944061 chr8:103944049-103944059 chr8:103944045-103944063 chr8:103944050-103944060 chr8:103944048-103944059 chr8:103944043-103944065 chr8:103944043-103944064 chr8:103944051-103944058
4	POU2F2	chr8:103943763-103944308	GM12878	blood:	n/a	chr8:103944050-103944059 chr8:103944044-103944057 chr8:103944050-103944060 chr8:103944047-103944062 chr8:103944044-103944057 chr8:103944049-103944061 chr8:103944050-103944058 chr8:103944044-103944057 chr8:103944047-103944061 chr8:103944049-103944059 chr8:103944045-103944063 chr8:103944050-103944060 chr8:103944048-103944059 chr8:103944043-103944065 chr8:103944043-103944064 chr8:103944051-103944058
5	POU2F2	chr8:103943817-103944318	GM12891	blood:	n/a	chr8:103944050-103944059 chr8:103944044-103944057 chr8:103944050-103944060 chr8:103944047-103944062 chr8:103944044-103944057 chr8:103944049-103944061 chr8:103944050-103944058 chr8:103944044-103944057 chr8:103944047-103944061 chr8:103944049-103944059 chr8:103944045-103944063 chr8:103944050-103944060 chr8:103944048-103944059 chr8:103944043-103944065 chr8:103944043-103944064 chr8:103944051-103944058
6	EBF1	chr8:103943877-103944207	GM12878	blood:	n/a	n/a
7	RUNX3	chr8:103943467-103944311	GM12878	blood:	n/a	n/a
8	POLR2A	chr8:103943651-103944299	GM12891	blood:	n/a	n/a
9	POLR2A	chr8:103943976-103944646	K562	blood:	n/a	n/a
10	POU2F2	chr8:103943765-103944238	GM12891	blood:	n/a	chr8:103944050-103944059 chr8:103944044-103944057 chr8:103944050-103944060 chr8:103944047-103944062 chr8:103944044-103944057 chr8:103944049-103944061 chr8:103944050-103944058 chr8:103944044-103944057 chr8:103944047-103944061 chr8:103944049-103944059 chr8:103944045-103944063 chr8:103944050-103944060 chr8:103944048-103944059 chr8:103944043-103944065 chr8:103944043-103944064 chr8:103944051-103944058

No.	Distal block	Cell Line	Cell type
1	chr8:103943378..103945919-chr8:103945978..103949181,3	MCF-7	breast:
2	chr8:103875189..103877224-chr8:103941864..103944592,2	K562	blood:
3	chr8:103937650..103939410-chr8:103943379..103945768,2	MCF-7	breast:
4	chr8:103939891..103942069-chr8:103943605..103945175,2	K562	blood:
5	chr8:103875189..103878093-chr8:103942369..103944654,3	K562	blood:

Variant related genes	Relation type
ENSG00000253320	TF binding region
ENSG00000155096	Chromatin interaction
ENSG00000253320	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11990382	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs529802	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs571241	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs581610	0.83[AMR][1000 genomes]
rs677406	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs682651	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs685459	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs688791	0.83[AMR][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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv891246	chr8:103928940-103967694	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs622072	AZIN1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103932200-103959400	Weak transcription	Fetal Brain Female	brain
2	chr8:103937800-103956000	Weak transcription	Brain Hippocampus Middle	brain
3	chr8:103938200-103947200	Weak transcription	Right Atrium	heart
4	chr8:103940200-103972600	Weak transcription	Ovary	ovary
5	chr8:103941800-103944400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr8:103942400-103948200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:103942400-103949200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:103943000-103948200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:103943000-103951800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:103943200-103944400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr8:103943400-103944200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr8:103943400-103944200	Weak transcription	Pancreas	Pancrea
13	chr8:103943600-103944200	Flanking Active TSS	GM12878-XiMat	blood
14	chr8:103943600-103945200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:103943600-103952000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:103943800-103947200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:103943800-103973600	Weak transcription	Fetal Kidney	kidney
18	chr8:103944000-103944200	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr8:103944000-103944200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:103944000-103944200	Enhancers	Primary B cells from peripheral blood	blood
21	chr8:103944000-103948000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:103944000-103948000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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