Variant report

Variant	rs11070218
Chromosome Location	chr15:39823058-39823059
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:39821827..39824067-chr15:39826356..39828412,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11070217	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11070219	0.91[EUR][1000 genomes]
rs11632080	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11855817	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2006671	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7166650	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][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	nsv1049682	chr15:39657279-40027403	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv542361	chr15:39657279-40027403	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv3373125	chr15:39691567-40061262	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv904094	chr15:39738006-39976057	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv832977	chr15:39817512-39981520	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11070218	BUB1B	cis	parietal	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39822200-39824400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr15:39822600-39823800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr15:39822600-39823800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr15:39822600-39823800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr15:39822600-39823800	Enhancers	Esophagus	oesophagus
6	chr15:39822800-39823400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr15:39822800-39823600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr15:39822800-39823600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:39822800-39823600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr15:39822800-39823600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr15:39822800-39823600	Enhancers	Colon Smooth Muscle	Colon
12	chr15:39822800-39823600	Bivalent Enhancer	NHDF-Ad	bronchial
13	chr15:39822800-39823600	Enhancers	NHEK	skin
14	chr15:39822800-39823800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr15:39822800-39823800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr15:39822800-39823800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr15:39822800-39823800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:39822800-39823800	Enhancers	Fetal Lung	lung
19	chr15:39822800-39823800	Enhancers	Fetal Muscle Leg	muscle
20	chr15:39822800-39823800	Enhancers	Hela-S3	cervix
21	chr15:39823000-39823200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr15:39823000-39823200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr15:39823000-39823400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:39823000-39823600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr15:39823000-39823600	Enhancers	H9 Cell Line	embryonic stem cell
26	chr15:39823000-39823600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr15:39823000-39823600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr15:39823000-39823600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr15:39823000-39823600	Enhancers	Adipose Nuclei	Adipose
30	chr15:39823000-39823600	Enhancers	Duodenum Mucosa	Duodenum
31	chr15:39823000-39824000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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